Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/POLG/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "235", "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": 4.18099, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89864147, "genomic_position_hg38": 89320916, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.910781", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.2831A>G", "protein_change": "p.Glu944Gly", "transcript_id": "NM_001126131.1", "dbsnp_id": "rs1555452777", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI114" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/235/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/235/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/235/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/235/gene/?format=api" }, "data": { "type": "Gene", "id": "POLG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/235/?format=api" } }, { "type": "SmallVariant", "id": "272", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001472, "gnomad_AFR_maf": 6.155e-05, "gnomad_AMR_maf": 8.674e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002638, "gnomad_OTH_maf": 0.0004889, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004545, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.908681, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89865023, "genomic_position_hg38": 89321792, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.123523", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2542G>A", "protein_change": "p.Gly848Ser", "transcript_id": "NM_001126131.1", "dbsnp_id": "rs113994098", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI131" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/272/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/272/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/272/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/272/gene/?format=api" }, "data": { "type": "Gene", "id": "POLG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/272/?format=api" } }, { "type": "SmallVariant", "id": "1996", "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": 4.773e-05, "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": 0.0001055, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.726164, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89865011, "genomic_position_hg38": 89321780, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.593442", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2554C>T", "protein_change": "p.Arg852Cys", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI925" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1996/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1996/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1996/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1996/gene/?format=api" }, "data": { "type": "Gene", "id": "POLG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1996/?format=api" } }, { "type": "SmallVariant", "id": "2229", "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": 2.011e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.793e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.779e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.941617, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89862570, "genomic_position_hg38": 89319339, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.999025", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2993C>T", "protein_change": "p.Ser998Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1030" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2229/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2229/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2229/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2229/gene/?format=api" }, "data": { "type": "Gene", "id": "POLG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2229/?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" } }, { "type": "SmallVariant", "id": "2308", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0028, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0115, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003442, "gnomad_AFR_maf": 0.0007384, "gnomad_AMR_maf": 0.004973, "gnomad_ASJ_maf": 0.005853, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004158, "gnomad_NFE_maf": 0.00419, "gnomad_OTH_maf": 0.007334, "gnomad_SAS_maf": 0.0003593, "ESP_AA_maf": 0.0006818, "ESP_EA_maf": 0.005466 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.775605, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89873364, "genomic_position_hg38": 89330133, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.478102", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.803G>C", "protein_change": "p.Gly268Ala", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1055" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2308/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2308/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2308/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2308/gene/?format=api" }, "data": { "type": "Gene", "id": "POLG" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2308/?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": 7 } }