Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1262/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2662", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002299, "gnomad_AFR_maf": 0.0009229, "gnomad_AMR_maf": 0.002342, "gnomad_ASJ_maf": 0.00625, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.621e-05, "gnomad_NFE_maf": 0.003473, "gnomad_OTH_maf": 0.002282, "gnomad_SAS_maf": 0.000294, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.714247, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5283323, "genomic_position_hg38": 5302677, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.480174", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.518T>G", "protein_change": "p.Leu173Arg", "transcript_id": "NM_144773.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 9 }, "data": [ { "type": "Combination", "id": "OLI1261" }, { "type": "Combination", "id": "OLI1262" }, { "type": "Combination", "id": "OLI1270" }, { "type": "Combination", "id": "OLI1272" }, { "type": "Combination", "id": "OLI1288" }, { "type": "Combination", "id": "OLI1289" }, { "type": "Combination", "id": "OLI1293" }, { "type": "Combination", "id": "OLI1303" }, { "type": "Combination", "id": "OLI1393" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2662/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2662/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2662/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2662/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2662/?format=api" } }, { "type": "SmallVariant", "id": "2663", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0082, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0187, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0229, "KGP_genomes_SAS_maf": 0.0041, "gnomad_maf": 0.01364, "gnomad_AFR_maf": 0.003015, "gnomad_AMR_maf": 0.007258, "gnomad_ASJ_maf": 0.01141, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.01031, "gnomad_NFE_maf": 0.0215, "gnomad_OTH_maf": 0.01354, "gnomad_SAS_maf": 0.008526, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.946036, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 83634712, "genomic_position_hg38": 84005396, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.486470", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1303G>A", "protein_change": "p.Val435Ile", "transcript_id": "NM_006080.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1262" }, { "type": "Combination", "id": "OLI1295" }, { "type": "Combination", "id": "OLI1297" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2663/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2663/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2663/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2663/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA3A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2663/?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 } }