tooluniverse 0.1.4__py3-none-any.whl → 1.0.0__py3-none-any.whl
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- tooluniverse/__init__.py +340 -4
- tooluniverse/admetai_tool.py +84 -0
- tooluniverse/agentic_tool.py +563 -0
- tooluniverse/alphafold_tool.py +96 -0
- tooluniverse/base_tool.py +129 -6
- tooluniverse/boltz_tool.py +207 -0
- tooluniverse/chem_tool.py +192 -0
- tooluniverse/compose_scripts/__init__.py +1 -0
- tooluniverse/compose_scripts/biomarker_discovery.py +293 -0
- tooluniverse/compose_scripts/comprehensive_drug_discovery.py +186 -0
- tooluniverse/compose_scripts/drug_safety_analyzer.py +89 -0
- tooluniverse/compose_scripts/literature_tool.py +34 -0
- tooluniverse/compose_scripts/output_summarizer.py +279 -0
- tooluniverse/compose_scripts/tool_description_optimizer.py +681 -0
- tooluniverse/compose_scripts/tool_discover.py +705 -0
- tooluniverse/compose_scripts/tool_graph_composer.py +448 -0
- tooluniverse/compose_tool.py +371 -0
- tooluniverse/ctg_tool.py +1002 -0
- tooluniverse/custom_tool.py +81 -0
- tooluniverse/dailymed_tool.py +108 -0
- tooluniverse/data/admetai_tools.json +155 -0
- tooluniverse/data/agentic_tools.json +1156 -0
- tooluniverse/data/alphafold_tools.json +87 -0
- tooluniverse/data/boltz_tools.json +9 -0
- tooluniverse/data/chembl_tools.json +16 -0
- tooluniverse/data/clait_tools.json +108 -0
- tooluniverse/data/clinicaltrials_gov_tools.json +326 -0
- tooluniverse/data/compose_tools.json +202 -0
- tooluniverse/data/dailymed_tools.json +70 -0
- tooluniverse/data/dataset_tools.json +646 -0
- tooluniverse/data/disease_target_score_tools.json +712 -0
- tooluniverse/data/efo_tools.json +17 -0
- tooluniverse/data/embedding_tools.json +319 -0
- tooluniverse/data/enrichr_tools.json +31 -0
- tooluniverse/data/europe_pmc_tools.json +22 -0
- tooluniverse/data/expert_feedback_tools.json +10 -0
- tooluniverse/data/fda_drug_adverse_event_tools.json +491 -0
- tooluniverse/data/fda_drug_labeling_tools.json +544 -168
- tooluniverse/data/fda_drugs_with_brand_generic_names_for_tool.py +76929 -148860
- tooluniverse/data/finder_tools.json +209 -0
- tooluniverse/data/gene_ontology_tools.json +113 -0
- tooluniverse/data/gwas_tools.json +1082 -0
- tooluniverse/data/hpa_tools.json +333 -0
- tooluniverse/data/humanbase_tools.json +47 -0
- tooluniverse/data/idmap_tools.json +74 -0
- tooluniverse/data/mcp_client_tools_example.json +113 -0
- tooluniverse/data/mcpautoloadertool_defaults.json +28 -0
- tooluniverse/data/medlineplus_tools.json +141 -0
- tooluniverse/data/monarch_tools.json +1 -1
- tooluniverse/data/openalex_tools.json +36 -0
- tooluniverse/data/opentarget_tools.json +82 -58
- tooluniverse/data/output_summarization_tools.json +101 -0
- tooluniverse/data/packages/bioinformatics_core_tools.json +1756 -0
- tooluniverse/data/packages/categorized_tools.txt +206 -0
- tooluniverse/data/packages/cheminformatics_tools.json +347 -0
- tooluniverse/data/packages/earth_sciences_tools.json +74 -0
- tooluniverse/data/packages/genomics_tools.json +776 -0
- tooluniverse/data/packages/image_processing_tools.json +38 -0
- tooluniverse/data/packages/machine_learning_tools.json +789 -0
- tooluniverse/data/packages/neuroscience_tools.json +62 -0
- tooluniverse/data/packages/original_tools.txt +0 -0
- tooluniverse/data/packages/physics_astronomy_tools.json +62 -0
- tooluniverse/data/packages/scientific_computing_tools.json +560 -0
- tooluniverse/data/packages/single_cell_tools.json +453 -0
- tooluniverse/data/packages/software_tools.json +4954 -0
- tooluniverse/data/packages/structural_biology_tools.json +396 -0
- tooluniverse/data/packages/visualization_tools.json +399 -0
- tooluniverse/data/pubchem_tools.json +215 -0
- tooluniverse/data/pubtator_tools.json +68 -0
- tooluniverse/data/rcsb_pdb_tools.json +1332 -0
- tooluniverse/data/reactome_tools.json +19 -0
- tooluniverse/data/semantic_scholar_tools.json +26 -0
- tooluniverse/data/special_tools.json +2 -25
- tooluniverse/data/tool_composition_tools.json +88 -0
- tooluniverse/data/toolfinderkeyword_defaults.json +34 -0
- tooluniverse/data/txagent_client_tools.json +9 -0
- tooluniverse/data/uniprot_tools.json +211 -0
- tooluniverse/data/url_fetch_tools.json +94 -0
- tooluniverse/data/uspto_downloader_tools.json +9 -0
- tooluniverse/data/uspto_tools.json +811 -0
- tooluniverse/data/xml_tools.json +3275 -0
- tooluniverse/dataset_tool.py +296 -0
- tooluniverse/default_config.py +165 -0
- tooluniverse/efo_tool.py +42 -0
- tooluniverse/embedding_database.py +630 -0
- tooluniverse/embedding_sync.py +396 -0
- tooluniverse/enrichr_tool.py +266 -0
- tooluniverse/europe_pmc_tool.py +52 -0
- tooluniverse/execute_function.py +1775 -95
- tooluniverse/extended_hooks.py +444 -0
- tooluniverse/gene_ontology_tool.py +194 -0
- tooluniverse/graphql_tool.py +158 -36
- tooluniverse/gwas_tool.py +358 -0
- tooluniverse/hpa_tool.py +1645 -0
- tooluniverse/humanbase_tool.py +389 -0
- tooluniverse/logging_config.py +254 -0
- tooluniverse/mcp_client_tool.py +764 -0
- tooluniverse/mcp_integration.py +413 -0
- tooluniverse/mcp_tool_registry.py +925 -0
- tooluniverse/medlineplus_tool.py +337 -0
- tooluniverse/openalex_tool.py +228 -0
- tooluniverse/openfda_adv_tool.py +283 -0
- tooluniverse/openfda_tool.py +393 -160
- tooluniverse/output_hook.py +1122 -0
- tooluniverse/package_tool.py +195 -0
- tooluniverse/pubchem_tool.py +158 -0
- tooluniverse/pubtator_tool.py +168 -0
- tooluniverse/rcsb_pdb_tool.py +38 -0
- tooluniverse/reactome_tool.py +108 -0
- tooluniverse/remote/boltz/boltz_mcp_server.py +50 -0
- tooluniverse/remote/depmap_24q2/depmap_24q2_mcp_tool.py +442 -0
- tooluniverse/remote/expert_feedback/human_expert_mcp_tools.py +2013 -0
- tooluniverse/remote/expert_feedback/simple_test.py +23 -0
- tooluniverse/remote/expert_feedback/start_web_interface.py +188 -0
- tooluniverse/remote/expert_feedback/web_only_interface.py +0 -0
- tooluniverse/remote/expert_feedback_mcp/human_expert_mcp_server.py +1611 -0
- tooluniverse/remote/expert_feedback_mcp/simple_test.py +34 -0
- tooluniverse/remote/expert_feedback_mcp/start_web_interface.py +91 -0
- tooluniverse/remote/immune_compass/compass_tool.py +327 -0
- tooluniverse/remote/pinnacle/pinnacle_tool.py +328 -0
- tooluniverse/remote/transcriptformer/transcriptformer_tool.py +586 -0
- tooluniverse/remote/uspto_downloader/uspto_downloader_mcp_server.py +61 -0
- tooluniverse/remote/uspto_downloader/uspto_downloader_tool.py +120 -0
- tooluniverse/remote_tool.py +99 -0
- tooluniverse/restful_tool.py +53 -30
- tooluniverse/scripts/generate_tool_graph.py +408 -0
- tooluniverse/scripts/visualize_tool_graph.py +829 -0
- tooluniverse/semantic_scholar_tool.py +62 -0
- tooluniverse/smcp.py +2452 -0
- tooluniverse/smcp_server.py +975 -0
- tooluniverse/test/mcp_server_test.py +0 -0
- tooluniverse/test/test_admetai_tool.py +370 -0
- tooluniverse/test/test_agentic_tool.py +129 -0
- tooluniverse/test/test_alphafold_tool.py +71 -0
- tooluniverse/test/test_chem_tool.py +37 -0
- tooluniverse/test/test_compose_lieraturereview.py +63 -0
- tooluniverse/test/test_compose_tool.py +448 -0
- tooluniverse/test/test_dailymed.py +69 -0
- tooluniverse/test/test_dataset_tool.py +200 -0
- tooluniverse/test/test_disease_target_score.py +56 -0
- tooluniverse/test/test_drugbank_filter_examples.py +179 -0
- tooluniverse/test/test_efo.py +31 -0
- tooluniverse/test/test_enrichr_tool.py +21 -0
- tooluniverse/test/test_europe_pmc_tool.py +20 -0
- tooluniverse/test/test_fda_adv.py +95 -0
- tooluniverse/test/test_fda_drug_labeling.py +91 -0
- tooluniverse/test/test_gene_ontology_tools.py +66 -0
- tooluniverse/test/test_gwas_tool.py +139 -0
- tooluniverse/test/test_hpa.py +625 -0
- tooluniverse/test/test_humanbase_tool.py +20 -0
- tooluniverse/test/test_idmap_tools.py +61 -0
- tooluniverse/test/test_mcp_server.py +211 -0
- tooluniverse/test/test_mcp_tool.py +247 -0
- tooluniverse/test/test_medlineplus.py +220 -0
- tooluniverse/test/test_openalex_tool.py +32 -0
- tooluniverse/test/test_opentargets.py +28 -0
- tooluniverse/test/test_pubchem_tool.py +116 -0
- tooluniverse/test/test_pubtator_tool.py +37 -0
- tooluniverse/test/test_rcsb_pdb_tool.py +86 -0
- tooluniverse/test/test_reactome.py +54 -0
- tooluniverse/test/test_semantic_scholar_tool.py +24 -0
- tooluniverse/test/test_software_tools.py +147 -0
- tooluniverse/test/test_tool_description_optimizer.py +49 -0
- tooluniverse/test/test_tool_finder.py +26 -0
- tooluniverse/test/test_tool_finder_llm.py +252 -0
- tooluniverse/test/test_tools_find.py +195 -0
- tooluniverse/test/test_uniprot_tools.py +74 -0
- tooluniverse/test/test_uspto_tool.py +72 -0
- tooluniverse/test/test_xml_tool.py +113 -0
- tooluniverse/tool_finder_embedding.py +267 -0
- tooluniverse/tool_finder_keyword.py +693 -0
- tooluniverse/tool_finder_llm.py +699 -0
- tooluniverse/tool_graph_web_ui.py +955 -0
- tooluniverse/tool_registry.py +416 -0
- tooluniverse/uniprot_tool.py +155 -0
- tooluniverse/url_tool.py +253 -0
- tooluniverse/uspto_tool.py +240 -0
- tooluniverse/utils.py +369 -41
- tooluniverse/xml_tool.py +369 -0
- tooluniverse-1.0.0.dist-info/METADATA +377 -0
- tooluniverse-1.0.0.dist-info/RECORD +186 -0
- {tooluniverse-0.1.4.dist-info → tooluniverse-1.0.0.dist-info}/WHEEL +1 -1
- tooluniverse-1.0.0.dist-info/entry_points.txt +9 -0
- tooluniverse-0.1.4.dist-info/METADATA +0 -141
- tooluniverse-0.1.4.dist-info/RECORD +0 -18
- {tooluniverse-0.1.4.dist-info → tooluniverse-1.0.0.dist-info}/licenses/LICENSE +0 -0
- {tooluniverse-0.1.4.dist-info → tooluniverse-1.0.0.dist-info}/top_level.txt +0 -0
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{
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"type": "GWASAssociationSearch",
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"name": "gwas_search_associations",
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"description": "Search for GWAS associations by various criteria including EFO trait, rs ID, accession ID, with sorting and pagination support.",
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"efo_trait": {
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"description": "EFO trait identifier or name",
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"rs_id": {
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"description": "dbSNP rs identifier",
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"accession_id": {
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"type": "string",
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"description": "Study accession identifier",
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"sort": {
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"description": "Sort field (e.g., 'p_value', 'or_value')",
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"direction": {
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"description": "Sort direction ('asc' or 'desc')",
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"label": [
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"return_schema": {
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"description": "GWAS associations search results with pagination metadata",
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"association_id": {"type": "integer", "description": "Unique association identifier"},
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"p_value": {"type": "number", "description": "Statistical p-value"},
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"beta": {"type": "string", "description": "Effect size (beta coefficient)"},
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"label": [
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"return_schema": {
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"description": "GWAS studies search results with pagination metadata",
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"data": {
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|
174
|
+
"type": "array",
|
|
175
|
+
"description": "Array of GWAS study objects",
|
|
176
|
+
"items": {
|
|
177
|
+
"type": "object",
|
|
178
|
+
"properties": {
|
|
179
|
+
"accession_id": {"type": "string", "description": "Study accession identifier"},
|
|
180
|
+
"disease_trait": {"type": "string", "description": "Disease or trait name"},
|
|
181
|
+
"efo_traits": {
|
|
182
|
+
"type": "array",
|
|
183
|
+
"items": {
|
|
184
|
+
"type": "object",
|
|
185
|
+
"properties": {
|
|
186
|
+
"efo_id": {"type": "string"},
|
|
187
|
+
"efo_trait": {"type": "string"}
|
|
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"}
|
|
226
|
+
}
|
|
227
|
+
}
|
|
228
|
+
}
|
|
229
|
+
}
|
|
230
|
+
},
|
|
231
|
+
{
|
|
232
|
+
"type": "GWASSNPSearch",
|
|
233
|
+
"name": "gwas_search_snps",
|
|
234
|
+
"description": "Search for GWAS single nucleotide polymorphisms (SNPs) by rs ID or mapped gene.",
|
|
235
|
+
"parameter": {
|
|
236
|
+
"type": "object",
|
|
237
|
+
"properties": {
|
|
238
|
+
"rs_id": {
|
|
239
|
+
"type": "string",
|
|
240
|
+
"description": "dbSNP rs identifier",
|
|
241
|
+
"required": false
|
|
242
|
+
},
|
|
243
|
+
"mapped_gene": {
|
|
244
|
+
"type": "string",
|
|
245
|
+
"description": "Gene name or symbol",
|
|
246
|
+
"required": false
|
|
247
|
+
},
|
|
248
|
+
"size": {
|
|
249
|
+
"type": "integer",
|
|
250
|
+
"description": "Number of results to return",
|
|
251
|
+
"required": false
|
|
252
|
+
},
|
|
253
|
+
"page": {
|
|
254
|
+
"type": "integer",
|
|
255
|
+
"description": "Page number for pagination",
|
|
256
|
+
"required": false
|
|
257
|
+
}
|
|
258
|
+
}
|
|
259
|
+
},
|
|
260
|
+
"label": [
|
|
261
|
+
"GWAS",
|
|
262
|
+
"SNP",
|
|
263
|
+
"Variant",
|
|
264
|
+
"Search"
|
|
265
|
+
],
|
|
266
|
+
"return_schema": {
|
|
267
|
+
"type": "object",
|
|
268
|
+
"description": "GWAS SNPs search results with pagination metadata",
|
|
269
|
+
"properties": {
|
|
270
|
+
"data": {
|
|
271
|
+
"type": "array",
|
|
272
|
+
"description": "Array of SNP objects",
|
|
273
|
+
"items": {
|
|
274
|
+
"type": "object",
|
|
275
|
+
"properties": {
|
|
276
|
+
"rs_id": {"type": "string", "description": "dbSNP rs identifier"},
|
|
277
|
+
"merged": {"type": "integer", "description": "Merged status"},
|
|
278
|
+
"functional_class": {"type": "string", "description": "Functional classification"},
|
|
279
|
+
"last_update_date": {"type": "string", "description": "Last update timestamp"},
|
|
280
|
+
"locations": {
|
|
281
|
+
"type": "array",
|
|
282
|
+
"items": {
|
|
283
|
+
"type": "object",
|
|
284
|
+
"properties": {
|
|
285
|
+
"chromosome_name": {"type": "string"},
|
|
286
|
+
"chromosome_position": {"type": "integer"},
|
|
287
|
+
"region": {
|
|
288
|
+
"type": "object",
|
|
289
|
+
"properties": {
|
|
290
|
+
"name": {"type": "string"}
|
|
291
|
+
}
|
|
292
|
+
}
|
|
293
|
+
}
|
|
294
|
+
}
|
|
295
|
+
},
|
|
296
|
+
"alleles": {"type": "string", "description": "Allele information"},
|
|
297
|
+
"most_severe_consequence": {"type": "string", "description": "Most severe functional consequence"},
|
|
298
|
+
"mapped_genes": {"type": "array", "items": {"type": "string"}},
|
|
299
|
+
"maf": {"type": "number", "description": "Minor allele frequency"},
|
|
300
|
+
"minor_allele": {"type": "string", "description": "Minor allele"},
|
|
301
|
+
"_links": {"type": "object", "description": "API links"}
|
|
302
|
+
}
|
|
303
|
+
}
|
|
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
|
+
}
|
|
320
|
+
}
|
|
321
|
+
}
|
|
322
|
+
}
|
|
323
|
+
},
|
|
324
|
+
{
|
|
325
|
+
"type": "GWASAssociationByID",
|
|
326
|
+
"name": "gwas_get_association_by_id",
|
|
327
|
+
"description": "Get a specific GWAS association by its unique identifier.",
|
|
328
|
+
"parameter": {
|
|
329
|
+
"type": "object",
|
|
330
|
+
"properties": {
|
|
331
|
+
"association_id": {
|
|
332
|
+
"type": "string",
|
|
333
|
+
"description": "GWAS association identifier",
|
|
334
|
+
"required": true
|
|
335
|
+
}
|
|
336
|
+
}
|
|
337
|
+
},
|
|
338
|
+
"label": [
|
|
339
|
+
"GWAS",
|
|
340
|
+
"Association",
|
|
341
|
+
"Lookup"
|
|
342
|
+
],
|
|
343
|
+
"return_schema": {
|
|
344
|
+
"type": "object",
|
|
345
|
+
"description": "Single GWAS association object",
|
|
346
|
+
"properties": {
|
|
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
|
+
}
|
|
359
|
+
},
|
|
360
|
+
"reported_trait": {"type": "array", "items": {"type": "string"}},
|
|
361
|
+
"accession_id": {"type": "string", "description": "Study accession ID"},
|
|
362
|
+
"pubmed_id": {"type": "string", "description": "PubMed reference"},
|
|
363
|
+
"first_author": {"type": "string", "description": "First author name"},
|
|
364
|
+
"snp_effect_allele": {"type": "array", "items": {"type": "string"}},
|
|
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
|
+
}
|
|
374
|
+
},
|
|
375
|
+
"locations": {"type": "array", "items": {"type": "string"}},
|
|
376
|
+
"mapped_genes": {"type": "array", "items": {"type": "string"}},
|
|
377
|
+
"ci_lower": {"type": "number", "description": "Lower confidence interval"},
|
|
378
|
+
"ci_upper": {"type": "number", "description": "Upper confidence interval"},
|
|
379
|
+
"risk_frequency": {"type": "string", "description": "Risk allele frequency"},
|
|
380
|
+
"range": {"type": "string", "description": "Effect size range"},
|
|
381
|
+
"_links": {"type": "object", "description": "API links"}
|
|
382
|
+
}
|
|
383
|
+
}
|
|
384
|
+
},
|
|
385
|
+
{
|
|
386
|
+
"type": "GWASStudyByID",
|
|
387
|
+
"name": "gwas_get_study_by_id",
|
|
388
|
+
"description": "Get a specific GWAS study by its unique identifier.",
|
|
389
|
+
"parameter": {
|
|
390
|
+
"type": "object",
|
|
391
|
+
"properties": {
|
|
392
|
+
"study_id": {
|
|
393
|
+
"type": "string",
|
|
394
|
+
"description": "GWAS study identifier",
|
|
395
|
+
"required": true
|
|
396
|
+
}
|
|
397
|
+
}
|
|
398
|
+
},
|
|
399
|
+
"label": [
|
|
400
|
+
"GWAS",
|
|
401
|
+
"Study",
|
|
402
|
+
"Lookup"
|
|
403
|
+
],
|
|
404
|
+
"return_schema": {
|
|
405
|
+
"type": "object",
|
|
406
|
+
"description": "Single GWAS study object",
|
|
407
|
+
"properties": {
|
|
408
|
+
"accession_id": {"type": "string", "description": "Study accession identifier"},
|
|
409
|
+
"disease_trait": {"type": "string", "description": "Disease or trait name"},
|
|
410
|
+
"efo_traits": {
|
|
411
|
+
"type": "array",
|
|
412
|
+
"items": {
|
|
413
|
+
"type": "object",
|
|
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"}
|
|
438
|
+
}
|
|
439
|
+
}
|
|
440
|
+
},
|
|
441
|
+
{
|
|
442
|
+
"type": "GWASSNPByID",
|
|
443
|
+
"name": "gwas_get_snp_by_id",
|
|
444
|
+
"description": "Get a specific GWAS SNP by its rs ID.",
|
|
445
|
+
"parameter": {
|
|
446
|
+
"type": "object",
|
|
447
|
+
"properties": {
|
|
448
|
+
"rs_id": {
|
|
449
|
+
"type": "string",
|
|
450
|
+
"description": "dbSNP rs identifier",
|
|
451
|
+
"required": true
|
|
452
|
+
}
|
|
453
|
+
}
|
|
454
|
+
},
|
|
455
|
+
"label": [
|
|
456
|
+
"GWAS",
|
|
457
|
+
"SNP",
|
|
458
|
+
"Lookup"
|
|
459
|
+
],
|
|
460
|
+
"return_schema": {
|
|
461
|
+
"type": "object",
|
|
462
|
+
"description": "Single SNP object",
|
|
463
|
+
"properties": {
|
|
464
|
+
"rs_id": {"type": "string", "description": "dbSNP rs identifier"},
|
|
465
|
+
"merged": {"type": "integer", "description": "Merged status"},
|
|
466
|
+
"functional_class": {"type": "string", "description": "Functional classification"},
|
|
467
|
+
"last_update_date": {"type": "string", "description": "Last update timestamp"},
|
|
468
|
+
"locations": {
|
|
469
|
+
"type": "array",
|
|
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"}
|
|
490
|
+
}
|
|
491
|
+
}
|
|
492
|
+
},
|
|
493
|
+
{
|
|
494
|
+
"type": "GWASVariantsForTrait",
|
|
495
|
+
"name": "gwas_get_variants_for_trait",
|
|
496
|
+
"description": "Get all variants associated with a specific trait with pagination support.",
|
|
497
|
+
"parameter": {
|
|
498
|
+
"type": "object",
|
|
499
|
+
"properties": {
|
|
500
|
+
"efo_trait": {
|
|
501
|
+
"type": "string",
|
|
502
|
+
"description": "EFO trait identifier or name",
|
|
503
|
+
"required": true
|
|
504
|
+
},
|
|
505
|
+
"size": {
|
|
506
|
+
"type": "integer",
|
|
507
|
+
"description": "Number of results to return per page",
|
|
508
|
+
"required": false
|
|
509
|
+
},
|
|
510
|
+
"page": {
|
|
511
|
+
"type": "integer",
|
|
512
|
+
"description": "Page number for pagination",
|
|
513
|
+
"required": false
|
|
514
|
+
}
|
|
515
|
+
}
|
|
516
|
+
},
|
|
517
|
+
"label": [
|
|
518
|
+
"GWAS",
|
|
519
|
+
"Variants",
|
|
520
|
+
"Trait",
|
|
521
|
+
"Genetics"
|
|
522
|
+
],
|
|
523
|
+
"return_schema": {
|
|
524
|
+
"type": "object",
|
|
525
|
+
"description": "GWAS variants for trait results with pagination metadata",
|
|
526
|
+
"properties": {
|
|
527
|
+
"data": {
|
|
528
|
+
"type": "array",
|
|
529
|
+
"description": "Array of variant objects",
|
|
530
|
+
"items": {
|
|
531
|
+
"type": "object",
|
|
532
|
+
"properties": {
|
|
533
|
+
"rs_id": {"type": "string", "description": "dbSNP rs identifier"},
|
|
534
|
+
"merged": {"type": "integer", "description": "Merged status"},
|
|
535
|
+
"functional_class": {"type": "string", "description": "Functional classification"},
|
|
536
|
+
"last_update_date": {"type": "string", "description": "Last update timestamp"},
|
|
537
|
+
"locations": {
|
|
538
|
+
"type": "array",
|
|
539
|
+
"items": {
|
|
540
|
+
"type": "object",
|
|
541
|
+
"properties": {
|
|
542
|
+
"chromosome_name": {"type": "string"},
|
|
543
|
+
"chromosome_position": {"type": "integer"},
|
|
544
|
+
"region": {
|
|
545
|
+
"type": "object",
|
|
546
|
+
"properties": {
|
|
547
|
+
"name": {"type": "string"}
|
|
548
|
+
}
|
|
549
|
+
}
|
|
550
|
+
}
|
|
551
|
+
}
|
|
552
|
+
},
|
|
553
|
+
"alleles": {"type": "string", "description": "Allele information"},
|
|
554
|
+
"most_severe_consequence": {"type": "string", "description": "Most severe functional consequence"},
|
|
555
|
+
"mapped_genes": {"type": "array", "items": {"type": "string"}},
|
|
556
|
+
"maf": {"type": "number", "description": "Minor allele frequency"},
|
|
557
|
+
"minor_allele": {"type": "string", "description": "Minor allele"},
|
|
558
|
+
"_links": {"type": "object", "description": "API links"}
|
|
559
|
+
}
|
|
560
|
+
}
|
|
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
|
+
}
|
|
577
|
+
}
|
|
578
|
+
}
|
|
579
|
+
}
|
|
580
|
+
},
|
|
581
|
+
{
|
|
582
|
+
"type": "GWASAssociationsForTrait",
|
|
583
|
+
"name": "gwas_get_associations_for_trait",
|
|
584
|
+
"description": "Get all associations for a specific trait, sorted by p-value (most significant first).",
|
|
585
|
+
"parameter": {
|
|
586
|
+
"type": "object",
|
|
587
|
+
"properties": {
|
|
588
|
+
"efo_trait": {
|
|
589
|
+
"type": "string",
|
|
590
|
+
"description": "EFO trait identifier or name",
|
|
591
|
+
"required": true
|
|
592
|
+
},
|
|
593
|
+
"size": {
|
|
594
|
+
"type": "integer",
|
|
595
|
+
"description": "Number of results to return per page",
|
|
596
|
+
"required": false
|
|
597
|
+
},
|
|
598
|
+
"page": {
|
|
599
|
+
"type": "integer",
|
|
600
|
+
"description": "Page number for pagination",
|
|
601
|
+
"required": false
|
|
602
|
+
}
|
|
603
|
+
}
|
|
604
|
+
},
|
|
605
|
+
"label": [
|
|
606
|
+
"GWAS",
|
|
607
|
+
"Associations",
|
|
608
|
+
"Trait",
|
|
609
|
+
"Significance"
|
|
610
|
+
],
|
|
611
|
+
"return_schema": {
|
|
612
|
+
"type": "object",
|
|
613
|
+
"description": "GWAS associations for trait results with pagination metadata",
|
|
614
|
+
"properties": {
|
|
615
|
+
"data": {
|
|
616
|
+
"type": "array",
|
|
617
|
+
"description": "Array of GWAS association objects",
|
|
618
|
+
"items": {
|
|
619
|
+
"type": "object",
|
|
620
|
+
"properties": {
|
|
621
|
+
"association_id": {"type": "integer", "description": "Unique association identifier"},
|
|
622
|
+
"p_value": {"type": "number", "description": "Statistical p-value"},
|
|
623
|
+
"beta": {"type": "string", "description": "Effect size (beta coefficient)"},
|
|
624
|
+
"efo_traits": {
|
|
625
|
+
"type": "array",
|
|
626
|
+
"items": {
|
|
627
|
+
"type": "object",
|
|
628
|
+
"properties": {
|
|
629
|
+
"efo_id": {"type": "string"},
|
|
630
|
+
"efo_trait": {"type": "string"}
|
|
631
|
+
}
|
|
632
|
+
}
|
|
633
|
+
},
|
|
634
|
+
"reported_trait": {"type": "array", "items": {"type": "string"}},
|
|
635
|
+
"accession_id": {"type": "string", "description": "Study accession ID"},
|
|
636
|
+
"pubmed_id": {"type": "string", "description": "PubMed reference"},
|
|
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
|
+
}
|
|
657
|
+
}
|
|
658
|
+
},
|
|
659
|
+
"metadata": {
|
|
660
|
+
"type": "object",
|
|
661
|
+
"description": "Pagination and navigation metadata",
|
|
662
|
+
"properties": {
|
|
663
|
+
"pagination": {
|
|
664
|
+
"type": "object",
|
|
665
|
+
"properties": {
|
|
666
|
+
"size": {"type": "integer"},
|
|
667
|
+
"totalElements": {"type": "integer"},
|
|
668
|
+
"totalPages": {"type": "integer"},
|
|
669
|
+
"number": {"type": "integer"}
|
|
670
|
+
}
|
|
671
|
+
},
|
|
672
|
+
"links": {"type": "object", "description": "Navigation links"}
|
|
673
|
+
}
|
|
674
|
+
}
|
|
675
|
+
}
|
|
676
|
+
}
|
|
677
|
+
},
|
|
678
|
+
{
|
|
679
|
+
"type": "GWASAssociationsForSNP",
|
|
680
|
+
"name": "gwas_get_associations_for_snp",
|
|
681
|
+
"description": "Get all associations for a specific SNP with optional sorting.",
|
|
682
|
+
"parameter": {
|
|
683
|
+
"type": "object",
|
|
684
|
+
"properties": {
|
|
685
|
+
"rs_id": {
|
|
686
|
+
"type": "string",
|
|
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
|
|
694
|
+
},
|
|
695
|
+
"direction": {
|
|
696
|
+
"type": "string",
|
|
697
|
+
"description": "Sort direction ('asc' or 'desc')",
|
|
698
|
+
"required": false
|
|
699
|
+
},
|
|
700
|
+
"size": {
|
|
701
|
+
"type": "integer",
|
|
702
|
+
"description": "Number of results to return per page",
|
|
703
|
+
"required": false
|
|
704
|
+
},
|
|
705
|
+
"page": {
|
|
706
|
+
"type": "integer",
|
|
707
|
+
"description": "Page number for pagination",
|
|
708
|
+
"required": false
|
|
709
|
+
}
|
|
710
|
+
}
|
|
711
|
+
},
|
|
712
|
+
"label": [
|
|
713
|
+
"GWAS",
|
|
714
|
+
"Associations",
|
|
715
|
+
"SNP",
|
|
716
|
+
"Traits"
|
|
717
|
+
],
|
|
718
|
+
"return_schema": {
|
|
719
|
+
"type": "object",
|
|
720
|
+
"description": "GWAS associations for SNP results with pagination metadata",
|
|
721
|
+
"properties": {
|
|
722
|
+
"data": {
|
|
723
|
+
"type": "array",
|
|
724
|
+
"description": "Array of GWAS association objects",
|
|
725
|
+
"items": {
|
|
726
|
+
"type": "object",
|
|
727
|
+
"properties": {
|
|
728
|
+
"association_id": {"type": "integer", "description": "Unique association identifier"},
|
|
729
|
+
"p_value": {"type": "number", "description": "Statistical p-value"},
|
|
730
|
+
"beta": {"type": "string", "description": "Effect size (beta coefficient)"},
|
|
731
|
+
"efo_traits": {
|
|
732
|
+
"type": "array",
|
|
733
|
+
"items": {
|
|
734
|
+
"type": "object",
|
|
735
|
+
"properties": {
|
|
736
|
+
"efo_id": {"type": "string"},
|
|
737
|
+
"efo_trait": {"type": "string"}
|
|
738
|
+
}
|
|
739
|
+
}
|
|
740
|
+
},
|
|
741
|
+
"reported_trait": {"type": "array", "items": {"type": "string"}},
|
|
742
|
+
"accession_id": {"type": "string", "description": "Study accession ID"},
|
|
743
|
+
"pubmed_id": {"type": "string", "description": "PubMed reference"},
|
|
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
|
+
}
|
|
764
|
+
}
|
|
765
|
+
},
|
|
766
|
+
"metadata": {
|
|
767
|
+
"type": "object",
|
|
768
|
+
"description": "Pagination and navigation metadata",
|
|
769
|
+
"properties": {
|
|
770
|
+
"pagination": {
|
|
771
|
+
"type": "object",
|
|
772
|
+
"properties": {
|
|
773
|
+
"size": {"type": "integer"},
|
|
774
|
+
"totalElements": {"type": "integer"},
|
|
775
|
+
"totalPages": {"type": "integer"},
|
|
776
|
+
"number": {"type": "integer"}
|
|
777
|
+
}
|
|
778
|
+
},
|
|
779
|
+
"links": {"type": "object", "description": "Navigation links"}
|
|
780
|
+
}
|
|
781
|
+
}
|
|
782
|
+
}
|
|
783
|
+
}
|
|
784
|
+
},
|
|
785
|
+
{
|
|
786
|
+
"type": "GWASStudiesForTrait",
|
|
787
|
+
"name": "gwas_get_studies_for_trait",
|
|
788
|
+
"description": "Get studies for a specific trait with optional filters for cohort, GxE interactions, and summary statistics.",
|
|
789
|
+
"parameter": {
|
|
790
|
+
"type": "object",
|
|
791
|
+
"properties": {
|
|
792
|
+
"efo_trait": {
|
|
793
|
+
"type": "string",
|
|
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
|
|
806
|
+
},
|
|
807
|
+
"gxe": {
|
|
808
|
+
"type": "boolean",
|
|
809
|
+
"description": "Filter for Gene-by-Environment interaction studies",
|
|
810
|
+
"required": false
|
|
811
|
+
},
|
|
812
|
+
"full_pvalue_set": {
|
|
813
|
+
"type": "boolean",
|
|
814
|
+
"description": "Filter for studies with full summary statistics",
|
|
815
|
+
"required": false
|
|
816
|
+
},
|
|
817
|
+
"size": {
|
|
818
|
+
"type": "integer",
|
|
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
|
|
826
|
+
}
|
|
827
|
+
}
|
|
828
|
+
},
|
|
829
|
+
"label": [
|
|
830
|
+
"GWAS",
|
|
831
|
+
"Studies",
|
|
832
|
+
"Trait",
|
|
833
|
+
"Research"
|
|
834
|
+
],
|
|
835
|
+
"return_schema": {
|
|
836
|
+
"type": "object",
|
|
837
|
+
"description": "GWAS studies for trait results with pagination metadata",
|
|
838
|
+
"properties": {
|
|
839
|
+
"data": {
|
|
840
|
+
"type": "array",
|
|
841
|
+
"description": "Array of GWAS study objects",
|
|
842
|
+
"items": {
|
|
843
|
+
"type": "object",
|
|
844
|
+
"properties": {
|
|
845
|
+
"accession_id": {"type": "string", "description": "Study accession identifier"},
|
|
846
|
+
"disease_trait": {"type": "string", "description": "Disease or trait name"},
|
|
847
|
+
"efo_traits": {
|
|
848
|
+
"type": "array",
|
|
849
|
+
"items": {
|
|
850
|
+
"type": "object",
|
|
851
|
+
"properties": {
|
|
852
|
+
"efo_id": {"type": "string"},
|
|
853
|
+
"efo_trait": {"type": "string"}
|
|
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"}
|
|
892
|
+
}
|
|
893
|
+
}
|
|
894
|
+
}
|
|
895
|
+
}
|
|
896
|
+
},
|
|
897
|
+
{
|
|
898
|
+
"type": "GWASSNPsForGene",
|
|
899
|
+
"name": "gwas_get_snps_for_gene",
|
|
900
|
+
"description": "Get all SNPs mapped to a specific gene.",
|
|
901
|
+
"parameter": {
|
|
902
|
+
"type": "object",
|
|
903
|
+
"properties": {
|
|
904
|
+
"mapped_gene": {
|
|
905
|
+
"type": "string",
|
|
906
|
+
"description": "Gene name or symbol",
|
|
907
|
+
"required": true
|
|
908
|
+
},
|
|
909
|
+
"size": {
|
|
910
|
+
"type": "integer",
|
|
911
|
+
"description": "Number of results to return per page",
|
|
912
|
+
"required": false
|
|
913
|
+
},
|
|
914
|
+
"page": {
|
|
915
|
+
"type": "integer",
|
|
916
|
+
"description": "Page number for pagination",
|
|
917
|
+
"required": false
|
|
918
|
+
}
|
|
919
|
+
}
|
|
920
|
+
},
|
|
921
|
+
"label": [
|
|
922
|
+
"GWAS",
|
|
923
|
+
"SNPs",
|
|
924
|
+
"Gene",
|
|
925
|
+
"Mapping"
|
|
926
|
+
],
|
|
927
|
+
"return_schema": {
|
|
928
|
+
"type": "object",
|
|
929
|
+
"description": "GWAS SNPs for gene results with pagination metadata",
|
|
930
|
+
"properties": {
|
|
931
|
+
"data": {
|
|
932
|
+
"type": "array",
|
|
933
|
+
"description": "Array of SNP objects",
|
|
934
|
+
"items": {
|
|
935
|
+
"type": "object",
|
|
936
|
+
"properties": {
|
|
937
|
+
"rs_id": {"type": "string", "description": "dbSNP rs identifier"},
|
|
938
|
+
"merged": {"type": "integer", "description": "Merged status"},
|
|
939
|
+
"functional_class": {"type": "string", "description": "Functional classification"},
|
|
940
|
+
"last_update_date": {"type": "string", "description": "Last update timestamp"},
|
|
941
|
+
"locations": {
|
|
942
|
+
"type": "array",
|
|
943
|
+
"items": {
|
|
944
|
+
"type": "object",
|
|
945
|
+
"properties": {
|
|
946
|
+
"chromosome_name": {"type": "string"},
|
|
947
|
+
"chromosome_position": {"type": "integer"},
|
|
948
|
+
"region": {
|
|
949
|
+
"type": "object",
|
|
950
|
+
"properties": {
|
|
951
|
+
"name": {"type": "string"}
|
|
952
|
+
}
|
|
953
|
+
}
|
|
954
|
+
}
|
|
955
|
+
}
|
|
956
|
+
},
|
|
957
|
+
"alleles": {"type": "string", "description": "Allele information"},
|
|
958
|
+
"most_severe_consequence": {"type": "string", "description": "Most severe functional consequence"},
|
|
959
|
+
"mapped_genes": {"type": "array", "items": {"type": "string"}},
|
|
960
|
+
"maf": {"type": "number", "description": "Minor allele frequency"},
|
|
961
|
+
"minor_allele": {"type": "string", "description": "Minor allele"},
|
|
962
|
+
"_links": {"type": "object", "description": "API links"}
|
|
963
|
+
}
|
|
964
|
+
}
|
|
965
|
+
},
|
|
966
|
+
"metadata": {
|
|
967
|
+
"type": "object",
|
|
968
|
+
"description": "Pagination and navigation metadata",
|
|
969
|
+
"properties": {
|
|
970
|
+
"pagination": {
|
|
971
|
+
"type": "object",
|
|
972
|
+
"properties": {
|
|
973
|
+
"size": {"type": "integer"},
|
|
974
|
+
"totalElements": {"type": "integer"},
|
|
975
|
+
"totalPages": {"type": "integer"},
|
|
976
|
+
"number": {"type": "integer"}
|
|
977
|
+
}
|
|
978
|
+
},
|
|
979
|
+
"links": {"type": "object", "description": "Navigation links"}
|
|
980
|
+
}
|
|
981
|
+
}
|
|
982
|
+
}
|
|
983
|
+
}
|
|
984
|
+
},
|
|
985
|
+
{
|
|
986
|
+
"type": "GWASAssociationsForStudy",
|
|
987
|
+
"name": "gwas_get_associations_for_study",
|
|
988
|
+
"description": "Get all associations for a specific study, sorted by p-value.",
|
|
989
|
+
"parameter": {
|
|
990
|
+
"type": "object",
|
|
991
|
+
"properties": {
|
|
992
|
+
"accession_id": {
|
|
993
|
+
"type": "string",
|
|
994
|
+
"description": "Study accession identifier",
|
|
995
|
+
"required": true
|
|
996
|
+
},
|
|
997
|
+
"size": {
|
|
998
|
+
"type": "integer",
|
|
999
|
+
"description": "Number of results to return per page",
|
|
1000
|
+
"required": false
|
|
1001
|
+
},
|
|
1002
|
+
"page": {
|
|
1003
|
+
"type": "integer",
|
|
1004
|
+
"description": "Page number for pagination",
|
|
1005
|
+
"required": false
|
|
1006
|
+
}
|
|
1007
|
+
}
|
|
1008
|
+
},
|
|
1009
|
+
"label": [
|
|
1010
|
+
"GWAS",
|
|
1011
|
+
"Associations",
|
|
1012
|
+
"Study",
|
|
1013
|
+
"Results"
|
|
1014
|
+
],
|
|
1015
|
+
"return_schema": {
|
|
1016
|
+
"type": "object",
|
|
1017
|
+
"description": "GWAS associations for study results with pagination metadata",
|
|
1018
|
+
"properties": {
|
|
1019
|
+
"data": {
|
|
1020
|
+
"type": "array",
|
|
1021
|
+
"description": "Array of GWAS association objects",
|
|
1022
|
+
"items": {
|
|
1023
|
+
"type": "object",
|
|
1024
|
+
"properties": {
|
|
1025
|
+
"association_id": {"type": "integer", "description": "Unique association identifier"},
|
|
1026
|
+
"p_value": {"type": "number", "description": "Statistical p-value"},
|
|
1027
|
+
"beta": {"type": "string", "description": "Effect size (beta coefficient)"},
|
|
1028
|
+
"efo_traits": {
|
|
1029
|
+
"type": "array",
|
|
1030
|
+
"items": {
|
|
1031
|
+
"type": "object",
|
|
1032
|
+
"properties": {
|
|
1033
|
+
"efo_id": {"type": "string"},
|
|
1034
|
+
"efo_trait": {"type": "string"}
|
|
1035
|
+
}
|
|
1036
|
+
}
|
|
1037
|
+
},
|
|
1038
|
+
"reported_trait": {"type": "array", "items": {"type": "string"}},
|
|
1039
|
+
"accession_id": {"type": "string", "description": "Study accession ID"},
|
|
1040
|
+
"pubmed_id": {"type": "string", "description": "PubMed reference"},
|
|
1041
|
+
"first_author": {"type": "string", "description": "First author name"},
|
|
1042
|
+
"snp_effect_allele": {"type": "array", "items": {"type": "string"}},
|
|
1043
|
+
"snp_allele": {
|
|
1044
|
+
"type": "array",
|
|
1045
|
+
"items": {
|
|
1046
|
+
"type": "object",
|
|
1047
|
+
"properties": {
|
|
1048
|
+
"rs_id": {"type": "string"},
|
|
1049
|
+
"effect_allele": {"type": "string"}
|
|
1050
|
+
}
|
|
1051
|
+
}
|
|
1052
|
+
},
|
|
1053
|
+
"locations": {"type": "array", "items": {"type": "string"}},
|
|
1054
|
+
"mapped_genes": {"type": "array", "items": {"type": "string"}},
|
|
1055
|
+
"ci_lower": {"type": "number", "description": "Lower confidence interval"},
|
|
1056
|
+
"ci_upper": {"type": "number", "description": "Upper confidence interval"},
|
|
1057
|
+
"risk_frequency": {"type": "string", "description": "Risk allele frequency"},
|
|
1058
|
+
"range": {"type": "string", "description": "Effect size range"},
|
|
1059
|
+
"_links": {"type": "object", "description": "API links"}
|
|
1060
|
+
}
|
|
1061
|
+
}
|
|
1062
|
+
},
|
|
1063
|
+
"metadata": {
|
|
1064
|
+
"type": "object",
|
|
1065
|
+
"description": "Pagination and navigation metadata",
|
|
1066
|
+
"properties": {
|
|
1067
|
+
"pagination": {
|
|
1068
|
+
"type": "object",
|
|
1069
|
+
"properties": {
|
|
1070
|
+
"size": {"type": "integer"},
|
|
1071
|
+
"totalElements": {"type": "integer"},
|
|
1072
|
+
"totalPages": {"type": "integer"},
|
|
1073
|
+
"number": {"type": "integer"}
|
|
1074
|
+
}
|
|
1075
|
+
},
|
|
1076
|
+
"links": {"type": "object", "description": "Navigation links"}
|
|
1077
|
+
}
|
|
1078
|
+
}
|
|
1079
|
+
}
|
|
1080
|
+
}
|
|
1081
|
+
}
|
|
1082
|
+
]
|