Gene Instance
This API endpoint handles listing (/genes) and retrieval (/genes/<ID>/) of genes that are contained in the database due to their association to
genetic variants that are involved in at least one oligogenic combination in OLIDA.
GET /api/genes/MTOR/?format=api
{ "data": { "type": "Gene", "id": "MTOR", "attributes": { "go_molecular_function": [ "['protein kinase activity', 'RNA polymerase III type 1 promoter sequence-specific DNA binding', 'identical protein binding', 'protein serine/threonine kinase activity', 'TFIIIC-class transcription factor complex binding', 'ATP binding', 'protein serine kinase activity', 'phosphoprotein binding', 'kinase activity', 'RNA polymerase III type 2 promoter sequence-specific DNA binding', 'protein binding', 'ribosome binding', 'RNA polymerase III type 3 promoter sequence-specific DNA binding', 'protein serine/threonine/tyrosine kinase activity']" ], "pathway_id": [ "kegg_path:hsa01521", "kegg_path:hsa01522", "kegg_path:hsa04012", "kegg_path:hsa04066", "kegg_path:hsa04072", "kegg_path:hsa04136", "kegg_path:hsa04140", "kegg_path:hsa04150", "kegg_path:hsa04151", "kegg_path:hsa04152", "kegg_path:hsa04211", "kegg_path:hsa04213", "kegg_path:hsa04218", "kegg_path:hsa04371", "kegg_path:hsa04613", "kegg_path:hsa04630", "kegg_path:hsa04659", "kegg_path:hsa04714", "kegg_path:hsa04910", "kegg_path:hsa04919", "kegg_path:hsa04920", "kegg_path:hsa04930", "kegg_path:hsa04931", "kegg_path:hsa04935", "kegg_path:hsa05010", "kegg_path:hsa05014", "kegg_path:hsa05016", "kegg_path:hsa05017", "kegg_path:hsa05022", "kegg_path:hsa05131", "kegg_path:hsa05163", "kegg_path:hsa05165", "kegg_path:hsa05167", "kegg_path:hsa05168", "kegg_path:hsa05170", "kegg_path:hsa05200", "kegg_path:hsa05205", "kegg_path:hsa05206", "kegg_path:hsa05210", "kegg_path:hsa05212", "kegg_path:hsa05214", "kegg_path:hsa05215", "kegg_path:hsa05221", "kegg_path:hsa05224", "kegg_path:hsa05225", "kegg_path:hsa05226", "kegg_path:hsa05230", "kegg_path:hsa05231", "kegg_path:hsa05235", "R-HSA-1257604", "R-HSA-1280218", "R-HSA-162582", "R-HSA-1632852", "R-HSA-1643685", "R-HSA-165159", "R-HSA-166208", "R-HSA-168256", "R-HSA-194138", "R-HSA-212436", "R-HSA-2219528", "R-HSA-2262752", "R-HSA-3371556", "R-HSA-3371571", "R-HSA-3700989", "R-HSA-380972", "R-HSA-388841", "R-HSA-389356", "R-HSA-389357", "R-HSA-4420097", "R-HSA-5218920", "R-HSA-5628897", "R-HSA-5633007", "R-HSA-5663202", "R-HSA-5674400", "R-HSA-6804757", "R-HSA-6806003", "R-HSA-6807070", "R-HSA-73857", "R-HSA-74160", "R-HSA-8943724", "R-HSA-8953897", "R-HSA-9006925", "R-HSA-9006934", "R-HSA-9612973", "R-HSA-9639288" ], "essential_gene": "Essential", "status": null, "uniprot_acc": "P42345", "ensembl_id": "None", "entrez_id": "ENSG00000198793", "chromosome_number": "1" }, "relationships": { "variant_set": { "meta": { "count": 4 }, "data": [ { "type": "SmallVariant", "id": "1881" }, { "type": "SmallVariant", "id": "1913" }, { "type": "SmallVariant", "id": "1959" }, { "type": "SmallVariant", "id": "2621" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/MTOR/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/MTOR/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 4 }, "data": [ { "type": "GeneCombination", "id": "626" }, { "type": "GeneCombination", "id": "643" }, { "type": "GeneCombination", "id": "669" }, { "type": "GeneCombination", "id": "871" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/MTOR/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/MTOR/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/MTOR/?format=api" } }, "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "lastmodified": "2021-10-18T11:00:44.474959", "status": "CU", "curator": null, "submitter": "cnachteg" } }