Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI594/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1260", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 3.581e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002313, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.797e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.056207, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 1488494, "genomic_position_hg38": 1484722, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.063374", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Ala489Thr", "transcript_id": null, "dbsnp_id": "rs755919271", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI594" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1260/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1260/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1260/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1260/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1260/?format=api" } }, { "type": "SmallVariant", "id": "1261", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": 4.667e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 7.086e-05, "gnomad_NFE_maf": 0.0001055, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.719574, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45403695, "genomic_position_hg38": 45111497, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.069646", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Gly201Glu", "transcript_id": null, "dbsnp_id": "rs753880185", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI594" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1261/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1261/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1261/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1261/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1261/?format=api" } }, { "type": "SmallVariant", "id": "1262", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0331, "KGP_genomes_AFR_maf": 0.0136, "KGP_genomes_AMR_maf": 0.1037, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0537, "KGP_genomes_SAS_maf": 0.0225, "gnomad_maf": 0.05247, "gnomad_AFR_maf": 0.02947, "gnomad_AMR_maf": 0.072, "gnomad_ASJ_maf": 0.0752, "gnomad_EAS_maf": 0.0002718, "gnomad_FIN_maf": 0.05875, "gnomad_NFE_maf": 0.05737, "gnomad_OTH_maf": 0.05737, "gnomad_SAS_maf": 0.04292, "ESP_AA_maf": 0.03185, "ESP_EA_maf": 0.05875 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.613081, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45398369, "genomic_position_hg38": 45106171, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.075933", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg701Gln", "transcript_id": null, "dbsnp_id": "rs113400262", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI594" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1262/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1262/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1262/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1262/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1262/?format=api" } }, { "type": "SmallVariant", "id": "1263", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0314, "KGP_genomes_AFR_maf": 0.0136, "KGP_genomes_AMR_maf": 0.0994, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0497, "KGP_genomes_SAS_maf": 0.0204, "gnomad_maf": 0.04998, "gnomad_AFR_maf": 0.02968, "gnomad_AMR_maf": 0.06967, "gnomad_ASJ_maf": 0.06542, "gnomad_EAS_maf": 0.0002719, "gnomad_FIN_maf": 0.05871, "gnomad_NFE_maf": 0.05517, "gnomad_OTH_maf": 0.05401, "gnomad_SAS_maf": 0.03728, "ESP_AA_maf": 0.02434, "ESP_EA_maf": 0.04095 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.088808, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45393014, "genomic_position_hg38": 45100816, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.082137", "ref_allele": "G", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Pro982Ala", "transcript_id": null, "dbsnp_id": "rs61730030", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI594" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1263/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1263/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1263/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1263/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1263/?format=api" } }, { "type": "SmallVariant", "id": "1264", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": null, "KGP_genomes_EAS_maf": null, "KGP_genomes_EUR_maf": null, "KGP_genomes_SAS_maf": null, "gnomad_maf": null, "gnomad_AFR_maf": null, "gnomad_AMR_maf": null, "gnomad_ASJ_maf": null, "gnomad_EAS_maf": null, "gnomad_FIN_maf": null, "gnomad_NFE_maf": null, "gnomad_OTH_maf": null, "gnomad_SAS_maf": null, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.204723, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 186327, "genomic_position_hg38": 186327, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.088275", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2395G>A", "protein_change": "p.Glu799Lys", "transcript_id": "NM_001206744.2", "dbsnp_id": "rs121908085", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI594" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1264/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1264/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1264/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1264/gene/?format=api" }, "data": { "type": "Gene", "id": "TPO" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1264/?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": 5 } }