Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI490/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1029", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0182, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.1282, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.02599, "gnomad_AFR_maf": 0.001907, "gnomad_AMR_maf": 0.1747, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001631, "gnomad_FIN_maf": 0.01197, "gnomad_NFE_maf": 0.0004671, "gnomad_OTH_maf": 0.02044, "gnomad_SAS_maf": 0.0005553, "ESP_AA_maf": 0.002043, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.885368, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 135781205, "genomic_position_hg38": 132905818, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.687782", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI479" }, { "type": "Combination", "id": "OLI489" }, { "type": "Combination", "id": "OLI490" }, { "type": "Combination", "id": "OLI491" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1029/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1029/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1029/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1029/gene/?format=api" }, "data": { "type": "Gene", "id": "TSC1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1029/?format=api" } }, { "type": "SmallVariant", "id": "1041", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0086, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0605, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0102, "gnomad_AFR_maf": 0.0005818, "gnomad_AMR_maf": 0.06974, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.564e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006837, "gnomad_OTH_maf": 0.006457, "gnomad_SAS_maf": 0.0001635, "ESP_AA_maf": 0.001257, "ESP_EA_maf": 0.001437 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.291406, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2794993, "genomic_position_hg38": 2685827, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.762249", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI486" }, { "type": "Combination", "id": "OLI490" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1041/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1041/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1041/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1041/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1041/?format=api" } }, { "type": "SmallVariant", "id": "1046", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003857, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.002602, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.638e-05, "gnomad_OTH_maf": 0.0006515, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.055394, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 100380564, "genomic_position_hg38": 99914227, "chromosome": "14", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.793501", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI490" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1046/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1046/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1046/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1046/gene/?format=api" }, "data": { "type": "Gene", "id": "EML1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1046/?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 } }