Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI527/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1108", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0132, "KGP_genomes_AFR_maf": 0.0015, "KGP_genomes_AMR_maf": 0.0216, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0457, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.02932, "gnomad_AFR_maf": 0.00574, "gnomad_AMR_maf": 0.02303, "gnomad_ASJ_maf": 0.02668, "gnomad_EAS_maf": 0.0001634, "gnomad_FIN_maf": 0.02615, "gnomad_NFE_maf": 0.04662, "gnomad_OTH_maf": 0.03597, "gnomad_SAS_maf": 0.004317, "ESP_AA_maf": 0.009305, "ESP_EA_maf": 0.04628 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.027731, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72360387, "genomic_position_hg38": 70600631, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.180336", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.272C>T", "protein_change": "p.Ala91Val", "transcript_id": "NM_001083116.1", "dbsnp_id": "rs35947132", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 10 }, "data": [ { "type": "Combination", "id": "OLI523" }, { "type": "Combination", "id": "OLI525" }, { "type": "Combination", "id": "OLI526" }, { "type": "Combination", "id": "OLI527" }, { "type": "Combination", "id": "OLI529" }, { "type": "Combination", "id": "OLI531" }, { "type": "Combination", "id": "OLI534" }, { "type": "Combination", "id": "OLI535" }, { "type": "Combination", "id": "OLI537" }, { "type": "Combination", "id": "OLI539" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1108/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1108/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1108/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1108/gene/?format=api" }, "data": { "type": "Gene", "id": "PRF1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1108/?format=api" } }, { "type": "SmallVariant", "id": "1114", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 9.134e-05, "gnomad_AFR_maf": 7.137e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005239, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.927e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002332 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.184695, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73830461, "genomic_position_hg38": 75834380, "chromosome": "17", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:47.216821", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2243C>T", "protein_change": "p.Ala748Val", "transcript_id": "NM_199242.3", "dbsnp_id": "rs375724532", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI527" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1114/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1114/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1114/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1114/gene/?format=api" }, "data": { "type": "Gene", "id": "UNC13D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1114/?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 } }