Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1050/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2294", "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": 3.582e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001089, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.522e-05, "gnomad_OTH_maf": 0.0003264, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.630282, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 108201008, "genomic_position_hg38": 108330281, "chromosome": "11", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.393922", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.7375C>T", "protein_change": "p.Arg2459Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1050" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2294/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2294/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2294/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2294/gene/?format=api" }, "data": { "type": "Gene", "id": "ATM" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2294/?format=api" } }, { "type": "SmallVariant", "id": "2295", "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": 2.023e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.963e-05, "gnomad_NFE_maf": 3.557e-05, "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": 3.798548, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 124835268, "genomic_position_hg38": 124350722, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.399830", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3709G>A", "protein_change": "p.Val1237Ile", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1050" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2295/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2295/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2295/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2295/gene/?format=api" }, "data": { "type": "Gene", "id": "NCOR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2295/?format=api" } }, { "type": "SmallVariant", "id": "2296", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001548, "gnomad_AFR_maf": 0.0002463, "gnomad_AMR_maf": 0.0008964, "gnomad_ASJ_maf": 0.001985, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0003699, "gnomad_NFE_maf": 0.00272, "gnomad_OTH_maf": 0.002283, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.003373 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.062196, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89873415, "genomic_position_hg38": 89330184, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.405761", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.752C>T", "protein_change": "p.Thr251Ile", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1050" }, { "type": "Combination", "id": "OLI1053" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2296/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2296/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2296/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2296/gene/?format=api" }, "data": { "type": "Gene", "id": "POLG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2296/?format=api" } }, { "type": "SmallVariant", "id": "2297", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001545, "gnomad_AFR_maf": 0.0002463, "gnomad_AMR_maf": 0.0007518, "gnomad_ASJ_maf": 0.001985, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0003443, "gnomad_NFE_maf": 0.002698, "gnomad_OTH_maf": 0.002285, "gnomad_SAS_maf": 0.000294, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.003373 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.340308, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89868870, "genomic_position_hg38": 89325639, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.411641", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1760C>T", "protein_change": "p.Pro587Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1050" }, { "type": "Combination", "id": "OLI1053" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2297/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2297/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2297/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2297/gene/?format=api" }, "data": { "type": "Gene", "id": "POLG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2297/?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 } }