tooluniverse 1.0.6__py3-none-any.whl → 1.0.7__py3-none-any.whl
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- tooluniverse/__init__.py +31 -0
- tooluniverse/agentic_tool.py +40 -4
- tooluniverse/arxiv_tool.py +2 -6
- tooluniverse/base_tool.py +174 -25
- tooluniverse/biorxiv_tool.py +35 -16
- tooluniverse/cellosaurus_tool.py +1332 -0
- tooluniverse/compose_scripts/enhanced_multi_agent_literature_search.py +310 -0
- tooluniverse/compose_scripts/multi_agent_literature_search.py +794 -0
- tooluniverse/compose_scripts/tool_graph_generation.py +68 -35
- tooluniverse/compose_scripts/tool_metadata_generator.py +205 -105
- tooluniverse/compose_tool.py +93 -8
- tooluniverse/core_tool.py +46 -44
- tooluniverse/crossref_tool.py +89 -4
- tooluniverse/data/agentic_tools.json +1271 -1179
- tooluniverse/data/alphafold_tools.json +356 -105
- tooluniverse/data/arxiv_tools.json +88 -81
- tooluniverse/data/biorxiv_tools.json +69 -64
- tooluniverse/data/cellosaurus_tools.json +260 -0
- tooluniverse/data/chembl_tools.json +27 -12
- tooluniverse/data/clinicaltrials_gov_tools.json +377 -302
- tooluniverse/data/compose_tools.json +123 -16
- tooluniverse/data/core_tools.json +107 -99
- tooluniverse/data/crossref_tools.json +131 -63
- tooluniverse/data/dailymed_tools.json +17 -3
- tooluniverse/data/dataset_tools.json +1031 -588
- tooluniverse/data/dblp_tools.json +135 -64
- tooluniverse/data/disease_target_score_tools.json +20 -10
- tooluniverse/data/doaj_tools.json +133 -87
- tooluniverse/data/embedding_tools.json +362 -299
- tooluniverse/data/enrichr_tools.json +34 -27
- tooluniverse/data/europe_pmc_tools.json +108 -16
- tooluniverse/data/fatcat_tools.json +71 -66
- tooluniverse/data/fda_drug_adverse_event_tools.json +1061 -445
- tooluniverse/data/fda_drug_labeling_tools.json +6858 -6901
- tooluniverse/data/finder_tools.json +32 -37
- tooluniverse/data/gene_ontology_tools.json +19 -7
- tooluniverse/data/gwas_tools.json +1720 -959
- tooluniverse/data/hal_tools.json +69 -64
- tooluniverse/data/hpa_tools.json +53 -14
- tooluniverse/data/humanbase_tools.json +51 -43
- tooluniverse/data/idmap_tools.json +76 -70
- tooluniverse/data/literature_search_tools.json +306 -0
- tooluniverse/data/mcp_client_tools_example.json +122 -107
- tooluniverse/data/medlineplus_tools.json +50 -10
- tooluniverse/data/medrxiv_tools.json +69 -64
- tooluniverse/data/molecule_2d_tools.json +134 -0
- tooluniverse/data/molecule_3d_tools.json +164 -0
- tooluniverse/data/monarch_tools.json +112 -110
- tooluniverse/data/odphp_tools.json +389 -119
- tooluniverse/data/openaire_tools.json +89 -79
- tooluniverse/data/openalex_tools.json +100 -31
- tooluniverse/data/opentarget_tools.json +1457 -1372
- tooluniverse/data/osf_preprints_tools.json +77 -73
- tooluniverse/data/packages/bioinformatics_core_tools.json +40 -10
- tooluniverse/data/packages/cheminformatics_tools.json +20 -5
- tooluniverse/data/packages/genomics_tools.json +36 -9
- tooluniverse/data/packages/machine_learning_tools.json +36 -9
- tooluniverse/data/packages/scientific_computing_tools.json +20 -5
- tooluniverse/data/packages/single_cell_tools.json +20 -5
- tooluniverse/data/packages/structural_biology_tools.json +16 -4
- tooluniverse/data/packages/visualization_tools.json +20 -5
- tooluniverse/data/pmc_tools.json +111 -103
- tooluniverse/data/protein_structure_3d_tools.json +138 -0
- tooluniverse/data/pubchem_tools.json +37 -12
- tooluniverse/data/pubmed_tools.json +126 -58
- tooluniverse/data/pubtator_tools.json +68 -60
- tooluniverse/data/rcsb_pdb_tools.json +1532 -1221
- tooluniverse/data/semantic_scholar_tools.json +55 -22
- tooluniverse/data/special_tools.json +8 -6
- tooluniverse/data/tool_composition_tools.json +112 -82
- tooluniverse/data/unified_guideline_tools.json +707 -0
- tooluniverse/data/url_fetch_tools.json +102 -82
- tooluniverse/data/uspto_tools.json +49 -30
- tooluniverse/data/wikidata_sparql_tools.json +42 -39
- tooluniverse/data/xml_tools.json +3274 -3113
- tooluniverse/data/zenodo_tools.json +84 -76
- tooluniverse/dblp_tool.py +76 -6
- tooluniverse/default_config.py +13 -0
- tooluniverse/doaj_tool.py +76 -17
- tooluniverse/doctor.py +48 -0
- tooluniverse/europe_pmc_tool.py +132 -17
- tooluniverse/exceptions.py +170 -0
- tooluniverse/execute_function.py +784 -362
- tooluniverse/fatcat_tool.py +0 -1
- tooluniverse/generate_tools.py +198 -0
- tooluniverse/hal_tool.py +1 -1
- tooluniverse/llm_clients.py +101 -124
- tooluniverse/mcp_tool_registry.py +4 -1
- tooluniverse/medrxiv_tool.py +32 -13
- tooluniverse/memory_manager.py +166 -0
- tooluniverse/molecule_2d_tool.py +274 -0
- tooluniverse/molecule_3d_tool.py +441 -0
- tooluniverse/odphp_tool.py +49 -14
- tooluniverse/openaire_tool.py +5 -20
- tooluniverse/openalex_tool.py +34 -0
- tooluniverse/osf_preprints_tool.py +1 -1
- tooluniverse/pmc_tool.py +54 -56
- tooluniverse/protein_structure_3d_tool.py +295 -0
- tooluniverse/pubmed_tool.py +69 -6
- tooluniverse/remote/boltz/boltz_mcp_server.py +3 -1
- tooluniverse/remote/uspto_downloader/uspto_downloader_mcp_server.py +3 -1
- tooluniverse/semantic_scholar_tool.py +40 -10
- tooluniverse/smcp.py +140 -205
- tooluniverse/smcp_server.py +97 -55
- tooluniverse/tool_registry.py +35 -3
- tooluniverse/tools/ADMETAI_predict_BBB_penetrance.py +46 -0
- tooluniverse/tools/ADMETAI_predict_CYP_interactions.py +46 -0
- tooluniverse/tools/ADMETAI_predict_bioavailability.py +46 -0
- tooluniverse/tools/ADMETAI_predict_clearance_distribution.py +49 -0
- tooluniverse/tools/ADMETAI_predict_nuclear_receptor_activity.py +49 -0
- tooluniverse/tools/ADMETAI_predict_physicochemical_properties.py +49 -0
- tooluniverse/tools/ADMETAI_predict_solubility_lipophilicity_hydration.py +49 -0
- tooluniverse/tools/ADMETAI_predict_stress_response.py +46 -0
- tooluniverse/tools/ADMETAI_predict_toxicity.py +46 -0
- tooluniverse/tools/AdvancedCodeQualityAnalyzer.py +63 -0
- tooluniverse/tools/AdverseEventICDMapper.py +46 -0
- tooluniverse/tools/AdverseEventPredictionQuestionGenerator.py +52 -0
- tooluniverse/tools/AdverseEventPredictionQuestionGeneratorWithContext.py +59 -0
- tooluniverse/tools/ArXiv_search_papers.py +63 -0
- tooluniverse/tools/ArgumentDescriptionOptimizer.py +55 -0
- tooluniverse/tools/BioRxiv_search_preprints.py +52 -0
- tooluniverse/tools/BiomarkerDiscoveryWorkflow.py +55 -0
- tooluniverse/tools/CORE_search_papers.py +67 -0
- tooluniverse/tools/CallAgent.py +46 -0
- tooluniverse/tools/ChEMBL_search_similar_molecules.py +59 -0
- tooluniverse/tools/CodeOptimizer.py +55 -0
- tooluniverse/tools/CodeQualityAnalyzer.py +71 -0
- tooluniverse/tools/ComprehensiveDrugDiscoveryPipeline.py +49 -0
- tooluniverse/tools/Crossref_search_works.py +55 -0
- tooluniverse/tools/DBLP_search_publications.py +52 -0
- tooluniverse/tools/DOAJ_search_articles.py +55 -0
- tooluniverse/tools/DailyMed_get_spl_by_setid.py +52 -0
- tooluniverse/tools/DailyMed_search_spls.py +79 -0
- tooluniverse/tools/DataAnalysisValidityReviewer.py +49 -0
- tooluniverse/tools/DescriptionAnalyzer.py +55 -0
- tooluniverse/tools/DescriptionQualityEvaluator.py +59 -0
- tooluniverse/tools/DomainExpertValidator.py +63 -0
- tooluniverse/tools/DrugSafetyAnalyzer.py +59 -0
- tooluniverse/tools/EthicalComplianceReviewer.py +49 -0
- tooluniverse/tools/EuropePMC_Guidelines_Search.py +52 -0
- tooluniverse/tools/EuropePMC_search_articles.py +52 -0
- tooluniverse/tools/ExperimentalDesignScorer.py +55 -0
- tooluniverse/tools/FAERS_count_additive_administration_routes.py +52 -0
- tooluniverse/tools/FAERS_count_additive_adverse_reactions.py +71 -0
- tooluniverse/tools/FAERS_count_additive_event_reports_by_country.py +63 -0
- tooluniverse/tools/FAERS_count_additive_reaction_outcomes.py +63 -0
- tooluniverse/tools/FAERS_count_additive_reports_by_reporter_country.py +63 -0
- tooluniverse/tools/FAERS_count_additive_seriousness_classification.py +63 -0
- tooluniverse/tools/FAERS_count_country_by_drug_event.py +63 -0
- tooluniverse/tools/FAERS_count_death_related_by_drug.py +49 -0
- tooluniverse/tools/FAERS_count_drug_routes_by_event.py +52 -0
- tooluniverse/tools/FAERS_count_drugs_by_drug_event.py +63 -0
- tooluniverse/tools/FAERS_count_outcomes_by_drug_event.py +63 -0
- tooluniverse/tools/FAERS_count_patient_age_distribution.py +49 -0
- tooluniverse/tools/FAERS_count_reactions_by_drug_event.py +71 -0
- tooluniverse/tools/FAERS_count_reportercountry_by_drug_event.py +63 -0
- tooluniverse/tools/FAERS_count_seriousness_by_drug_event.py +63 -0
- tooluniverse/tools/FDA_get_abuse_dependence_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_abuse_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_accessories_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_active_ingredient_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_adverse_reactions_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_alarms_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_animal_pharmacology_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_assembly_installation_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_boxed_warning_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_brand_name_generic_name.py +52 -0
- tooluniverse/tools/FDA_get_calibration_instructions_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_carcinogenic_mutagenic_fertility_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_child_safety_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_clinical_pharmacology_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_clinical_studies_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_contact_for_questions_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_contraindications_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_controlled_substance_DEA_schedule_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_dear_health_care_provider_letter_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_dependence_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_disposal_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_do_not_use_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_document_id_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_dosage_and_storage_information_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_dosage_forms_and_strengths_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_drug_generic_name.py +46 -0
- tooluniverse/tools/FDA_get_drug_interactions_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_SPL_ID.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_adverse_reaction.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_calibration_instructions.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_dependence_info.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_document_id.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_dosage_info.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_environmental_warning.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_inactive_ingredient.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_info_on_conditions_for_doctor_consultation.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_labor_and_delivery_info.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_microbiology.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_other_safety_info.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_pharmacodynamics.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_pharmacogenomics.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_precautions.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_pregnancy_or_breastfeeding_info.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_principal_display_panel.py +59 -0
- tooluniverse/tools/FDA_get_drug_name_by_reference.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_set_id.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_stop_use_info.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_storage_and_handling_info.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_by_warnings.py +55 -0
- tooluniverse/tools/FDA_get_drug_name_from_patient_package_insert.py +59 -0
- tooluniverse/tools/FDA_get_drug_names_by_abuse_dependence_info.py +55 -0
- tooluniverse/tools/FDA_get_drug_names_by_abuse_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_accessories.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_active_ingredient.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_alarm.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_animal_pharmacology_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_application_number_NDC_number.py +59 -0
- tooluniverse/tools/FDA_get_drug_names_by_assembly_installation_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_boxed_warning.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_child_safety_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_clinical_pharmacology.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_clinical_studies.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_consulting_doctor_pharmacist_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_contraindications.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_controlled_substance_DEA_schedule.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_dear_health_care_provider_letter_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_disposal_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_dosage_forms_and_strengths_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_drug_interactions.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_effective_time.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_food_safety_warnings.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_general_precautions.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_geriatric_use.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_health_claim.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_indication.py +55 -0
- tooluniverse/tools/FDA_get_drug_names_by_info_for_nursing_mothers.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_information_for_owners_or_caregivers.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_ingredient.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_instructions_for_use.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_lab_test_interference.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_lab_tests.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_mechanism_of_action.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_medication_guide.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_nonclinical_toxicology_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_nonteratogenic_effects.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_overdosage_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_pediatric_use.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_pharmacokinetics.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_population_use.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_pregnancy_effects_info.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_residue_warning.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_risk.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_route.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_safe_handling_warning.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_safety_summary.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_spl_indexing_data_elements.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_teratogenic_effects.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_user_safety_warning.py +63 -0
- tooluniverse/tools/FDA_get_drug_names_by_warnings_and_cautions.py +63 -0
- tooluniverse/tools/FDA_get_drugs_by_carcinogenic_mutagenic_fertility.py +63 -0
- tooluniverse/tools/FDA_get_effective_time_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_environmental_warning_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_general_precautions_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_geriatric_use_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_health_claims_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_inactive_ingredient_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_indications_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_info_for_nursing_mothers_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_info_for_patients_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_info_on_conditions_for_doctor_consultation_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_info_on_consulting_doctor_pharmacist_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_information_for_owners_or_caregivers_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_ingredients_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_instructions_for_use_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_lab_test_interference_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_lab_tests_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_labor_and_delivery_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_manufacturer_name_NDC_number_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_mechanism_of_action_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_medication_guide_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_microbiology_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_nonclinical_toxicology_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_nonteratogenic_effects_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_other_safety_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_overdosage_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_patient_package_insert_from_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_pediatric_use_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_pharmacodynamics_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_pharmacogenomics_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_pharmacokinetics_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_population_use_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_precautions_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_pregnancy_effects_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_pregnancy_or_breastfeeding_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_principal_display_panel_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_purpose_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_recent_changes_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_reference_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_residue_warning_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_risk_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_route_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_safe_handling_warnings_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_safety_summary_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_spl_indexing_data_elements_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_spl_unclassified_section_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_stop_use_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_storage_and_handling_info_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_teratogenic_effects_by_drug_name.py +55 -0
- tooluniverse/tools/FDA_get_user_safety_warning_by_drug_names.py +55 -0
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"name": "gwas_search_associations",
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"properties": {
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"efo_id": {
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"type": "string"
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},
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"efo_trait": {
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"type": "string"
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}
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}
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}
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},
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"reported_trait": {
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"type": "array",
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"items": {
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"type": "string"
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}
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},
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"accession_id": {
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"type": "string",
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"description": "Study accession ID"
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},
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"pubmed_id": {
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"type": "string",
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"description": "PubMed reference"
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},
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"first_author": {
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"type": "string",
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"description": "First author name"
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},
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"snp_effect_allele": {
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"type": "array",
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"items": {
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"type": "string"
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}
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},
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"snp_allele": {
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"type": "array",
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"items": {
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"type": "object",
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"properties": {
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"rs_id": {
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"type": "string"
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},
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"effect_allele": {
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"type": "string"
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}
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}
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},
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"locations": {
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"type": "array",
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"items": {
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"type": "string"
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}
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},
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"mapped_genes": {
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"type": "array",
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"items": {
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"type": "string"
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}
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},
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"ci_lower": {
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"type": "number",
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"description": "Lower confidence interval"
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},
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"ci_upper": {
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"type": "number",
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"description": "Upper confidence interval"
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},
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"risk_frequency": {
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"type": "string",
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"description": "Risk allele frequency"
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},
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"range": {
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"type": "string",
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"description": "Effect size range"
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},
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"_links": {
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"type": "object",
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"description": "API links"
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}
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}
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-
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"
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"description": "EFO trait identifier or name",
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"required": false
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},
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"disease_trait": {
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"type": "string",
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"description": "Disease trait name",
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"required": false
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},
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"cohort": {
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"type": "string",
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"description": "Cohort name (e.g., 'UKB' for UK Biobank)",
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|
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"required": false
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}
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},
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"metadata": {
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"type": "object",
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"description": "Pagination and navigation metadata",
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"properties": {
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"pagination": {
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"type": "object",
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"properties": {
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"size": {
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"type": "integer"
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|
},
|
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|
-
"
|
|
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|
-
|
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|
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"description": "Filter for Gene-by-Environment interaction studies",
|
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|
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"required": false
|
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|
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"totalElements": {
|
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|
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"type": "integer"
|
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|
},
|
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|
-
"
|
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|
-
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|
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"description": "Filter for studies with full summary statistics",
|
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|
-
"required": false
|
|
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|
+
"totalPages": {
|
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|
+
"type": "integer"
|
|
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|
},
|
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|
-
"
|
|
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|
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|
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"description": "Number of results to return",
|
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|
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"required": false
|
|
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|
-
},
|
|
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|
-
"page": {
|
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|
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"type": "integer",
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|
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"description": "Page number for pagination",
|
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|
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"required": false
|
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|
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"number": {
|
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"type": "integer"
|
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}
|
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|
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}
|
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|
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},
|
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|
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"links": {
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"type": "object",
|
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|
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"description": "Navigation links"
|
|
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|
}
|
|
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|
+
}
|
|
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|
+
}
|
|
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|
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}
|
|
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|
+
}
|
|
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|
+
},
|
|
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|
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{
|
|
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|
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"type": "GWASStudySearch",
|
|
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|
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"name": "gwas_search_studies",
|
|
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|
+
"description": "Search for GWAS studies by various criteria including EFO trait, disease trait, cohort, GxE interactions, and summary statistics availability.",
|
|
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|
+
"parameter": {
|
|
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|
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"type": "object",
|
|
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|
+
"properties": {
|
|
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|
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"efo_trait": {
|
|
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|
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"type": "string",
|
|
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|
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"description": "EFO trait identifier or name"
|
|
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|
+
},
|
|
196
|
+
"disease_trait": {
|
|
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|
+
"type": "string",
|
|
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|
+
"description": "Disease trait name"
|
|
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|
+
},
|
|
200
|
+
"cohort": {
|
|
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|
+
"type": "string",
|
|
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|
+
"description": "Cohort name (e.g., 'UKB' for UK Biobank)"
|
|
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203
|
},
|
|
163
|
-
"
|
|
164
|
-
|
|
165
|
-
|
|
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|
-
|
|
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|
-
|
|
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|
-
|
|
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|
-
|
|
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|
+
"gxe": {
|
|
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|
+
"type": "boolean",
|
|
206
|
+
"description": "Filter for Gene-by-Environment interaction studies"
|
|
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|
+
},
|
|
208
|
+
"full_pvalue_set": {
|
|
209
|
+
"type": "boolean",
|
|
210
|
+
"description": "Filter for studies with full summary statistics"
|
|
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|
+
},
|
|
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|
+
"size": {
|
|
213
|
+
"type": "integer",
|
|
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|
+
"description": "Number of results to return"
|
|
215
|
+
},
|
|
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|
+
"page": {
|
|
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|
+
"type": "integer",
|
|
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|
+
"description": "Page number for pagination"
|
|
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|
+
}
|
|
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|
+
},
|
|
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|
+
"required": []
|
|
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|
+
},
|
|
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|
+
"label": [
|
|
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|
+
"GWAS",
|
|
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|
+
"Study",
|
|
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|
+
"Research",
|
|
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|
+
"Search"
|
|
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|
+
],
|
|
229
|
+
"return_schema": {
|
|
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|
+
"type": "object",
|
|
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|
+
"description": "GWAS studies search results with pagination metadata",
|
|
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|
+
"properties": {
|
|
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|
+
"data": {
|
|
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|
+
"type": "array",
|
|
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|
+
"description": "Array of GWAS study objects",
|
|
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|
+
"items": {
|
|
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237
|
"type": "object",
|
|
171
|
-
"description": "GWAS studies search results with pagination metadata",
|
|
172
238
|
"properties": {
|
|
173
|
-
|
|
174
|
-
|
|
175
|
-
|
|
176
|
-
|
|
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|
-
|
|
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|
-
|
|
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|
-
|
|
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|
-
|
|
181
|
-
|
|
182
|
-
|
|
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|
-
|
|
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|
-
|
|
185
|
-
|
|
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|
-
|
|
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|
-
|
|
188
|
-
|
|
189
|
-
|
|
190
|
-
|
|
191
|
-
"initial_sample_size": {"type": "string", "description": "Initial sample size description"},
|
|
192
|
-
"replication_sample_size": {"type": "string", "description": "Replication sample size"},
|
|
193
|
-
"discovery_ancestry": {"type": "array", "items": {"type": "string"}},
|
|
194
|
-
"replication_ancestry": {"type": "array", "items": {"type": "string"}},
|
|
195
|
-
"cohort": {"type": "array", "items": {"type": "string"}},
|
|
196
|
-
"genotyping_technologies": {"type": "array", "items": {"type": "string"}},
|
|
197
|
-
"platforms": {"type": "string", "description": "Genotyping platforms used"},
|
|
198
|
-
"snp_count": {"type": "integer", "description": "Number of SNPs analyzed"},
|
|
199
|
-
"imputed": {"type": "boolean", "description": "Whether data was imputed"},
|
|
200
|
-
"pooled": {"type": "boolean", "description": "Whether data was pooled"},
|
|
201
|
-
"gxe": {"type": "boolean", "description": "Gene-environment interaction study"},
|
|
202
|
-
"gxg": {"type": "boolean", "description": "Gene-gene interaction study"},
|
|
203
|
-
"full_summary_stats_available": {"type": "boolean", "description": "Full summary statistics available"},
|
|
204
|
-
"full_summary_stats": {"type": "string", "description": "URL to full summary statistics"},
|
|
205
|
-
"pubmed_id": {"type": "string", "description": "PubMed reference"},
|
|
206
|
-
"terms_of_license": {"type": "string", "description": "Data usage license"},
|
|
207
|
-
"array_manufacturer": {"type": "array", "items": {"type": "string"}},
|
|
208
|
-
"_links": {"type": "object", "description": "API links"}
|
|
209
|
-
}
|
|
210
|
-
}
|
|
211
|
-
},
|
|
212
|
-
"metadata": {
|
|
213
|
-
"type": "object",
|
|
214
|
-
"description": "Pagination and navigation metadata",
|
|
215
|
-
"properties": {
|
|
216
|
-
"pagination": {
|
|
217
|
-
"type": "object",
|
|
218
|
-
"properties": {
|
|
219
|
-
"size": {"type": "integer"},
|
|
220
|
-
"totalElements": {"type": "integer"},
|
|
221
|
-
"totalPages": {"type": "integer"},
|
|
222
|
-
"number": {"type": "integer"}
|
|
223
|
-
}
|
|
224
|
-
},
|
|
225
|
-
"links": {"type": "object", "description": "Navigation links"}
|
|
239
|
+
"accession_id": {
|
|
240
|
+
"type": "string",
|
|
241
|
+
"description": "Study accession identifier"
|
|
242
|
+
},
|
|
243
|
+
"disease_trait": {
|
|
244
|
+
"type": "string",
|
|
245
|
+
"description": "Disease or trait name"
|
|
246
|
+
},
|
|
247
|
+
"efo_traits": {
|
|
248
|
+
"type": "array",
|
|
249
|
+
"items": {
|
|
250
|
+
"type": "object",
|
|
251
|
+
"properties": {
|
|
252
|
+
"efo_id": {
|
|
253
|
+
"type": "string"
|
|
254
|
+
},
|
|
255
|
+
"efo_trait": {
|
|
256
|
+
"type": "string"
|
|
226
257
|
}
|
|
258
|
+
}
|
|
259
|
+
}
|
|
260
|
+
},
|
|
261
|
+
"initial_sample_size": {
|
|
262
|
+
"type": "string",
|
|
263
|
+
"description": "Initial sample size description"
|
|
264
|
+
},
|
|
265
|
+
"replication_sample_size": {
|
|
266
|
+
"type": "string",
|
|
267
|
+
"description": "Replication sample size"
|
|
268
|
+
},
|
|
269
|
+
"discovery_ancestry": {
|
|
270
|
+
"type": "array",
|
|
271
|
+
"items": {
|
|
272
|
+
"type": "string"
|
|
273
|
+
}
|
|
274
|
+
},
|
|
275
|
+
"replication_ancestry": {
|
|
276
|
+
"type": "array",
|
|
277
|
+
"items": {
|
|
278
|
+
"type": "string"
|
|
279
|
+
}
|
|
280
|
+
},
|
|
281
|
+
"cohort": {
|
|
282
|
+
"type": "array",
|
|
283
|
+
"items": {
|
|
284
|
+
"type": "string"
|
|
285
|
+
}
|
|
286
|
+
},
|
|
287
|
+
"genotyping_technologies": {
|
|
288
|
+
"type": "array",
|
|
289
|
+
"items": {
|
|
290
|
+
"type": "string"
|
|
227
291
|
}
|
|
292
|
+
},
|
|
293
|
+
"platforms": {
|
|
294
|
+
"type": "string",
|
|
295
|
+
"description": "Genotyping platforms used"
|
|
296
|
+
},
|
|
297
|
+
"snp_count": {
|
|
298
|
+
"type": "integer",
|
|
299
|
+
"description": "Number of SNPs analyzed"
|
|
300
|
+
},
|
|
301
|
+
"imputed": {
|
|
302
|
+
"type": "boolean",
|
|
303
|
+
"description": "Whether data was imputed"
|
|
304
|
+
},
|
|
305
|
+
"pooled": {
|
|
306
|
+
"type": "boolean",
|
|
307
|
+
"description": "Whether data was pooled"
|
|
308
|
+
},
|
|
309
|
+
"gxe": {
|
|
310
|
+
"type": "boolean",
|
|
311
|
+
"description": "Gene-environment interaction study"
|
|
312
|
+
},
|
|
313
|
+
"gxg": {
|
|
314
|
+
"type": "boolean",
|
|
315
|
+
"description": "Gene-gene interaction study"
|
|
316
|
+
},
|
|
317
|
+
"full_summary_stats_available": {
|
|
318
|
+
"type": "boolean",
|
|
319
|
+
"description": "Full summary statistics available"
|
|
320
|
+
},
|
|
321
|
+
"full_summary_stats": {
|
|
322
|
+
"type": "string",
|
|
323
|
+
"description": "URL to full summary statistics"
|
|
324
|
+
},
|
|
325
|
+
"pubmed_id": {
|
|
326
|
+
"type": "string",
|
|
327
|
+
"description": "PubMed reference"
|
|
328
|
+
},
|
|
329
|
+
"terms_of_license": {
|
|
330
|
+
"type": "string",
|
|
331
|
+
"description": "Data usage license"
|
|
332
|
+
},
|
|
333
|
+
"array_manufacturer": {
|
|
334
|
+
"type": "array",
|
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|
+
"items": {
|
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|
+
"type": "string"
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|
+
}
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+
},
|
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|
+
"_links": {
|
|
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|
+
"type": "object",
|
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341
|
+
"description": "API links"
|
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|
+
}
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|
}
|
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-
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"
|
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|
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-
"description": "dbSNP rs identifier",
|
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|
-
"required": false
|
|
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|
+
}
|
|
345
|
+
},
|
|
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|
+
"metadata": {
|
|
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|
+
"type": "object",
|
|
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|
+
"description": "Pagination and navigation metadata",
|
|
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|
+
"properties": {
|
|
350
|
+
"pagination": {
|
|
351
|
+
"type": "object",
|
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+
"properties": {
|
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+
"size": {
|
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+
"type": "integer"
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242
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|
},
|
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|
-
"
|
|
244
|
-
|
|
245
|
-
"description": "Gene name or symbol",
|
|
246
|
-
"required": false
|
|
356
|
+
"totalElements": {
|
|
357
|
+
"type": "integer"
|
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247
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|
},
|
|
248
|
-
"
|
|
249
|
-
|
|
250
|
-
"description": "Number of results to return",
|
|
251
|
-
"required": false
|
|
359
|
+
"totalPages": {
|
|
360
|
+
"type": "integer"
|
|
252
361
|
},
|
|
253
|
-
"
|
|
254
|
-
|
|
255
|
-
"description": "Page number for pagination",
|
|
256
|
-
"required": false
|
|
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|
+
"number": {
|
|
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|
+
"type": "integer"
|
|
257
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|
}
|
|
365
|
+
}
|
|
366
|
+
},
|
|
367
|
+
"links": {
|
|
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|
+
"type": "object",
|
|
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|
+
"description": "Navigation links"
|
|
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|
}
|
|
371
|
+
}
|
|
372
|
+
}
|
|
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|
+
}
|
|
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|
+
}
|
|
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|
+
},
|
|
376
|
+
{
|
|
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|
+
"type": "GWASSNPSearch",
|
|
378
|
+
"name": "gwas_search_snps",
|
|
379
|
+
"description": "Search for GWAS single nucleotide polymorphisms (SNPs) by rs ID or mapped gene.",
|
|
380
|
+
"parameter": {
|
|
381
|
+
"type": "object",
|
|
382
|
+
"properties": {
|
|
383
|
+
"rs_id": {
|
|
384
|
+
"type": "string",
|
|
385
|
+
"description": "dbSNP rs identifier"
|
|
386
|
+
},
|
|
387
|
+
"mapped_gene": {
|
|
388
|
+
"type": "string",
|
|
389
|
+
"description": "Gene name or symbol"
|
|
390
|
+
},
|
|
391
|
+
"size": {
|
|
392
|
+
"type": "integer",
|
|
393
|
+
"description": "Number of results to return"
|
|
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|
},
|
|
260
|
-
"
|
|
261
|
-
|
|
262
|
-
|
|
263
|
-
|
|
264
|
-
|
|
265
|
-
|
|
266
|
-
|
|
395
|
+
"page": {
|
|
396
|
+
"type": "integer",
|
|
397
|
+
"description": "Page number for pagination"
|
|
398
|
+
}
|
|
399
|
+
},
|
|
400
|
+
"required": []
|
|
401
|
+
},
|
|
402
|
+
"label": [
|
|
403
|
+
"GWAS",
|
|
404
|
+
"SNP",
|
|
405
|
+
"Variant",
|
|
406
|
+
"Search"
|
|
407
|
+
],
|
|
408
|
+
"return_schema": {
|
|
409
|
+
"type": "object",
|
|
410
|
+
"description": "GWAS SNPs search results with pagination metadata",
|
|
411
|
+
"properties": {
|
|
412
|
+
"data": {
|
|
413
|
+
"type": "array",
|
|
414
|
+
"description": "Array of SNP objects",
|
|
415
|
+
"items": {
|
|
267
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|
"type": "object",
|
|
268
|
-
"description": "GWAS SNPs search results with pagination metadata",
|
|
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|
"properties": {
|
|
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|
-
|
|
271
|
-
|
|
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|
-
|
|
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|
-
|
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|
-
|
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|
-
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|
-
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|
-
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|
-
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|
-
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|
-
|
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|
-
|
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|
-
|
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|
-
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|
-
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|
-
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|
-
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|
-
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|
-
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|
-
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|
-
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|
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|
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|
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|
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|
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|
-
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|
-
|
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|
-
|
|
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|
-
|
|
300
|
-
|
|
301
|
-
|
|
418
|
+
"rs_id": {
|
|
419
|
+
"type": "string",
|
|
420
|
+
"description": "dbSNP rs identifier"
|
|
421
|
+
},
|
|
422
|
+
"merged": {
|
|
423
|
+
"type": "integer",
|
|
424
|
+
"description": "Merged status"
|
|
425
|
+
},
|
|
426
|
+
"functional_class": {
|
|
427
|
+
"type": "string",
|
|
428
|
+
"description": "Functional classification"
|
|
429
|
+
},
|
|
430
|
+
"last_update_date": {
|
|
431
|
+
"type": "string",
|
|
432
|
+
"description": "Last update timestamp"
|
|
433
|
+
},
|
|
434
|
+
"locations": {
|
|
435
|
+
"type": "array",
|
|
436
|
+
"items": {
|
|
437
|
+
"type": "object",
|
|
438
|
+
"properties": {
|
|
439
|
+
"chromosome_name": {
|
|
440
|
+
"type": "string"
|
|
441
|
+
},
|
|
442
|
+
"chromosome_position": {
|
|
443
|
+
"type": "integer"
|
|
444
|
+
},
|
|
445
|
+
"region": {
|
|
446
|
+
"type": "object",
|
|
447
|
+
"properties": {
|
|
448
|
+
"name": {
|
|
449
|
+
"type": "string"
|
|
302
450
|
}
|
|
451
|
+
}
|
|
303
452
|
}
|
|
304
|
-
|
|
305
|
-
"metadata": {
|
|
306
|
-
"type": "object",
|
|
307
|
-
"description": "Pagination and navigation metadata",
|
|
308
|
-
"properties": {
|
|
309
|
-
"pagination": {
|
|
310
|
-
"type": "object",
|
|
311
|
-
"properties": {
|
|
312
|
-
"size": {"type": "integer"},
|
|
313
|
-
"totalElements": {"type": "integer"},
|
|
314
|
-
"totalPages": {"type": "integer"},
|
|
315
|
-
"number": {"type": "integer"}
|
|
316
|
-
}
|
|
317
|
-
},
|
|
318
|
-
"links": {"type": "object", "description": "Navigation links"}
|
|
319
|
-
}
|
|
453
|
+
}
|
|
320
454
|
}
|
|
321
|
-
|
|
322
|
-
|
|
323
|
-
|
|
324
|
-
|
|
325
|
-
|
|
326
|
-
|
|
327
|
-
|
|
328
|
-
|
|
329
|
-
|
|
330
|
-
|
|
331
|
-
"
|
|
332
|
-
|
|
333
|
-
|
|
334
|
-
"required": true
|
|
455
|
+
},
|
|
456
|
+
"alleles": {
|
|
457
|
+
"type": "string",
|
|
458
|
+
"description": "Allele information"
|
|
459
|
+
},
|
|
460
|
+
"most_severe_consequence": {
|
|
461
|
+
"type": "string",
|
|
462
|
+
"description": "Most severe functional consequence"
|
|
463
|
+
},
|
|
464
|
+
"mapped_genes": {
|
|
465
|
+
"type": "array",
|
|
466
|
+
"items": {
|
|
467
|
+
"type": "string"
|
|
335
468
|
}
|
|
469
|
+
},
|
|
470
|
+
"maf": {
|
|
471
|
+
"type": "number",
|
|
472
|
+
"description": "Minor allele frequency"
|
|
473
|
+
},
|
|
474
|
+
"minor_allele": {
|
|
475
|
+
"type": "string",
|
|
476
|
+
"description": "Minor allele"
|
|
477
|
+
},
|
|
478
|
+
"_links": {
|
|
479
|
+
"type": "object",
|
|
480
|
+
"description": "API links"
|
|
481
|
+
}
|
|
336
482
|
}
|
|
483
|
+
}
|
|
337
484
|
},
|
|
338
|
-
"
|
|
339
|
-
|
|
340
|
-
|
|
341
|
-
|
|
342
|
-
|
|
343
|
-
|
|
344
|
-
|
|
345
|
-
|
|
346
|
-
|
|
347
|
-
"association_id": {"type": "integer", "description": "Unique association identifier"},
|
|
348
|
-
"p_value": {"type": "number", "description": "Statistical p-value"},
|
|
349
|
-
"beta": {"type": "string", "description": "Effect size (beta coefficient)"},
|
|
350
|
-
"efo_traits": {
|
|
351
|
-
"type": "array",
|
|
352
|
-
"items": {
|
|
353
|
-
"type": "object",
|
|
354
|
-
"properties": {
|
|
355
|
-
"efo_id": {"type": "string"},
|
|
356
|
-
"efo_trait": {"type": "string"}
|
|
357
|
-
}
|
|
358
|
-
}
|
|
485
|
+
"metadata": {
|
|
486
|
+
"type": "object",
|
|
487
|
+
"description": "Pagination and navigation metadata",
|
|
488
|
+
"properties": {
|
|
489
|
+
"pagination": {
|
|
490
|
+
"type": "object",
|
|
491
|
+
"properties": {
|
|
492
|
+
"size": {
|
|
493
|
+
"type": "integer"
|
|
359
494
|
},
|
|
360
|
-
"
|
|
361
|
-
|
|
362
|
-
|
|
363
|
-
"
|
|
364
|
-
|
|
365
|
-
"snp_allele": {
|
|
366
|
-
"type": "array",
|
|
367
|
-
"items": {
|
|
368
|
-
"type": "object",
|
|
369
|
-
"properties": {
|
|
370
|
-
"rs_id": {"type": "string"},
|
|
371
|
-
"effect_allele": {"type": "string"}
|
|
372
|
-
}
|
|
373
|
-
}
|
|
495
|
+
"totalElements": {
|
|
496
|
+
"type": "integer"
|
|
497
|
+
},
|
|
498
|
+
"totalPages": {
|
|
499
|
+
"type": "integer"
|
|
374
500
|
},
|
|
375
|
-
"
|
|
376
|
-
|
|
377
|
-
|
|
378
|
-
|
|
379
|
-
|
|
380
|
-
|
|
381
|
-
|
|
501
|
+
"number": {
|
|
502
|
+
"type": "integer"
|
|
503
|
+
}
|
|
504
|
+
}
|
|
505
|
+
},
|
|
506
|
+
"links": {
|
|
507
|
+
"type": "object",
|
|
508
|
+
"description": "Navigation links"
|
|
382
509
|
}
|
|
510
|
+
}
|
|
511
|
+
}
|
|
512
|
+
}
|
|
513
|
+
}
|
|
514
|
+
},
|
|
515
|
+
{
|
|
516
|
+
"type": "GWASAssociationByID",
|
|
517
|
+
"name": "gwas_get_association_by_id",
|
|
518
|
+
"description": "Get a specific GWAS association by its unique identifier.",
|
|
519
|
+
"parameter": {
|
|
520
|
+
"type": "object",
|
|
521
|
+
"properties": {
|
|
522
|
+
"association_id": {
|
|
523
|
+
"type": "string",
|
|
524
|
+
"description": "GWAS association identifier"
|
|
383
525
|
}
|
|
526
|
+
},
|
|
527
|
+
"required": [
|
|
528
|
+
"association_id"
|
|
529
|
+
]
|
|
384
530
|
},
|
|
385
|
-
|
|
386
|
-
|
|
387
|
-
|
|
388
|
-
|
|
389
|
-
|
|
531
|
+
"label": [
|
|
532
|
+
"GWAS",
|
|
533
|
+
"Association",
|
|
534
|
+
"Lookup"
|
|
535
|
+
],
|
|
536
|
+
"return_schema": {
|
|
537
|
+
"type": "object",
|
|
538
|
+
"description": "Single GWAS association object",
|
|
539
|
+
"properties": {
|
|
540
|
+
"association_id": {
|
|
541
|
+
"type": "integer",
|
|
542
|
+
"description": "Unique association identifier"
|
|
543
|
+
},
|
|
544
|
+
"p_value": {
|
|
545
|
+
"type": "number",
|
|
546
|
+
"description": "Statistical p-value"
|
|
547
|
+
},
|
|
548
|
+
"beta": {
|
|
549
|
+
"type": "string",
|
|
550
|
+
"description": "Effect size (beta coefficient)"
|
|
551
|
+
},
|
|
552
|
+
"efo_traits": {
|
|
553
|
+
"type": "array",
|
|
554
|
+
"items": {
|
|
390
555
|
"type": "object",
|
|
391
556
|
"properties": {
|
|
392
|
-
|
|
393
|
-
|
|
394
|
-
|
|
395
|
-
|
|
396
|
-
|
|
557
|
+
"efo_id": {
|
|
558
|
+
"type": "string"
|
|
559
|
+
},
|
|
560
|
+
"efo_trait": {
|
|
561
|
+
"type": "string"
|
|
562
|
+
}
|
|
397
563
|
}
|
|
564
|
+
}
|
|
565
|
+
},
|
|
566
|
+
"reported_trait": {
|
|
567
|
+
"type": "array",
|
|
568
|
+
"items": {
|
|
569
|
+
"type": "string"
|
|
570
|
+
}
|
|
571
|
+
},
|
|
572
|
+
"accession_id": {
|
|
573
|
+
"type": "string",
|
|
574
|
+
"description": "Study accession ID"
|
|
575
|
+
},
|
|
576
|
+
"pubmed_id": {
|
|
577
|
+
"type": "string",
|
|
578
|
+
"description": "PubMed reference"
|
|
579
|
+
},
|
|
580
|
+
"first_author": {
|
|
581
|
+
"type": "string",
|
|
582
|
+
"description": "First author name"
|
|
583
|
+
},
|
|
584
|
+
"snp_effect_allele": {
|
|
585
|
+
"type": "array",
|
|
586
|
+
"items": {
|
|
587
|
+
"type": "string"
|
|
588
|
+
}
|
|
398
589
|
},
|
|
399
|
-
"
|
|
400
|
-
|
|
401
|
-
|
|
402
|
-
"Lookup"
|
|
403
|
-
],
|
|
404
|
-
"return_schema": {
|
|
590
|
+
"snp_allele": {
|
|
591
|
+
"type": "array",
|
|
592
|
+
"items": {
|
|
405
593
|
"type": "object",
|
|
406
|
-
"description": "Single GWAS study object",
|
|
407
594
|
"properties": {
|
|
408
|
-
|
|
409
|
-
"
|
|
410
|
-
|
|
411
|
-
|
|
412
|
-
|
|
413
|
-
|
|
414
|
-
"properties": {
|
|
415
|
-
"efo_id": {"type": "string"},
|
|
416
|
-
"efo_trait": {"type": "string"}
|
|
417
|
-
}
|
|
418
|
-
}
|
|
419
|
-
},
|
|
420
|
-
"initial_sample_size": {"type": "string", "description": "Initial sample size description"},
|
|
421
|
-
"replication_sample_size": {"type": "string", "description": "Replication sample size"},
|
|
422
|
-
"discovery_ancestry": {"type": "array", "items": {"type": "string"}},
|
|
423
|
-
"replication_ancestry": {"type": "array", "items": {"type": "string"}},
|
|
424
|
-
"cohort": {"type": "array", "items": {"type": "string"}},
|
|
425
|
-
"genotyping_technologies": {"type": "array", "items": {"type": "string"}},
|
|
426
|
-
"platforms": {"type": "string", "description": "Genotyping platforms used"},
|
|
427
|
-
"snp_count": {"type": "integer", "description": "Number of SNPs analyzed"},
|
|
428
|
-
"imputed": {"type": "boolean", "description": "Whether data was imputed"},
|
|
429
|
-
"pooled": {"type": "boolean", "description": "Whether data was pooled"},
|
|
430
|
-
"gxe": {"type": "boolean", "description": "Gene-environment interaction study"},
|
|
431
|
-
"gxg": {"type": "boolean", "description": "Gene-gene interaction study"},
|
|
432
|
-
"full_summary_stats_available": {"type": "boolean", "description": "Full summary statistics available"},
|
|
433
|
-
"full_summary_stats": {"type": "string", "description": "URL to full summary statistics"},
|
|
434
|
-
"pubmed_id": {"type": "string", "description": "PubMed reference"},
|
|
435
|
-
"terms_of_license": {"type": "string", "description": "Data usage license"},
|
|
436
|
-
"array_manufacturer": {"type": "array", "items": {"type": "string"}},
|
|
437
|
-
"_links": {"type": "object", "description": "API links"}
|
|
595
|
+
"rs_id": {
|
|
596
|
+
"type": "string"
|
|
597
|
+
},
|
|
598
|
+
"effect_allele": {
|
|
599
|
+
"type": "string"
|
|
600
|
+
}
|
|
438
601
|
}
|
|
602
|
+
}
|
|
603
|
+
},
|
|
604
|
+
"locations": {
|
|
605
|
+
"type": "array",
|
|
606
|
+
"items": {
|
|
607
|
+
"type": "string"
|
|
608
|
+
}
|
|
609
|
+
},
|
|
610
|
+
"mapped_genes": {
|
|
611
|
+
"type": "array",
|
|
612
|
+
"items": {
|
|
613
|
+
"type": "string"
|
|
614
|
+
}
|
|
615
|
+
},
|
|
616
|
+
"ci_lower": {
|
|
617
|
+
"type": "number",
|
|
618
|
+
"description": "Lower confidence interval"
|
|
619
|
+
},
|
|
620
|
+
"ci_upper": {
|
|
621
|
+
"type": "number",
|
|
622
|
+
"description": "Upper confidence interval"
|
|
623
|
+
},
|
|
624
|
+
"risk_frequency": {
|
|
625
|
+
"type": "string",
|
|
626
|
+
"description": "Risk allele frequency"
|
|
627
|
+
},
|
|
628
|
+
"range": {
|
|
629
|
+
"type": "string",
|
|
630
|
+
"description": "Effect size range"
|
|
631
|
+
},
|
|
632
|
+
"_links": {
|
|
633
|
+
"type": "object",
|
|
634
|
+
"description": "API links"
|
|
439
635
|
}
|
|
636
|
+
}
|
|
637
|
+
}
|
|
638
|
+
},
|
|
639
|
+
{
|
|
640
|
+
"type": "GWASStudyByID",
|
|
641
|
+
"name": "gwas_get_study_by_id",
|
|
642
|
+
"description": "Get a specific GWAS study by its unique identifier.",
|
|
643
|
+
"parameter": {
|
|
644
|
+
"type": "object",
|
|
645
|
+
"properties": {
|
|
646
|
+
"study_id": {
|
|
647
|
+
"type": "string",
|
|
648
|
+
"description": "GWAS study identifier"
|
|
649
|
+
}
|
|
650
|
+
},
|
|
651
|
+
"required": [
|
|
652
|
+
"study_id"
|
|
653
|
+
]
|
|
440
654
|
},
|
|
441
|
-
|
|
442
|
-
|
|
443
|
-
|
|
444
|
-
|
|
445
|
-
|
|
446
|
-
|
|
447
|
-
|
|
448
|
-
|
|
449
|
-
|
|
450
|
-
|
|
451
|
-
|
|
452
|
-
|
|
453
|
-
|
|
655
|
+
"label": [
|
|
656
|
+
"GWAS",
|
|
657
|
+
"Study",
|
|
658
|
+
"Lookup"
|
|
659
|
+
],
|
|
660
|
+
"return_schema": {
|
|
661
|
+
"type": "object",
|
|
662
|
+
"description": "Single GWAS study object",
|
|
663
|
+
"properties": {
|
|
664
|
+
"accession_id": {
|
|
665
|
+
"type": "string",
|
|
666
|
+
"description": "Study accession identifier"
|
|
667
|
+
},
|
|
668
|
+
"disease_trait": {
|
|
669
|
+
"type": "string",
|
|
670
|
+
"description": "Disease or trait name"
|
|
454
671
|
},
|
|
455
|
-
"
|
|
456
|
-
|
|
457
|
-
|
|
458
|
-
"Lookup"
|
|
459
|
-
],
|
|
460
|
-
"return_schema": {
|
|
672
|
+
"efo_traits": {
|
|
673
|
+
"type": "array",
|
|
674
|
+
"items": {
|
|
461
675
|
"type": "object",
|
|
462
|
-
"description": "Single SNP object",
|
|
463
676
|
"properties": {
|
|
464
|
-
|
|
465
|
-
"
|
|
466
|
-
|
|
467
|
-
|
|
468
|
-
"
|
|
469
|
-
|
|
470
|
-
"items": {
|
|
471
|
-
"type": "object",
|
|
472
|
-
"properties": {
|
|
473
|
-
"chromosome_name": {"type": "string"},
|
|
474
|
-
"chromosome_position": {"type": "integer"},
|
|
475
|
-
"region": {
|
|
476
|
-
"type": "object",
|
|
477
|
-
"properties": {
|
|
478
|
-
"name": {"type": "string"}
|
|
479
|
-
}
|
|
480
|
-
}
|
|
481
|
-
}
|
|
482
|
-
}
|
|
483
|
-
},
|
|
484
|
-
"alleles": {"type": "string", "description": "Allele information"},
|
|
485
|
-
"most_severe_consequence": {"type": "string", "description": "Most severe functional consequence"},
|
|
486
|
-
"mapped_genes": {"type": "array", "items": {"type": "string"}},
|
|
487
|
-
"maf": {"type": "number", "description": "Minor allele frequency"},
|
|
488
|
-
"minor_allele": {"type": "string", "description": "Minor allele"},
|
|
489
|
-
"_links": {"type": "object", "description": "API links"}
|
|
677
|
+
"efo_id": {
|
|
678
|
+
"type": "string"
|
|
679
|
+
},
|
|
680
|
+
"efo_trait": {
|
|
681
|
+
"type": "string"
|
|
682
|
+
}
|
|
490
683
|
}
|
|
684
|
+
}
|
|
685
|
+
},
|
|
686
|
+
"initial_sample_size": {
|
|
687
|
+
"type": "string",
|
|
688
|
+
"description": "Initial sample size description"
|
|
689
|
+
},
|
|
690
|
+
"replication_sample_size": {
|
|
691
|
+
"type": "string",
|
|
692
|
+
"description": "Replication sample size"
|
|
693
|
+
},
|
|
694
|
+
"discovery_ancestry": {
|
|
695
|
+
"type": "array",
|
|
696
|
+
"items": {
|
|
697
|
+
"type": "string"
|
|
698
|
+
}
|
|
699
|
+
},
|
|
700
|
+
"replication_ancestry": {
|
|
701
|
+
"type": "array",
|
|
702
|
+
"items": {
|
|
703
|
+
"type": "string"
|
|
704
|
+
}
|
|
705
|
+
},
|
|
706
|
+
"cohort": {
|
|
707
|
+
"type": "array",
|
|
708
|
+
"items": {
|
|
709
|
+
"type": "string"
|
|
710
|
+
}
|
|
711
|
+
},
|
|
712
|
+
"genotyping_technologies": {
|
|
713
|
+
"type": "array",
|
|
714
|
+
"items": {
|
|
715
|
+
"type": "string"
|
|
716
|
+
}
|
|
717
|
+
},
|
|
718
|
+
"platforms": {
|
|
719
|
+
"type": "string",
|
|
720
|
+
"description": "Genotyping platforms used"
|
|
721
|
+
},
|
|
722
|
+
"snp_count": {
|
|
723
|
+
"type": "integer",
|
|
724
|
+
"description": "Number of SNPs analyzed"
|
|
725
|
+
},
|
|
726
|
+
"imputed": {
|
|
727
|
+
"type": "boolean",
|
|
728
|
+
"description": "Whether data was imputed"
|
|
729
|
+
},
|
|
730
|
+
"pooled": {
|
|
731
|
+
"type": "boolean",
|
|
732
|
+
"description": "Whether data was pooled"
|
|
733
|
+
},
|
|
734
|
+
"gxe": {
|
|
735
|
+
"type": "boolean",
|
|
736
|
+
"description": "Gene-environment interaction study"
|
|
737
|
+
},
|
|
738
|
+
"gxg": {
|
|
739
|
+
"type": "boolean",
|
|
740
|
+
"description": "Gene-gene interaction study"
|
|
741
|
+
},
|
|
742
|
+
"full_summary_stats_available": {
|
|
743
|
+
"type": "boolean",
|
|
744
|
+
"description": "Full summary statistics available"
|
|
745
|
+
},
|
|
746
|
+
"full_summary_stats": {
|
|
747
|
+
"type": "string",
|
|
748
|
+
"description": "URL to full summary statistics"
|
|
749
|
+
},
|
|
750
|
+
"pubmed_id": {
|
|
751
|
+
"type": "string",
|
|
752
|
+
"description": "PubMed reference"
|
|
753
|
+
},
|
|
754
|
+
"terms_of_license": {
|
|
755
|
+
"type": "string",
|
|
756
|
+
"description": "Data usage license"
|
|
757
|
+
},
|
|
758
|
+
"array_manufacturer": {
|
|
759
|
+
"type": "array",
|
|
760
|
+
"items": {
|
|
761
|
+
"type": "string"
|
|
762
|
+
}
|
|
763
|
+
},
|
|
764
|
+
"_links": {
|
|
765
|
+
"type": "object",
|
|
766
|
+
"description": "API links"
|
|
767
|
+
}
|
|
768
|
+
}
|
|
769
|
+
}
|
|
770
|
+
},
|
|
771
|
+
{
|
|
772
|
+
"type": "GWASSNPByID",
|
|
773
|
+
"name": "gwas_get_snp_by_id",
|
|
774
|
+
"description": "Get a specific GWAS SNP by its rs ID.",
|
|
775
|
+
"parameter": {
|
|
776
|
+
"type": "object",
|
|
777
|
+
"properties": {
|
|
778
|
+
"rs_id": {
|
|
779
|
+
"type": "string",
|
|
780
|
+
"description": "dbSNP rs identifier"
|
|
491
781
|
}
|
|
782
|
+
},
|
|
783
|
+
"required": [
|
|
784
|
+
"rs_id"
|
|
785
|
+
]
|
|
492
786
|
},
|
|
493
|
-
|
|
494
|
-
|
|
495
|
-
|
|
496
|
-
|
|
497
|
-
|
|
787
|
+
"label": [
|
|
788
|
+
"GWAS",
|
|
789
|
+
"SNP",
|
|
790
|
+
"Lookup"
|
|
791
|
+
],
|
|
792
|
+
"return_schema": {
|
|
793
|
+
"type": "object",
|
|
794
|
+
"description": "Single SNP object",
|
|
795
|
+
"properties": {
|
|
796
|
+
"rs_id": {
|
|
797
|
+
"type": "string",
|
|
798
|
+
"description": "dbSNP rs identifier"
|
|
799
|
+
},
|
|
800
|
+
"merged": {
|
|
801
|
+
"type": "integer",
|
|
802
|
+
"description": "Merged status"
|
|
803
|
+
},
|
|
804
|
+
"functional_class": {
|
|
805
|
+
"type": "string",
|
|
806
|
+
"description": "Functional classification"
|
|
807
|
+
},
|
|
808
|
+
"last_update_date": {
|
|
809
|
+
"type": "string",
|
|
810
|
+
"description": "Last update timestamp"
|
|
811
|
+
},
|
|
812
|
+
"locations": {
|
|
813
|
+
"type": "array",
|
|
814
|
+
"items": {
|
|
498
815
|
"type": "object",
|
|
499
816
|
"properties": {
|
|
500
|
-
|
|
501
|
-
|
|
502
|
-
|
|
503
|
-
|
|
504
|
-
|
|
505
|
-
|
|
506
|
-
|
|
507
|
-
|
|
508
|
-
|
|
509
|
-
|
|
510
|
-
|
|
511
|
-
|
|
512
|
-
"description": "Page number for pagination",
|
|
513
|
-
"required": false
|
|
817
|
+
"chromosome_name": {
|
|
818
|
+
"type": "string"
|
|
819
|
+
},
|
|
820
|
+
"chromosome_position": {
|
|
821
|
+
"type": "integer"
|
|
822
|
+
},
|
|
823
|
+
"region": {
|
|
824
|
+
"type": "object",
|
|
825
|
+
"properties": {
|
|
826
|
+
"name": {
|
|
827
|
+
"type": "string"
|
|
828
|
+
}
|
|
514
829
|
}
|
|
830
|
+
}
|
|
515
831
|
}
|
|
832
|
+
}
|
|
833
|
+
},
|
|
834
|
+
"alleles": {
|
|
835
|
+
"type": "string",
|
|
836
|
+
"description": "Allele information"
|
|
837
|
+
},
|
|
838
|
+
"most_severe_consequence": {
|
|
839
|
+
"type": "string",
|
|
840
|
+
"description": "Most severe functional consequence"
|
|
841
|
+
},
|
|
842
|
+
"mapped_genes": {
|
|
843
|
+
"type": "array",
|
|
844
|
+
"items": {
|
|
845
|
+
"type": "string"
|
|
846
|
+
}
|
|
516
847
|
},
|
|
517
|
-
"
|
|
518
|
-
|
|
519
|
-
|
|
520
|
-
|
|
521
|
-
|
|
522
|
-
|
|
523
|
-
|
|
848
|
+
"maf": {
|
|
849
|
+
"type": "number",
|
|
850
|
+
"description": "Minor allele frequency"
|
|
851
|
+
},
|
|
852
|
+
"minor_allele": {
|
|
853
|
+
"type": "string",
|
|
854
|
+
"description": "Minor allele"
|
|
855
|
+
},
|
|
856
|
+
"_links": {
|
|
857
|
+
"type": "object",
|
|
858
|
+
"description": "API links"
|
|
859
|
+
}
|
|
860
|
+
}
|
|
861
|
+
}
|
|
862
|
+
},
|
|
863
|
+
{
|
|
864
|
+
"type": "GWASVariantsForTrait",
|
|
865
|
+
"name": "gwas_get_variants_for_trait",
|
|
866
|
+
"description": "Get all variants associated with a specific trait with pagination support.",
|
|
867
|
+
"parameter": {
|
|
868
|
+
"type": "object",
|
|
869
|
+
"properties": {
|
|
870
|
+
"efo_trait": {
|
|
871
|
+
"type": "string",
|
|
872
|
+
"description": "EFO trait identifier or name"
|
|
873
|
+
},
|
|
874
|
+
"size": {
|
|
875
|
+
"type": "integer",
|
|
876
|
+
"description": "Number of results to return per page"
|
|
877
|
+
},
|
|
878
|
+
"page": {
|
|
879
|
+
"type": "integer",
|
|
880
|
+
"description": "Page number for pagination"
|
|
881
|
+
}
|
|
882
|
+
},
|
|
883
|
+
"required": [
|
|
884
|
+
"efo_trait"
|
|
885
|
+
]
|
|
886
|
+
},
|
|
887
|
+
"label": [
|
|
888
|
+
"GWAS",
|
|
889
|
+
"Variants",
|
|
890
|
+
"Trait",
|
|
891
|
+
"Genetics"
|
|
892
|
+
],
|
|
893
|
+
"return_schema": {
|
|
894
|
+
"type": "object",
|
|
895
|
+
"description": "GWAS variants for trait results with pagination metadata",
|
|
896
|
+
"properties": {
|
|
897
|
+
"data": {
|
|
898
|
+
"type": "array",
|
|
899
|
+
"description": "Array of variant objects",
|
|
900
|
+
"items": {
|
|
524
901
|
"type": "object",
|
|
525
|
-
"description": "GWAS variants for trait results with pagination metadata",
|
|
526
902
|
"properties": {
|
|
527
|
-
|
|
528
|
-
|
|
529
|
-
|
|
530
|
-
|
|
531
|
-
|
|
532
|
-
|
|
533
|
-
|
|
534
|
-
|
|
535
|
-
|
|
536
|
-
|
|
537
|
-
|
|
538
|
-
|
|
539
|
-
|
|
540
|
-
|
|
541
|
-
|
|
542
|
-
|
|
543
|
-
|
|
544
|
-
|
|
545
|
-
|
|
546
|
-
|
|
547
|
-
|
|
548
|
-
|
|
549
|
-
|
|
550
|
-
|
|
551
|
-
|
|
552
|
-
|
|
553
|
-
|
|
554
|
-
|
|
555
|
-
|
|
556
|
-
|
|
557
|
-
|
|
558
|
-
|
|
903
|
+
"rs_id": {
|
|
904
|
+
"type": "string",
|
|
905
|
+
"description": "dbSNP rs identifier"
|
|
906
|
+
},
|
|
907
|
+
"merged": {
|
|
908
|
+
"type": "integer",
|
|
909
|
+
"description": "Merged status"
|
|
910
|
+
},
|
|
911
|
+
"functional_class": {
|
|
912
|
+
"type": "string",
|
|
913
|
+
"description": "Functional classification"
|
|
914
|
+
},
|
|
915
|
+
"last_update_date": {
|
|
916
|
+
"type": "string",
|
|
917
|
+
"description": "Last update timestamp"
|
|
918
|
+
},
|
|
919
|
+
"locations": {
|
|
920
|
+
"type": "array",
|
|
921
|
+
"items": {
|
|
922
|
+
"type": "object",
|
|
923
|
+
"properties": {
|
|
924
|
+
"chromosome_name": {
|
|
925
|
+
"type": "string"
|
|
926
|
+
},
|
|
927
|
+
"chromosome_position": {
|
|
928
|
+
"type": "integer"
|
|
929
|
+
},
|
|
930
|
+
"region": {
|
|
931
|
+
"type": "object",
|
|
932
|
+
"properties": {
|
|
933
|
+
"name": {
|
|
934
|
+
"type": "string"
|
|
559
935
|
}
|
|
936
|
+
}
|
|
560
937
|
}
|
|
561
|
-
|
|
562
|
-
"metadata": {
|
|
563
|
-
"type": "object",
|
|
564
|
-
"description": "Pagination and navigation metadata",
|
|
565
|
-
"properties": {
|
|
566
|
-
"pagination": {
|
|
567
|
-
"type": "object",
|
|
568
|
-
"properties": {
|
|
569
|
-
"size": {"type": "integer"},
|
|
570
|
-
"totalElements": {"type": "integer"},
|
|
571
|
-
"totalPages": {"type": "integer"},
|
|
572
|
-
"number": {"type": "integer"}
|
|
573
|
-
}
|
|
574
|
-
},
|
|
575
|
-
"links": {"type": "object", "description": "Navigation links"}
|
|
576
|
-
}
|
|
938
|
+
}
|
|
577
939
|
}
|
|
940
|
+
},
|
|
941
|
+
"alleles": {
|
|
942
|
+
"type": "string",
|
|
943
|
+
"description": "Allele information"
|
|
944
|
+
},
|
|
945
|
+
"most_severe_consequence": {
|
|
946
|
+
"type": "string",
|
|
947
|
+
"description": "Most severe functional consequence"
|
|
948
|
+
},
|
|
949
|
+
"mapped_genes": {
|
|
950
|
+
"type": "array",
|
|
951
|
+
"items": {
|
|
952
|
+
"type": "string"
|
|
953
|
+
}
|
|
954
|
+
},
|
|
955
|
+
"maf": {
|
|
956
|
+
"type": "number",
|
|
957
|
+
"description": "Minor allele frequency"
|
|
958
|
+
},
|
|
959
|
+
"minor_allele": {
|
|
960
|
+
"type": "string",
|
|
961
|
+
"description": "Minor allele"
|
|
962
|
+
},
|
|
963
|
+
"_links": {
|
|
964
|
+
"type": "object",
|
|
965
|
+
"description": "API links"
|
|
966
|
+
}
|
|
578
967
|
}
|
|
579
|
-
|
|
580
|
-
|
|
581
|
-
|
|
582
|
-
|
|
583
|
-
|
|
584
|
-
|
|
585
|
-
|
|
586
|
-
|
|
587
|
-
|
|
588
|
-
"efo_trait": {
|
|
589
|
-
"type": "string",
|
|
590
|
-
"description": "EFO trait identifier or name",
|
|
591
|
-
"required": true
|
|
592
|
-
},
|
|
968
|
+
}
|
|
969
|
+
},
|
|
970
|
+
"metadata": {
|
|
971
|
+
"type": "object",
|
|
972
|
+
"description": "Pagination and navigation metadata",
|
|
973
|
+
"properties": {
|
|
974
|
+
"pagination": {
|
|
975
|
+
"type": "object",
|
|
976
|
+
"properties": {
|
|
593
977
|
"size": {
|
|
594
|
-
|
|
595
|
-
|
|
596
|
-
|
|
978
|
+
"type": "integer"
|
|
979
|
+
},
|
|
980
|
+
"totalElements": {
|
|
981
|
+
"type": "integer"
|
|
597
982
|
},
|
|
598
|
-
"
|
|
599
|
-
|
|
600
|
-
|
|
601
|
-
|
|
983
|
+
"totalPages": {
|
|
984
|
+
"type": "integer"
|
|
985
|
+
},
|
|
986
|
+
"number": {
|
|
987
|
+
"type": "integer"
|
|
602
988
|
}
|
|
989
|
+
}
|
|
990
|
+
},
|
|
991
|
+
"links": {
|
|
992
|
+
"type": "object",
|
|
993
|
+
"description": "Navigation links"
|
|
603
994
|
}
|
|
995
|
+
}
|
|
996
|
+
}
|
|
997
|
+
}
|
|
998
|
+
}
|
|
999
|
+
},
|
|
1000
|
+
{
|
|
1001
|
+
"type": "GWASAssociationsForTrait",
|
|
1002
|
+
"name": "gwas_get_associations_for_trait",
|
|
1003
|
+
"description": "Get all associations for a specific trait, sorted by p-value (most significant first).",
|
|
1004
|
+
"parameter": {
|
|
1005
|
+
"type": "object",
|
|
1006
|
+
"properties": {
|
|
1007
|
+
"efo_trait": {
|
|
1008
|
+
"type": "string",
|
|
1009
|
+
"description": "EFO trait identifier or name"
|
|
1010
|
+
},
|
|
1011
|
+
"size": {
|
|
1012
|
+
"type": "integer",
|
|
1013
|
+
"description": "Number of results to return per page"
|
|
604
1014
|
},
|
|
605
|
-
"
|
|
606
|
-
|
|
607
|
-
|
|
608
|
-
|
|
609
|
-
|
|
610
|
-
|
|
611
|
-
"
|
|
1015
|
+
"page": {
|
|
1016
|
+
"type": "integer",
|
|
1017
|
+
"description": "Page number for pagination"
|
|
1018
|
+
}
|
|
1019
|
+
},
|
|
1020
|
+
"required": [
|
|
1021
|
+
"efo_trait"
|
|
1022
|
+
]
|
|
1023
|
+
},
|
|
1024
|
+
"label": [
|
|
1025
|
+
"GWAS",
|
|
1026
|
+
"Associations",
|
|
1027
|
+
"Trait",
|
|
1028
|
+
"Significance"
|
|
1029
|
+
],
|
|
1030
|
+
"return_schema": {
|
|
1031
|
+
"type": "object",
|
|
1032
|
+
"description": "GWAS associations for trait results with pagination metadata",
|
|
1033
|
+
"properties": {
|
|
1034
|
+
"data": {
|
|
1035
|
+
"type": "array",
|
|
1036
|
+
"description": "Array of GWAS association objects",
|
|
1037
|
+
"items": {
|
|
612
1038
|
"type": "object",
|
|
613
|
-
"description": "GWAS associations for trait results with pagination metadata",
|
|
614
1039
|
"properties": {
|
|
615
|
-
|
|
616
|
-
|
|
617
|
-
|
|
618
|
-
|
|
619
|
-
|
|
620
|
-
|
|
621
|
-
|
|
622
|
-
|
|
623
|
-
|
|
624
|
-
|
|
625
|
-
|
|
626
|
-
|
|
627
|
-
|
|
628
|
-
|
|
629
|
-
|
|
630
|
-
|
|
631
|
-
|
|
632
|
-
|
|
633
|
-
|
|
634
|
-
|
|
635
|
-
|
|
636
|
-
|
|
637
|
-
"first_author": {"type": "string", "description": "First author name"},
|
|
638
|
-
"snp_effect_allele": {"type": "array", "items": {"type": "string"}},
|
|
639
|
-
"snp_allele": {
|
|
640
|
-
"type": "array",
|
|
641
|
-
"items": {
|
|
642
|
-
"type": "object",
|
|
643
|
-
"properties": {
|
|
644
|
-
"rs_id": {"type": "string"},
|
|
645
|
-
"effect_allele": {"type": "string"}
|
|
646
|
-
}
|
|
647
|
-
}
|
|
648
|
-
},
|
|
649
|
-
"locations": {"type": "array", "items": {"type": "string"}},
|
|
650
|
-
"mapped_genes": {"type": "array", "items": {"type": "string"}},
|
|
651
|
-
"ci_lower": {"type": "number", "description": "Lower confidence interval"},
|
|
652
|
-
"ci_upper": {"type": "number", "description": "Upper confidence interval"},
|
|
653
|
-
"risk_frequency": {"type": "string", "description": "Risk allele frequency"},
|
|
654
|
-
"range": {"type": "string", "description": "Effect size range"},
|
|
655
|
-
"_links": {"type": "object", "description": "API links"}
|
|
656
|
-
}
|
|
1040
|
+
"association_id": {
|
|
1041
|
+
"type": "integer",
|
|
1042
|
+
"description": "Unique association identifier"
|
|
1043
|
+
},
|
|
1044
|
+
"p_value": {
|
|
1045
|
+
"type": "number",
|
|
1046
|
+
"description": "Statistical p-value"
|
|
1047
|
+
},
|
|
1048
|
+
"beta": {
|
|
1049
|
+
"type": "string",
|
|
1050
|
+
"description": "Effect size (beta coefficient)"
|
|
1051
|
+
},
|
|
1052
|
+
"efo_traits": {
|
|
1053
|
+
"type": "array",
|
|
1054
|
+
"items": {
|
|
1055
|
+
"type": "object",
|
|
1056
|
+
"properties": {
|
|
1057
|
+
"efo_id": {
|
|
1058
|
+
"type": "string"
|
|
1059
|
+
},
|
|
1060
|
+
"efo_trait": {
|
|
1061
|
+
"type": "string"
|
|
657
1062
|
}
|
|
658
|
-
|
|
659
|
-
|
|
660
|
-
|
|
661
|
-
|
|
662
|
-
|
|
663
|
-
|
|
664
|
-
|
|
665
|
-
|
|
666
|
-
|
|
667
|
-
|
|
668
|
-
|
|
669
|
-
|
|
670
|
-
|
|
671
|
-
|
|
672
|
-
|
|
1063
|
+
}
|
|
1064
|
+
}
|
|
1065
|
+
},
|
|
1066
|
+
"reported_trait": {
|
|
1067
|
+
"type": "array",
|
|
1068
|
+
"items": {
|
|
1069
|
+
"type": "string"
|
|
1070
|
+
}
|
|
1071
|
+
},
|
|
1072
|
+
"accession_id": {
|
|
1073
|
+
"type": "string",
|
|
1074
|
+
"description": "Study accession ID"
|
|
1075
|
+
},
|
|
1076
|
+
"pubmed_id": {
|
|
1077
|
+
"type": "string",
|
|
1078
|
+
"description": "PubMed reference"
|
|
1079
|
+
},
|
|
1080
|
+
"first_author": {
|
|
1081
|
+
"type": "string",
|
|
1082
|
+
"description": "First author name"
|
|
1083
|
+
},
|
|
1084
|
+
"snp_effect_allele": {
|
|
1085
|
+
"type": "array",
|
|
1086
|
+
"items": {
|
|
1087
|
+
"type": "string"
|
|
1088
|
+
}
|
|
1089
|
+
},
|
|
1090
|
+
"snp_allele": {
|
|
1091
|
+
"type": "array",
|
|
1092
|
+
"items": {
|
|
1093
|
+
"type": "object",
|
|
1094
|
+
"properties": {
|
|
1095
|
+
"rs_id": {
|
|
1096
|
+
"type": "string"
|
|
1097
|
+
},
|
|
1098
|
+
"effect_allele": {
|
|
1099
|
+
"type": "string"
|
|
673
1100
|
}
|
|
1101
|
+
}
|
|
674
1102
|
}
|
|
1103
|
+
},
|
|
1104
|
+
"locations": {
|
|
1105
|
+
"type": "array",
|
|
1106
|
+
"items": {
|
|
1107
|
+
"type": "string"
|
|
1108
|
+
}
|
|
1109
|
+
},
|
|
1110
|
+
"mapped_genes": {
|
|
1111
|
+
"type": "array",
|
|
1112
|
+
"items": {
|
|
1113
|
+
"type": "string"
|
|
1114
|
+
}
|
|
1115
|
+
},
|
|
1116
|
+
"ci_lower": {
|
|
1117
|
+
"type": "number",
|
|
1118
|
+
"description": "Lower confidence interval"
|
|
1119
|
+
},
|
|
1120
|
+
"ci_upper": {
|
|
1121
|
+
"type": "number",
|
|
1122
|
+
"description": "Upper confidence interval"
|
|
1123
|
+
},
|
|
1124
|
+
"risk_frequency": {
|
|
1125
|
+
"type": "string",
|
|
1126
|
+
"description": "Risk allele frequency"
|
|
1127
|
+
},
|
|
1128
|
+
"range": {
|
|
1129
|
+
"type": "string",
|
|
1130
|
+
"description": "Effect size range"
|
|
1131
|
+
},
|
|
1132
|
+
"_links": {
|
|
1133
|
+
"type": "object",
|
|
1134
|
+
"description": "API links"
|
|
1135
|
+
}
|
|
675
1136
|
}
|
|
676
|
-
|
|
677
|
-
|
|
678
|
-
|
|
679
|
-
|
|
680
|
-
|
|
681
|
-
|
|
682
|
-
|
|
683
|
-
|
|
684
|
-
|
|
685
|
-
"
|
|
686
|
-
|
|
687
|
-
"description": "dbSNP rs identifier",
|
|
688
|
-
"required": true
|
|
689
|
-
},
|
|
690
|
-
"sort": {
|
|
691
|
-
"type": "string",
|
|
692
|
-
"description": "Sort field (e.g., 'p_value', 'or_value')",
|
|
693
|
-
"required": false
|
|
1137
|
+
}
|
|
1138
|
+
},
|
|
1139
|
+
"metadata": {
|
|
1140
|
+
"type": "object",
|
|
1141
|
+
"description": "Pagination and navigation metadata",
|
|
1142
|
+
"properties": {
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|
1143
|
+
"pagination": {
|
|
1144
|
+
"type": "object",
|
|
1145
|
+
"properties": {
|
|
1146
|
+
"size": {
|
|
1147
|
+
"type": "integer"
|
|
694
1148
|
},
|
|
695
|
-
"
|
|
696
|
-
|
|
697
|
-
"description": "Sort direction ('asc' or 'desc')",
|
|
698
|
-
"required": false
|
|
1149
|
+
"totalElements": {
|
|
1150
|
+
"type": "integer"
|
|
699
1151
|
},
|
|
700
|
-
"
|
|
701
|
-
|
|
702
|
-
"description": "Number of results to return per page",
|
|
703
|
-
"required": false
|
|
1152
|
+
"totalPages": {
|
|
1153
|
+
"type": "integer"
|
|
704
1154
|
},
|
|
705
|
-
"
|
|
706
|
-
|
|
707
|
-
"description": "Page number for pagination",
|
|
708
|
-
"required": false
|
|
1155
|
+
"number": {
|
|
1156
|
+
"type": "integer"
|
|
709
1157
|
}
|
|
1158
|
+
}
|
|
1159
|
+
},
|
|
1160
|
+
"links": {
|
|
1161
|
+
"type": "object",
|
|
1162
|
+
"description": "Navigation links"
|
|
710
1163
|
}
|
|
1164
|
+
}
|
|
1165
|
+
}
|
|
1166
|
+
}
|
|
1167
|
+
}
|
|
1168
|
+
},
|
|
1169
|
+
{
|
|
1170
|
+
"type": "GWASAssociationsForSNP",
|
|
1171
|
+
"name": "gwas_get_associations_for_snp",
|
|
1172
|
+
"description": "Get all associations for a specific SNP with optional sorting.",
|
|
1173
|
+
"parameter": {
|
|
1174
|
+
"type": "object",
|
|
1175
|
+
"properties": {
|
|
1176
|
+
"rs_id": {
|
|
1177
|
+
"type": "string",
|
|
1178
|
+
"description": "dbSNP rs identifier"
|
|
711
1179
|
},
|
|
712
|
-
"
|
|
713
|
-
|
|
714
|
-
|
|
715
|
-
|
|
716
|
-
|
|
717
|
-
|
|
718
|
-
|
|
1180
|
+
"sort": {
|
|
1181
|
+
"type": "string",
|
|
1182
|
+
"description": "Sort field (e.g., 'p_value', 'or_value')"
|
|
1183
|
+
},
|
|
1184
|
+
"direction": {
|
|
1185
|
+
"type": "string",
|
|
1186
|
+
"description": "Sort direction ('asc' or 'desc')"
|
|
1187
|
+
},
|
|
1188
|
+
"size": {
|
|
1189
|
+
"type": "integer",
|
|
1190
|
+
"description": "Number of results to return per page"
|
|
1191
|
+
},
|
|
1192
|
+
"page": {
|
|
1193
|
+
"type": "integer",
|
|
1194
|
+
"description": "Page number for pagination"
|
|
1195
|
+
}
|
|
1196
|
+
},
|
|
1197
|
+
"required": [
|
|
1198
|
+
"rs_id"
|
|
1199
|
+
]
|
|
1200
|
+
},
|
|
1201
|
+
"label": [
|
|
1202
|
+
"GWAS",
|
|
1203
|
+
"Associations",
|
|
1204
|
+
"SNP",
|
|
1205
|
+
"Traits"
|
|
1206
|
+
],
|
|
1207
|
+
"return_schema": {
|
|
1208
|
+
"type": "object",
|
|
1209
|
+
"description": "GWAS associations for SNP results with pagination metadata",
|
|
1210
|
+
"properties": {
|
|
1211
|
+
"data": {
|
|
1212
|
+
"type": "array",
|
|
1213
|
+
"description": "Array of GWAS association objects",
|
|
1214
|
+
"items": {
|
|
719
1215
|
"type": "object",
|
|
720
|
-
"description": "GWAS associations for SNP results with pagination metadata",
|
|
721
1216
|
"properties": {
|
|
722
|
-
|
|
723
|
-
|
|
724
|
-
|
|
725
|
-
|
|
726
|
-
|
|
727
|
-
|
|
728
|
-
|
|
729
|
-
|
|
730
|
-
|
|
731
|
-
|
|
732
|
-
|
|
733
|
-
|
|
734
|
-
|
|
735
|
-
|
|
736
|
-
|
|
737
|
-
|
|
738
|
-
|
|
739
|
-
|
|
740
|
-
|
|
741
|
-
|
|
742
|
-
|
|
743
|
-
|
|
744
|
-
"first_author": {"type": "string", "description": "First author name"},
|
|
745
|
-
"snp_effect_allele": {"type": "array", "items": {"type": "string"}},
|
|
746
|
-
"snp_allele": {
|
|
747
|
-
"type": "array",
|
|
748
|
-
"items": {
|
|
749
|
-
"type": "object",
|
|
750
|
-
"properties": {
|
|
751
|
-
"rs_id": {"type": "string"},
|
|
752
|
-
"effect_allele": {"type": "string"}
|
|
753
|
-
}
|
|
754
|
-
}
|
|
755
|
-
},
|
|
756
|
-
"locations": {"type": "array", "items": {"type": "string"}},
|
|
757
|
-
"mapped_genes": {"type": "array", "items": {"type": "string"}},
|
|
758
|
-
"ci_lower": {"type": "number", "description": "Lower confidence interval"},
|
|
759
|
-
"ci_upper": {"type": "number", "description": "Upper confidence interval"},
|
|
760
|
-
"risk_frequency": {"type": "string", "description": "Risk allele frequency"},
|
|
761
|
-
"range": {"type": "string", "description": "Effect size range"},
|
|
762
|
-
"_links": {"type": "object", "description": "API links"}
|
|
763
|
-
}
|
|
1217
|
+
"association_id": {
|
|
1218
|
+
"type": "integer",
|
|
1219
|
+
"description": "Unique association identifier"
|
|
1220
|
+
},
|
|
1221
|
+
"p_value": {
|
|
1222
|
+
"type": "number",
|
|
1223
|
+
"description": "Statistical p-value"
|
|
1224
|
+
},
|
|
1225
|
+
"beta": {
|
|
1226
|
+
"type": "string",
|
|
1227
|
+
"description": "Effect size (beta coefficient)"
|
|
1228
|
+
},
|
|
1229
|
+
"efo_traits": {
|
|
1230
|
+
"type": "array",
|
|
1231
|
+
"items": {
|
|
1232
|
+
"type": "object",
|
|
1233
|
+
"properties": {
|
|
1234
|
+
"efo_id": {
|
|
1235
|
+
"type": "string"
|
|
1236
|
+
},
|
|
1237
|
+
"efo_trait": {
|
|
1238
|
+
"type": "string"
|
|
764
1239
|
}
|
|
765
|
-
|
|
766
|
-
|
|
767
|
-
|
|
768
|
-
|
|
769
|
-
|
|
770
|
-
|
|
771
|
-
|
|
772
|
-
|
|
773
|
-
|
|
774
|
-
|
|
775
|
-
|
|
776
|
-
|
|
777
|
-
|
|
778
|
-
|
|
779
|
-
|
|
1240
|
+
}
|
|
1241
|
+
}
|
|
1242
|
+
},
|
|
1243
|
+
"reported_trait": {
|
|
1244
|
+
"type": "array",
|
|
1245
|
+
"items": {
|
|
1246
|
+
"type": "string"
|
|
1247
|
+
}
|
|
1248
|
+
},
|
|
1249
|
+
"accession_id": {
|
|
1250
|
+
"type": "string",
|
|
1251
|
+
"description": "Study accession ID"
|
|
1252
|
+
},
|
|
1253
|
+
"pubmed_id": {
|
|
1254
|
+
"type": "string",
|
|
1255
|
+
"description": "PubMed reference"
|
|
1256
|
+
},
|
|
1257
|
+
"first_author": {
|
|
1258
|
+
"type": "string",
|
|
1259
|
+
"description": "First author name"
|
|
1260
|
+
},
|
|
1261
|
+
"snp_effect_allele": {
|
|
1262
|
+
"type": "array",
|
|
1263
|
+
"items": {
|
|
1264
|
+
"type": "string"
|
|
1265
|
+
}
|
|
1266
|
+
},
|
|
1267
|
+
"snp_allele": {
|
|
1268
|
+
"type": "array",
|
|
1269
|
+
"items": {
|
|
1270
|
+
"type": "object",
|
|
1271
|
+
"properties": {
|
|
1272
|
+
"rs_id": {
|
|
1273
|
+
"type": "string"
|
|
1274
|
+
},
|
|
1275
|
+
"effect_allele": {
|
|
1276
|
+
"type": "string"
|
|
780
1277
|
}
|
|
1278
|
+
}
|
|
1279
|
+
}
|
|
1280
|
+
},
|
|
1281
|
+
"locations": {
|
|
1282
|
+
"type": "array",
|
|
1283
|
+
"items": {
|
|
1284
|
+
"type": "string"
|
|
1285
|
+
}
|
|
1286
|
+
},
|
|
1287
|
+
"mapped_genes": {
|
|
1288
|
+
"type": "array",
|
|
1289
|
+
"items": {
|
|
1290
|
+
"type": "string"
|
|
781
1291
|
}
|
|
1292
|
+
},
|
|
1293
|
+
"ci_lower": {
|
|
1294
|
+
"type": "number",
|
|
1295
|
+
"description": "Lower confidence interval"
|
|
1296
|
+
},
|
|
1297
|
+
"ci_upper": {
|
|
1298
|
+
"type": "number",
|
|
1299
|
+
"description": "Upper confidence interval"
|
|
1300
|
+
},
|
|
1301
|
+
"risk_frequency": {
|
|
1302
|
+
"type": "string",
|
|
1303
|
+
"description": "Risk allele frequency"
|
|
1304
|
+
},
|
|
1305
|
+
"range": {
|
|
1306
|
+
"type": "string",
|
|
1307
|
+
"description": "Effect size range"
|
|
1308
|
+
},
|
|
1309
|
+
"_links": {
|
|
1310
|
+
"type": "object",
|
|
1311
|
+
"description": "API links"
|
|
1312
|
+
}
|
|
782
1313
|
}
|
|
783
|
-
|
|
784
|
-
|
|
785
|
-
|
|
786
|
-
|
|
787
|
-
|
|
788
|
-
|
|
789
|
-
|
|
790
|
-
|
|
791
|
-
|
|
792
|
-
"
|
|
793
|
-
|
|
794
|
-
"description": "EFO trait identifier or name",
|
|
795
|
-
"required": false
|
|
796
|
-
},
|
|
797
|
-
"disease_trait": {
|
|
798
|
-
"type": "string",
|
|
799
|
-
"description": "Disease trait name",
|
|
800
|
-
"required": false
|
|
801
|
-
},
|
|
802
|
-
"cohort": {
|
|
803
|
-
"type": "string",
|
|
804
|
-
"description": "Cohort name (e.g., 'UKB' for UK Biobank)",
|
|
805
|
-
"required": false
|
|
1314
|
+
}
|
|
1315
|
+
},
|
|
1316
|
+
"metadata": {
|
|
1317
|
+
"type": "object",
|
|
1318
|
+
"description": "Pagination and navigation metadata",
|
|
1319
|
+
"properties": {
|
|
1320
|
+
"pagination": {
|
|
1321
|
+
"type": "object",
|
|
1322
|
+
"properties": {
|
|
1323
|
+
"size": {
|
|
1324
|
+
"type": "integer"
|
|
806
1325
|
},
|
|
807
|
-
"
|
|
808
|
-
|
|
809
|
-
"description": "Filter for Gene-by-Environment interaction studies",
|
|
810
|
-
"required": false
|
|
1326
|
+
"totalElements": {
|
|
1327
|
+
"type": "integer"
|
|
811
1328
|
},
|
|
812
|
-
"
|
|
813
|
-
|
|
814
|
-
"description": "Filter for studies with full summary statistics",
|
|
815
|
-
"required": false
|
|
1329
|
+
"totalPages": {
|
|
1330
|
+
"type": "integer"
|
|
816
1331
|
},
|
|
817
|
-
"
|
|
818
|
-
|
|
819
|
-
"description": "Number of results to return per page",
|
|
820
|
-
"required": false
|
|
821
|
-
},
|
|
822
|
-
"page": {
|
|
823
|
-
"type": "integer",
|
|
824
|
-
"description": "Page number for pagination",
|
|
825
|
-
"required": false
|
|
1332
|
+
"number": {
|
|
1333
|
+
"type": "integer"
|
|
826
1334
|
}
|
|
1335
|
+
}
|
|
1336
|
+
},
|
|
1337
|
+
"links": {
|
|
1338
|
+
"type": "object",
|
|
1339
|
+
"description": "Navigation links"
|
|
827
1340
|
}
|
|
1341
|
+
}
|
|
1342
|
+
}
|
|
1343
|
+
}
|
|
1344
|
+
}
|
|
1345
|
+
},
|
|
1346
|
+
{
|
|
1347
|
+
"type": "GWASStudiesForTrait",
|
|
1348
|
+
"name": "gwas_get_studies_for_trait",
|
|
1349
|
+
"description": "Get studies for a specific trait with optional filters for cohort, GxE interactions, and summary statistics.",
|
|
1350
|
+
"parameter": {
|
|
1351
|
+
"type": "object",
|
|
1352
|
+
"properties": {
|
|
1353
|
+
"efo_trait": {
|
|
1354
|
+
"type": "string",
|
|
1355
|
+
"description": "EFO trait identifier or name"
|
|
1356
|
+
},
|
|
1357
|
+
"disease_trait": {
|
|
1358
|
+
"type": "string",
|
|
1359
|
+
"description": "Disease trait name"
|
|
828
1360
|
},
|
|
829
|
-
"
|
|
830
|
-
|
|
831
|
-
|
|
832
|
-
|
|
833
|
-
|
|
834
|
-
|
|
835
|
-
|
|
1361
|
+
"cohort": {
|
|
1362
|
+
"type": "string",
|
|
1363
|
+
"description": "Cohort name (e.g., 'UKB' for UK Biobank)"
|
|
1364
|
+
},
|
|
1365
|
+
"gxe": {
|
|
1366
|
+
"type": "boolean",
|
|
1367
|
+
"description": "Filter for Gene-by-Environment interaction studies"
|
|
1368
|
+
},
|
|
1369
|
+
"full_pvalue_set": {
|
|
1370
|
+
"type": "boolean",
|
|
1371
|
+
"description": "Filter for studies with full summary statistics"
|
|
1372
|
+
},
|
|
1373
|
+
"size": {
|
|
1374
|
+
"type": "integer",
|
|
1375
|
+
"description": "Number of results to return per page"
|
|
1376
|
+
},
|
|
1377
|
+
"page": {
|
|
1378
|
+
"type": "integer",
|
|
1379
|
+
"description": "Page number for pagination"
|
|
1380
|
+
}
|
|
1381
|
+
},
|
|
1382
|
+
"required": []
|
|
1383
|
+
},
|
|
1384
|
+
"label": [
|
|
1385
|
+
"GWAS",
|
|
1386
|
+
"Studies",
|
|
1387
|
+
"Trait",
|
|
1388
|
+
"Research"
|
|
1389
|
+
],
|
|
1390
|
+
"return_schema": {
|
|
1391
|
+
"type": "object",
|
|
1392
|
+
"description": "GWAS studies for trait results with pagination metadata",
|
|
1393
|
+
"properties": {
|
|
1394
|
+
"data": {
|
|
1395
|
+
"type": "array",
|
|
1396
|
+
"description": "Array of GWAS study objects",
|
|
1397
|
+
"items": {
|
|
836
1398
|
"type": "object",
|
|
837
|
-
"description": "GWAS studies for trait results with pagination metadata",
|
|
838
1399
|
"properties": {
|
|
839
|
-
|
|
840
|
-
|
|
841
|
-
|
|
842
|
-
|
|
843
|
-
|
|
844
|
-
|
|
845
|
-
|
|
846
|
-
|
|
847
|
-
|
|
848
|
-
|
|
849
|
-
|
|
850
|
-
|
|
851
|
-
|
|
852
|
-
|
|
853
|
-
|
|
854
|
-
|
|
855
|
-
|
|
856
|
-
|
|
857
|
-
"initial_sample_size": {"type": "string", "description": "Initial sample size description"},
|
|
858
|
-
"replication_sample_size": {"type": "string", "description": "Replication sample size"},
|
|
859
|
-
"discovery_ancestry": {"type": "array", "items": {"type": "string"}},
|
|
860
|
-
"replication_ancestry": {"type": "array", "items": {"type": "string"}},
|
|
861
|
-
"cohort": {"type": "array", "items": {"type": "string"}},
|
|
862
|
-
"genotyping_technologies": {"type": "array", "items": {"type": "string"}},
|
|
863
|
-
"platforms": {"type": "string", "description": "Genotyping platforms used"},
|
|
864
|
-
"snp_count": {"type": "integer", "description": "Number of SNPs analyzed"},
|
|
865
|
-
"imputed": {"type": "boolean", "description": "Whether data was imputed"},
|
|
866
|
-
"pooled": {"type": "boolean", "description": "Whether data was pooled"},
|
|
867
|
-
"gxe": {"type": "boolean", "description": "Gene-environment interaction study"},
|
|
868
|
-
"gxg": {"type": "boolean", "description": "Gene-gene interaction study"},
|
|
869
|
-
"full_summary_stats_available": {"type": "boolean", "description": "Full summary statistics available"},
|
|
870
|
-
"full_summary_stats": {"type": "string", "description": "URL to full summary statistics"},
|
|
871
|
-
"pubmed_id": {"type": "string", "description": "PubMed reference"},
|
|
872
|
-
"terms_of_license": {"type": "string", "description": "Data usage license"},
|
|
873
|
-
"array_manufacturer": {"type": "array", "items": {"type": "string"}},
|
|
874
|
-
"_links": {"type": "object", "description": "API links"}
|
|
875
|
-
}
|
|
876
|
-
}
|
|
877
|
-
},
|
|
878
|
-
"metadata": {
|
|
879
|
-
"type": "object",
|
|
880
|
-
"description": "Pagination and navigation metadata",
|
|
881
|
-
"properties": {
|
|
882
|
-
"pagination": {
|
|
883
|
-
"type": "object",
|
|
884
|
-
"properties": {
|
|
885
|
-
"size": {"type": "integer"},
|
|
886
|
-
"totalElements": {"type": "integer"},
|
|
887
|
-
"totalPages": {"type": "integer"},
|
|
888
|
-
"number": {"type": "integer"}
|
|
889
|
-
}
|
|
890
|
-
},
|
|
891
|
-
"links": {"type": "object", "description": "Navigation links"}
|
|
1400
|
+
"accession_id": {
|
|
1401
|
+
"type": "string",
|
|
1402
|
+
"description": "Study accession identifier"
|
|
1403
|
+
},
|
|
1404
|
+
"disease_trait": {
|
|
1405
|
+
"type": "string",
|
|
1406
|
+
"description": "Disease or trait name"
|
|
1407
|
+
},
|
|
1408
|
+
"efo_traits": {
|
|
1409
|
+
"type": "array",
|
|
1410
|
+
"items": {
|
|
1411
|
+
"type": "object",
|
|
1412
|
+
"properties": {
|
|
1413
|
+
"efo_id": {
|
|
1414
|
+
"type": "string"
|
|
1415
|
+
},
|
|
1416
|
+
"efo_trait": {
|
|
1417
|
+
"type": "string"
|
|
892
1418
|
}
|
|
1419
|
+
}
|
|
1420
|
+
}
|
|
1421
|
+
},
|
|
1422
|
+
"initial_sample_size": {
|
|
1423
|
+
"type": "string",
|
|
1424
|
+
"description": "Initial sample size description"
|
|
1425
|
+
},
|
|
1426
|
+
"replication_sample_size": {
|
|
1427
|
+
"type": "string",
|
|
1428
|
+
"description": "Replication sample size"
|
|
1429
|
+
},
|
|
1430
|
+
"discovery_ancestry": {
|
|
1431
|
+
"type": "array",
|
|
1432
|
+
"items": {
|
|
1433
|
+
"type": "string"
|
|
1434
|
+
}
|
|
1435
|
+
},
|
|
1436
|
+
"replication_ancestry": {
|
|
1437
|
+
"type": "array",
|
|
1438
|
+
"items": {
|
|
1439
|
+
"type": "string"
|
|
1440
|
+
}
|
|
1441
|
+
},
|
|
1442
|
+
"cohort": {
|
|
1443
|
+
"type": "array",
|
|
1444
|
+
"items": {
|
|
1445
|
+
"type": "string"
|
|
893
1446
|
}
|
|
1447
|
+
},
|
|
1448
|
+
"genotyping_technologies": {
|
|
1449
|
+
"type": "array",
|
|
1450
|
+
"items": {
|
|
1451
|
+
"type": "string"
|
|
1452
|
+
}
|
|
1453
|
+
},
|
|
1454
|
+
"platforms": {
|
|
1455
|
+
"type": "string",
|
|
1456
|
+
"description": "Genotyping platforms used"
|
|
1457
|
+
},
|
|
1458
|
+
"snp_count": {
|
|
1459
|
+
"type": "integer",
|
|
1460
|
+
"description": "Number of SNPs analyzed"
|
|
1461
|
+
},
|
|
1462
|
+
"imputed": {
|
|
1463
|
+
"type": "boolean",
|
|
1464
|
+
"description": "Whether data was imputed"
|
|
1465
|
+
},
|
|
1466
|
+
"pooled": {
|
|
1467
|
+
"type": "boolean",
|
|
1468
|
+
"description": "Whether data was pooled"
|
|
1469
|
+
},
|
|
1470
|
+
"gxe": {
|
|
1471
|
+
"type": "boolean",
|
|
1472
|
+
"description": "Gene-environment interaction study"
|
|
1473
|
+
},
|
|
1474
|
+
"gxg": {
|
|
1475
|
+
"type": "boolean",
|
|
1476
|
+
"description": "Gene-gene interaction study"
|
|
1477
|
+
},
|
|
1478
|
+
"full_summary_stats_available": {
|
|
1479
|
+
"type": "boolean",
|
|
1480
|
+
"description": "Full summary statistics available"
|
|
1481
|
+
},
|
|
1482
|
+
"full_summary_stats": {
|
|
1483
|
+
"type": "string",
|
|
1484
|
+
"description": "URL to full summary statistics"
|
|
1485
|
+
},
|
|
1486
|
+
"pubmed_id": {
|
|
1487
|
+
"type": "string",
|
|
1488
|
+
"description": "PubMed reference"
|
|
1489
|
+
},
|
|
1490
|
+
"terms_of_license": {
|
|
1491
|
+
"type": "string",
|
|
1492
|
+
"description": "Data usage license"
|
|
1493
|
+
},
|
|
1494
|
+
"array_manufacturer": {
|
|
1495
|
+
"type": "array",
|
|
1496
|
+
"items": {
|
|
1497
|
+
"type": "string"
|
|
1498
|
+
}
|
|
1499
|
+
},
|
|
1500
|
+
"_links": {
|
|
1501
|
+
"type": "object",
|
|
1502
|
+
"description": "API links"
|
|
1503
|
+
}
|
|
894
1504
|
}
|
|
895
|
-
|
|
896
|
-
|
|
897
|
-
|
|
898
|
-
|
|
899
|
-
|
|
900
|
-
|
|
901
|
-
|
|
902
|
-
|
|
903
|
-
|
|
904
|
-
"mapped_gene": {
|
|
905
|
-
"type": "string",
|
|
906
|
-
"description": "Gene name or symbol",
|
|
907
|
-
"required": true
|
|
908
|
-
},
|
|
1505
|
+
}
|
|
1506
|
+
},
|
|
1507
|
+
"metadata": {
|
|
1508
|
+
"type": "object",
|
|
1509
|
+
"description": "Pagination and navigation metadata",
|
|
1510
|
+
"properties": {
|
|
1511
|
+
"pagination": {
|
|
1512
|
+
"type": "object",
|
|
1513
|
+
"properties": {
|
|
909
1514
|
"size": {
|
|
910
|
-
|
|
911
|
-
"description": "Number of results to return per page",
|
|
912
|
-
"required": false
|
|
1515
|
+
"type": "integer"
|
|
913
1516
|
},
|
|
914
|
-
"
|
|
915
|
-
|
|
916
|
-
|
|
917
|
-
|
|
1517
|
+
"totalElements": {
|
|
1518
|
+
"type": "integer"
|
|
1519
|
+
},
|
|
1520
|
+
"totalPages": {
|
|
1521
|
+
"type": "integer"
|
|
1522
|
+
},
|
|
1523
|
+
"number": {
|
|
1524
|
+
"type": "integer"
|
|
918
1525
|
}
|
|
1526
|
+
}
|
|
1527
|
+
},
|
|
1528
|
+
"links": {
|
|
1529
|
+
"type": "object",
|
|
1530
|
+
"description": "Navigation links"
|
|
919
1531
|
}
|
|
1532
|
+
}
|
|
1533
|
+
}
|
|
1534
|
+
}
|
|
1535
|
+
}
|
|
1536
|
+
},
|
|
1537
|
+
{
|
|
1538
|
+
"type": "GWASSNPsForGene",
|
|
1539
|
+
"name": "gwas_get_snps_for_gene",
|
|
1540
|
+
"description": "Get all SNPs mapped to a specific gene.",
|
|
1541
|
+
"parameter": {
|
|
1542
|
+
"type": "object",
|
|
1543
|
+
"properties": {
|
|
1544
|
+
"mapped_gene": {
|
|
1545
|
+
"type": "string",
|
|
1546
|
+
"description": "Gene name or symbol"
|
|
920
1547
|
},
|
|
921
|
-
"
|
|
922
|
-
|
|
923
|
-
|
|
924
|
-
|
|
925
|
-
|
|
926
|
-
|
|
927
|
-
|
|
1548
|
+
"size": {
|
|
1549
|
+
"type": "integer",
|
|
1550
|
+
"description": "Number of results to return per page"
|
|
1551
|
+
},
|
|
1552
|
+
"page": {
|
|
1553
|
+
"type": "integer",
|
|
1554
|
+
"description": "Page number for pagination"
|
|
1555
|
+
}
|
|
1556
|
+
},
|
|
1557
|
+
"required": [
|
|
1558
|
+
"mapped_gene"
|
|
1559
|
+
]
|
|
1560
|
+
},
|
|
1561
|
+
"label": [
|
|
1562
|
+
"GWAS",
|
|
1563
|
+
"SNPs",
|
|
1564
|
+
"Gene",
|
|
1565
|
+
"Mapping"
|
|
1566
|
+
],
|
|
1567
|
+
"return_schema": {
|
|
1568
|
+
"type": "object",
|
|
1569
|
+
"description": "GWAS SNPs for gene results with pagination metadata",
|
|
1570
|
+
"properties": {
|
|
1571
|
+
"data": {
|
|
1572
|
+
"type": "array",
|
|
1573
|
+
"description": "Array of SNP objects",
|
|
1574
|
+
"items": {
|
|
928
1575
|
"type": "object",
|
|
929
|
-
"description": "GWAS SNPs for gene results with pagination metadata",
|
|
930
1576
|
"properties": {
|
|
931
|
-
|
|
932
|
-
|
|
933
|
-
|
|
934
|
-
|
|
935
|
-
|
|
936
|
-
|
|
937
|
-
|
|
938
|
-
|
|
939
|
-
|
|
940
|
-
|
|
941
|
-
|
|
942
|
-
|
|
943
|
-
|
|
944
|
-
|
|
945
|
-
|
|
946
|
-
|
|
947
|
-
|
|
948
|
-
|
|
949
|
-
|
|
950
|
-
|
|
951
|
-
|
|
952
|
-
|
|
953
|
-
|
|
954
|
-
|
|
955
|
-
|
|
956
|
-
|
|
957
|
-
|
|
958
|
-
|
|
959
|
-
|
|
960
|
-
|
|
961
|
-
|
|
962
|
-
|
|
1577
|
+
"rs_id": {
|
|
1578
|
+
"type": "string",
|
|
1579
|
+
"description": "dbSNP rs identifier"
|
|
1580
|
+
},
|
|
1581
|
+
"merged": {
|
|
1582
|
+
"type": "integer",
|
|
1583
|
+
"description": "Merged status"
|
|
1584
|
+
},
|
|
1585
|
+
"functional_class": {
|
|
1586
|
+
"type": "string",
|
|
1587
|
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"description": "Functional classification"
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|
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},
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|
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"last_update_date": {
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|
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"type": "string",
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1591
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"description": "Last update timestamp"
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|
1592
|
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},
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1593
|
+
"locations": {
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"type": "array",
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"items": {
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"properties": {
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"chromosome_name": {
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"type": "string"
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},
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"region": {
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"type": "object",
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"properties": {
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"name": {
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"type": "string"
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963
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}
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}
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964
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}
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-
|
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966
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"metadata": {
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-
"type": "object",
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968
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"description": "Pagination and navigation metadata",
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"properties": {
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-
"pagination": {
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"type": "object",
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"properties": {
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"size": {"type": "integer"},
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"totalElements": {"type": "integer"},
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"totalPages": {"type": "integer"},
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"number": {"type": "integer"}
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}
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978
|
-
},
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979
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-
"links": {"type": "object", "description": "Navigation links"}
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980
|
-
}
|
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1612
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+
}
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981
1613
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}
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},
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},
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"most_severe_consequence": {
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1620
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"type": "string",
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1621
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"description": "Most severe functional consequence"
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1622
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},
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"mapped_genes": {
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1624
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"type": "array",
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1625
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"items": {
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"type": "string"
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}
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1628
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},
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1629
|
+
"maf": {
|
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1630
|
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"type": "number",
|
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1631
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"description": "Minor allele frequency"
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1632
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},
|
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1633
|
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"minor_allele": {
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|
1634
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"type": "string",
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1635
|
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"description": "Minor allele"
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1636
|
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},
|
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1637
|
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"_links": {
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1638
|
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"type": "object",
|
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1639
|
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"description": "API links"
|
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1640
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}
|
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982
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}
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983
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-
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984
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985
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-
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986
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-
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987
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-
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988
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-
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989
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-
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990
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-
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991
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-
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992
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"accession_id": {
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993
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-
"type": "string",
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994
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-
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995
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-
"required": true
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996
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-
},
|
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1642
|
+
}
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1643
|
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},
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1644
|
+
"metadata": {
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1645
|
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"type": "object",
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1646
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"description": "Pagination and navigation metadata",
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1647
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"properties": {
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1648
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"pagination": {
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1649
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"type": "object",
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1650
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"properties": {
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997
1651
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"size": {
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998
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-
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999
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-
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1000
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-
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1652
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"type": "integer"
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1653
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},
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1654
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+
"totalElements": {
|
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1655
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"type": "integer"
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1001
1656
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},
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1002
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-
"
|
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1003
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-
|
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1004
|
-
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1005
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-
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1657
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"totalPages": {
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1658
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"type": "integer"
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1659
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},
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"number": {
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1661
|
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"type": "integer"
|
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1006
1662
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}
|
|
1663
|
+
}
|
|
1664
|
+
},
|
|
1665
|
+
"links": {
|
|
1666
|
+
"type": "object",
|
|
1667
|
+
"description": "Navigation links"
|
|
1007
1668
|
}
|
|
1669
|
+
}
|
|
1670
|
+
}
|
|
1671
|
+
}
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|
1672
|
+
}
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1673
|
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},
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1674
|
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{
|
|
1675
|
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"type": "GWASAssociationsForStudy",
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|
1676
|
+
"name": "gwas_get_associations_for_study",
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1677
|
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"description": "Get all associations for a specific study, sorted by p-value.",
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|
1678
|
+
"parameter": {
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|
1679
|
+
"type": "object",
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"properties": {
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"type": "string",
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1683
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1684
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},
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1685
|
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"size": {
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1686
|
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"type": "integer",
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1687
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"description": "Number of results to return per page"
|
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1008
1688
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},
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1009
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-
"
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1010
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-
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1011
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-
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1012
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-
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1013
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-
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1014
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-
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1015
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-
"
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1689
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+
"page": {
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1690
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"type": "integer",
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1691
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}
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},
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"required": [
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]
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},
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"GWAS",
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1701
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"Study",
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1702
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"Results"
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1703
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],
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1705
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1708
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"data": {
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1709
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"type": "array",
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1710
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|
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"items": {
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1016
1712
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"type": "object",
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1017
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-
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1713
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"properties": {
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1019
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-
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1020
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-
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1021
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-
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1022
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-
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1023
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-
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1024
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-
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1025
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-
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1026
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-
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1027
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-
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1028
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-
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1029
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-
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1030
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1031
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-
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1032
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-
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1033
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-
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1034
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-
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1035
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-
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1036
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-
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1037
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-
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1038
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-
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1039
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-
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1040
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-
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1041
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-
"first_author": {"type": "string", "description": "First author name"},
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1042
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-
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1043
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-
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1044
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-
"type": "array",
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1045
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-
"items": {
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1046
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-
"type": "object",
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1047
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-
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1048
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-
"rs_id": {"type": "string"},
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1049
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-
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1050
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-
}
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1051
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-
}
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1052
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-
},
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1053
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-
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1054
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-
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1055
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-
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1056
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-
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1057
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-
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1058
|
-
"range": {"type": "string", "description": "Effect size range"},
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|
1059
|
-
"_links": {"type": "object", "description": "API links"}
|
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1060
|
-
}
|
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1714
|
+
"association_id": {
|
|
1715
|
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|
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1716
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|
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1717
|
+
},
|
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1718
|
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|
|
1719
|
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"type": "number",
|
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1720
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|
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1721
|
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},
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1722
|
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1723
|
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1724
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1725
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1726
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1727
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|
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|
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1735
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|
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1061
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}
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1062
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1063
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1064
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-
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1065
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-
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1066
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1067
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-
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1068
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-
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1069
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-
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1070
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-
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1071
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1072
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1073
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-
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1074
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1075
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-
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1076
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-
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|
1737
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+
}
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1738
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}
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1739
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},
|
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|
|
1741
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1742
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1743
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}
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1745
|
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},
|
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1746
|
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|
|
1747
|
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|
|
1748
|
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1749
|
+
},
|
|
1750
|
+
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|
|
1751
|
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|
|
1752
|
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|
1753
|
+
},
|
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1754
|
+
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|
|
1755
|
+
"type": "string",
|
|
1756
|
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|
|
1757
|
+
},
|
|
1758
|
+
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|
|
1759
|
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"type": "array",
|
|
1760
|
+
"items": {
|
|
1761
|
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"type": "string"
|
|
1762
|
+
}
|
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1763
|
+
},
|
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1764
|
+
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|
|
1765
|
+
"type": "array",
|
|
1766
|
+
"items": {
|
|
1767
|
+
"type": "object",
|
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1768
|
+
"properties": {
|
|
1769
|
+
"rs_id": {
|
|
1770
|
+
"type": "string"
|
|
1771
|
+
},
|
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1772
|
+
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|
|
1773
|
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"type": "string"
|
|
1077
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|
}
|
|
1775
|
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}
|
|
1776
|
+
}
|
|
1777
|
+
},
|
|
1778
|
+
"locations": {
|
|
1779
|
+
"type": "array",
|
|
1780
|
+
"items": {
|
|
1781
|
+
"type": "string"
|
|
1782
|
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}
|
|
1783
|
+
},
|
|
1784
|
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|
|
1785
|
+
"type": "array",
|
|
1786
|
+
"items": {
|
|
1787
|
+
"type": "string"
|
|
1788
|
+
}
|
|
1789
|
+
},
|
|
1790
|
+
"ci_lower": {
|
|
1791
|
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"type": "number",
|
|
1792
|
+
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|
|
1793
|
+
},
|
|
1794
|
+
"ci_upper": {
|
|
1795
|
+
"type": "number",
|
|
1796
|
+
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|
|
1797
|
+
},
|
|
1798
|
+
"risk_frequency": {
|
|
1799
|
+
"type": "string",
|
|
1800
|
+
"description": "Risk allele frequency"
|
|
1801
|
+
},
|
|
1802
|
+
"range": {
|
|
1803
|
+
"type": "string",
|
|
1804
|
+
"description": "Effect size range"
|
|
1805
|
+
},
|
|
1806
|
+
"_links": {
|
|
1807
|
+
"type": "object",
|
|
1808
|
+
"description": "API links"
|
|
1809
|
+
}
|
|
1810
|
+
}
|
|
1811
|
+
}
|
|
1812
|
+
},
|
|
1813
|
+
"metadata": {
|
|
1814
|
+
"type": "object",
|
|
1815
|
+
"description": "Pagination and navigation metadata",
|
|
1816
|
+
"properties": {
|
|
1817
|
+
"pagination": {
|
|
1818
|
+
"type": "object",
|
|
1819
|
+
"properties": {
|
|
1820
|
+
"size": {
|
|
1821
|
+
"type": "integer"
|
|
1822
|
+
},
|
|
1823
|
+
"totalElements": {
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|
1824
|
+
"type": "integer"
|
|
1825
|
+
},
|
|
1826
|
+
"totalPages": {
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|
1827
|
+
"type": "integer"
|
|
1828
|
+
},
|
|
1829
|
+
"number": {
|
|
1830
|
+
"type": "integer"
|
|
1078
1831
|
}
|
|
1832
|
+
}
|
|
1833
|
+
},
|
|
1834
|
+
"links": {
|
|
1835
|
+
"type": "object",
|
|
1836
|
+
"description": "Navigation links"
|
|
1079
1837
|
}
|
|
1838
|
+
}
|
|
1080
1839
|
}
|
|
1840
|
+
}
|
|
1081
1841
|
}
|
|
1842
|
+
}
|
|
1082
1843
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]
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