Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI683/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1475", "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": "Possibly Damaging", "cadd_prediction": 3.475774, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 155596262, "genomic_position_hg38": 155803568, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.390039", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Phe241Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI683" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1475/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1475/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1475/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1475/gene/?format=api" }, "data": { "type": "Gene", "id": "SHH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1475/?format=api" } }, { "type": "SmallVariant", "id": "1476", "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": 9.564e-05, "gnomad_AFR_maf": 0.0006767, "gnomad_AMR_maf": 0.0001156, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.182e-05, "gnomad_OTH_maf": 0.0003258, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.510335, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 113002407, "genomic_position_hg38": 113283560, "chromosome": "3", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.396321", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Val861Ile", "transcript_id": null, "dbsnp_id": "rs148702312", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI683" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1476/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1476/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1476/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1476/gene/?format=api" }, "data": { "type": "Gene", "id": "BOC" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1476/?format=api" } }, { "type": "SmallVariant", "id": "1477", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.006832, "gnomad_AFR_maf": 0.002646, "gnomad_AMR_maf": 0.002641, "gnomad_ASJ_maf": 9.94e-05, "gnomad_EAS_maf": 0.0001088, "gnomad_FIN_maf": 0.005826, "gnomad_NFE_maf": 0.01167, "gnomad_OTH_maf": 0.007365, "gnomad_SAS_maf": 0.002682, "ESP_AA_maf": 0.002726, "ESP_EA_maf": 0.01071 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.177088, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 9082068, "genomic_position_hg38": 9060521, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.402666", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Thr285Met", "transcript_id": null, "dbsnp_id": "rs72547298", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI683" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1477/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1477/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1477/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1477/gene/?format=api" }, "data": { "type": "Gene", "id": "SCUBE2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1477/?format=api" } }, { "type": "SmallVariant", "id": "1478", "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": 0.0006134, "gnomad_AFR_maf": 0.0001847, "gnomad_AMR_maf": 0.0005496, "gnomad_ASJ_maf": 0.0001986, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0001387, "gnomad_NFE_maf": 0.000917, "gnomad_OTH_maf": 0.0006527, "gnomad_SAS_maf": 0.0006208, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0004651 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.15025, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 219553528, "genomic_position_hg38": 218688805, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.408959", "ref_allele": "C", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Arg497Gly", "transcript_id": null, "dbsnp_id": "rs146493276", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI683" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1478/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1478/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1478/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1478/gene/?format=api" }, "data": { "type": "Gene", "id": "STK36" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1478/?format=api" } }, { "type": "SmallVariant", "id": "1479", "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": 4.068e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 9.07e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.137561, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 22446989, "genomic_position_hg38": 22120496, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.415211", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Val204Met", "transcript_id": null, "dbsnp_id": "rs1302800042", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI683" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1479/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1479/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1479/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1479/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1479/?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 } }