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/PSEN1/?format=api
{ "data": { "type": "Gene", "id": "PSEN1", "attributes": { "go_molecular_function": [ "['ATPase binding', 'beta-catenin binding', 'calcium channel activity', 'PDZ domain binding', 'growth factor receptor binding', 'cadherin binding', 'endopeptidase activity', 'aspartic endopeptidase activity, intramembrane cleaving', 'aspartic-type endopeptidase activity', 'protein binding']" ], "pathway_id": [ "kegg_path:hsa04310", "kegg_path:hsa04330", "kegg_path:hsa04722", "kegg_path:hsa05010", "kegg_path:hsa05022", "kegg_path:hsa05165", "kegg_path:hsa04310", "kegg_path:hsa04330", "kegg_path:hsa04722", "kegg_path:hsa05010", "kegg_path:hsa05022", "kegg_path:hsa05165", "R-HSA-1236394", "R-HSA-1251985", "R-HSA-1266738", "R-HSA-1474228", "R-HSA-1474244", "R-HSA-157118", "R-HSA-162582", "R-HSA-1643685", "R-HSA-168249", "R-HSA-168256", "R-HSA-193692", "R-HSA-193704", "R-HSA-1980143", "R-HSA-1980145", "R-HSA-204998", "R-HSA-205043", "R-HSA-2122948", "R-HSA-2644602", "R-HSA-2644603", "R-HSA-2644606", "R-HSA-2682334", "R-HSA-2894858", "R-HSA-2894862", "R-HSA-2979096", "R-HSA-3928665", "R-HSA-422475", "R-HSA-5663202", "R-HSA-6798695", "R-HSA-73887", "R-HSA-9006934", "R-HSA-9012852", "R-HSA-9013507", "R-HSA-9013694", "R-HSA-9013700", "R-HSA-9017802", "R-HSA-9675108" ], "essential_gene": "Essential", "status": null, "uniprot_acc": "P49768", "ensembl_id": "None", "entrez_id": "ENSG00000080815", "chromosome_number": "14" }, "relationships": { "variant_set": { "meta": { "count": 1 }, "data": [ { "type": "SmallVariant", "id": "3096" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/PSEN1/relationships/variant_set?format=api", "related": "https://olida.ibsquare.be/api/genes/PSEN1/variants/?format=api" } }, "genecombination_set": { "meta": { "count": 2 }, "data": [ { "type": "GeneCombination", "id": "1038" }, { "type": "GeneCombination", "id": "1039" } ], "links": { "self": "https://olida.ibsquare.be/api/genes/PSEN1/relationships/genecombination_set?format=api", "related": "https://olida.ibsquare.be/api/genes/PSEN1/genecombinations/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/genes/PSEN1/?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": "2023-05-16T12:02:33.338970", "status": "CU", "curator": null, "submitter": "cnachteg" } }