Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BRCA1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1586", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.003, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.001673, "gnomad_AFR_maf": 0.0009847, "gnomad_AMR_maf": 0.0009836, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0007886, "gnomad_NFE_maf": 0.002494, "gnomad_OTH_maf": 0.00229, "gnomad_SAS_maf": 0.00183, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.00314 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.219537, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41245027, "genomic_position_hg38": 43093010, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.073079", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2521C>T", "protein_change": "p.Arg841Trp", "transcript_id": "NM_007294.3", "dbsnp_id": "rs1800709", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI722" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1586/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1586/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1586/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1586/gene/?format=api" }, "data": { "type": "Gene", "id": "BRCA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1586/?format=api" } }, { "type": "SmallVariant", "id": "1655", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003823, "gnomad_AFR_maf": 0.001169, "gnomad_AMR_maf": 0.001652, "gnomad_ASJ_maf": 0.001093, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001944, "gnomad_NFE_maf": 0.00685, "gnomad_OTH_maf": 0.004092, "gnomad_SAS_maf": 0.0009161, "ESP_AA_maf": 0.001135, "ESP_EA_maf": 0.006744 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.196668, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 41243509, "genomic_position_hg38": 43091492, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.512060", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.4039A>G", "protein_change": "p.Arg1347Gly", "transcript_id": "NM_007294.3", "dbsnp_id": "rs28897689", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI748" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1655/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1655/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1655/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1655/gene/?format=api" }, "data": { "type": "Gene", "id": "BRCA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1655/?format=api" } }, { "type": "SmallVariant", "id": "3591", "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": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 2.901173, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 41244865, "genomic_position_hg38": 43092848, "chromosome": "17", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:30.253974", "ref_allele": "GTT", "alt_allele": "G", "cdna_change": "c.2681_2682delAA", "protein_change": "p.Lys894ThrfsTer8", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1696" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3591/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3591/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3591/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3591/gene/?format=api" }, "data": { "type": "Gene", "id": "BRCA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3591/?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": 3 } }