Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI997/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2164", "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 6.616492, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66863249, "genomic_position_hg38": 67643407, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.610007", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1768G>C", "protein_change": "p.Gly590Arg", "transcript_id": "NM_000044.6", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI997" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2164/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2164/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2164/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2164/gene/?format=api" }, "data": { "type": "Gene", "id": "AR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2164/?format=api" } }, { "type": "SmallVariant", "id": "2165", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.001, "gnomad_maf": 0.0003031, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001735, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.00332, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.817e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0002613, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.749599, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 54417171, "genomic_position_hg38": 53950453, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.615178", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.806G>A", "protein_change": "p.Arg269Gln", "transcript_id": "NM_130851.3", "dbsnp_id": "rs534215890", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI997" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2165/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2165/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2165/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2165/gene/?format=api" }, "data": { "type": "Gene", "id": "BMP4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2165/?format=api" } }, { "type": "SmallVariant", "id": "2166", "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": 9.7e-05, "gnomad_AFR_maf": 0.0001962, "gnomad_AMR_maf": 2.905e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0007797, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.581e-05, "gnomad_OTH_maf": 0.0001662, "gnomad_SAS_maf": 3.272e-05, "ESP_AA_maf": 0.0002413, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.517484, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75615537, "genomic_position_hg38": 75986219, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.620770", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1876G>A", "protein_change": "p.Gly626Ser", "transcript_id": "NM_000941.3", "dbsnp_id": "rs369181144", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI997" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2166/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2166/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2166/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2166/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2166/?format=api" } }, { "type": "SmallVariant", "id": "2167", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003658, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.005068, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "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": "Benign", "cadd_prediction": 0.726655, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 56177692, "genomic_position_hg38": 56881865, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.626353", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.2665G>C", "protein_change": "p.Val889Leu", "transcript_id": "NM_005921.2", "dbsnp_id": "rs56228802", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI997" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2167/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2167/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2167/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2167/gene/?format=api" }, "data": { "type": "Gene", "id": "MAP3K1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2167/?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": 4 } }