Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/POU2F1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "643", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003044, "gnomad_AFR_maf": 0.0006767, "gnomad_AMR_maf": 0.000318, "gnomad_ASJ_maf": 0.0002979, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.006515, "gnomad_NFE_maf": 0.005113, "gnomad_OTH_maf": 0.001794, "gnomad_SAS_maf": 0.0002287, "ESP_AA_maf": 0.001362, "ESP_EA_maf": 0.00407 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.264558, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 167358837, "genomic_position_hg38": 167389600, "chromosome": "1", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.286800", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.826A>G", "protein_change": "p.Thr276Ala", "transcript_id": "NM_002697.4", "dbsnp_id": "rs142378150", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/643/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/643/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/643/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/643/gene/?format=api" }, "data": { "type": "Gene", "id": "POU2F1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/643/?format=api" } }, { "type": "SmallVariant", "id": "689", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 0.0001114, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.243e-05, "gnomad_NFE_maf": 0.0002024, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.842593, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 167358840, "genomic_position_hg38": 167389603, "chromosome": "1", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:44.591278", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.829C>T", "protein_change": "p.Arg277Cys", "transcript_id": "NM_002697.4", "dbsnp_id": "rs145849668", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/689/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/689/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/689/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/689/gene/?format=api" }, "data": { "type": "Gene", "id": "POU2F1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/689/?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" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 2 } }