Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1172/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2499", "attributes": { "frequencies": { "KGP_genomes_maf": 0.007, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.013, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0164, "gnomad_maf": 0.00864, "gnomad_AFR_maf": 0.002462, "gnomad_AMR_maf": 0.005957, "gnomad_ASJ_maf": 0.02123, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.001386, "gnomad_NFE_maf": 0.01017, "gnomad_OTH_maf": 0.01287, "gnomad_SAS_maf": 0.01454, "ESP_AA_maf": 0.003404, "ESP_EA_maf": 0.01186 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": "Unknown", "cadd_prediction": 0.479002, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 180235662, "genomic_position_hg38": 180266527, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.612070", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.384C>T", "protein_change": "p.Asp128=", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1162" }, { "type": "Combination", "id": "OLI1163" }, { "type": "Combination", "id": "OLI1172" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2499/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2499/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2499/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2499/gene/?format=api" }, "data": { "type": "Gene", "id": "LHX4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2499/?format=api" } }, { "type": "SmallVariant", "id": "2518", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0052, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0219, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0123, "gnomad_AFR_maf": 0.003296, "gnomad_AMR_maf": 0.01058, "gnomad_ASJ_maf": 0.01451, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01165, "gnomad_NFE_maf": 0.01849, "gnomad_OTH_maf": 0.01257, "gnomad_SAS_maf": 0.002878, "ESP_AA_maf": 0.004863, "ESP_EA_maf": 0.01704 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.61086, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 61654298, "genomic_position_hg38": 60741739, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.727478", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.307T>A", "protein_change": "p.Ser103Thr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1172" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2518/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2518/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2518/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2518/gene/?format=api" }, "data": { "type": "Gene", "id": "CHD7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2518/?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 } }