Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI193/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "376", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0079, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004694, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006198, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.759e-05, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.860717, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20763485, "genomic_position_hg38": 20189346, "chromosome": "13", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.723518", "ref_allele": "AG", "alt_allele": "A", "cdna_change": "c.235delC", "protein_change": "p.Leu79CysfsTer3", "transcript_id": "NM_004004.7", "dbsnp_id": "rs80338943", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI192" }, { "type": "Combination", "id": "OLI193" }, { "type": "Combination", "id": "OLI251" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/376/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/376/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/376/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/376/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/376/?format=api" } }, { "type": "SmallVariant", "id": "377", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0008393, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.001091, "gnomad_EAS_maf": 0.00696, "gnomad_FIN_maf": 0.001296, "gnomad_NFE_maf": 0.0002902, "gnomad_OTH_maf": 0.0003258, "gnomad_SAS_maf": 0.0002613, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.953275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 35250943, "genomic_position_hg38": 34785342, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.729928", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.580G>A", "protein_change": "p.Ala194Thr", "transcript_id": "NM_001005752.1", "dbsnp_id": "rs117385606", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI193" }, { "type": "Combination", "id": "OLI194" }, { "type": "Combination", "id": "OLI252" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/377/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/377/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/377/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/377/gene/?format=api" }, "data": { "type": "Gene", "id": "GJB3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/377/?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 } }