Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI647/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1401", "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": 4.015e-06, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "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": 2.141453, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 237753154, "genomic_position_hg38": 237589854, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.895020", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.3660T>A", "protein_change": "p.Asp1220Glu", "transcript_id": "NM_001035.2", "dbsnp_id": "rs1019112544", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1401/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1401/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1401/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1401/gene/?format=api" }, "data": { "type": "Gene", "id": "RYR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1401/?format=api" } }, { "type": "SmallVariant", "id": "1402", "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": 4.08511, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 228528584, "genomic_position_hg38": 228340883, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.901828", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.20563C>A", "protein_change": "p.Arg6855Ser", "transcript_id": "NM_001271223.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1402/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1402/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1402/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1402/gene/?format=api" }, "data": { "type": "Gene", "id": "OBSCN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1402/?format=api" } }, { "type": "SmallVariant", "id": "1403", "attributes": { "frequencies": { "KGP_genomes_maf": 0.016, "KGP_genomes_AFR_maf": 0.0598, "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": 0.003685, "gnomad_AFR_maf": 0.05377, "gnomad_AMR_maf": 0.003424, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001395, "gnomad_OTH_maf": 0.001939, "gnomad_SAS_maf": 7.004e-05, "ESP_AA_maf": 0.0438, "ESP_EA_maf": 0.0002397 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.345989, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 2788901, "genomic_position_hg38": 2679735, "chromosome": "12", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.908643", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.5383G>A", "protein_change": "p.Gly1795Arg", "transcript_id": "NM_001129840.2", "dbsnp_id": "rs111298509", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1403/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1403/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1403/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1403/gene/?format=api" }, "data": { "type": "Gene", "id": "CACNA1C" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1403/?format=api" } }, { "type": "SmallVariant", "id": "1404", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 3.98e-05, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.164e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.074119, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 28648084, "genomic_position_hg38": 31068118, "chromosome": "18", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.915608", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2603C>T", "protein_change": "p.Ser868Phe", "transcript_id": "NM_024422.4", "dbsnp_id": "rs141873745", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1404/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1404/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1404/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1404/gene/?format=api" }, "data": { "type": "Gene", "id": "DSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1404/?format=api" } }, { "type": "SmallVariant", "id": "1405", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005134, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.002027, "gnomad_ASJ_maf": 0.0007943, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.243e-05, "gnomad_NFE_maf": 0.0002817, "gnomad_OTH_maf": 0.002445, "gnomad_SAS_maf": 6.535e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.000608, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 91670121, "genomic_position_hg38": 92040807, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.922523", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4826G>A", "protein_change": "p.Arg1609Lys", "transcript_id": "NM_005751.4", "dbsnp_id": "rs148146011", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1405/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1405/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1405/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1405/gene/?format=api" }, "data": { "type": "Gene", "id": "AKAP9" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1405/?format=api" } }, { "type": "SmallVariant", "id": "1406", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.005602, "gnomad_AFR_maf": 0.001138, "gnomad_AMR_maf": 0.006724, "gnomad_ASJ_maf": 0.0179, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0009822, "gnomad_NFE_maf": 0.007812, "gnomad_OTH_maf": 0.009234, "gnomad_SAS_maf": 0.0006587, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.01037 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.513736, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 112544125, "genomic_position_hg38": 110784367, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.929394", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1364C>T", "protein_change": "p.Ser455Leu", "transcript_id": "NM_001134363.2", "dbsnp_id": "rs189569984", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1406/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1406/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1406/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1406/gene/?format=api" }, "data": { "type": "Gene", "id": "RBM20" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1406/?format=api" } }, { "type": "SmallVariant", "id": "1407", "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": 5.547111, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 65194229, "genomic_position_hg38": 64328511, "chromosome": "4", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.936170", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.331+1G>A", "protein_change": null, "transcript_id": "NM_001010874.5", "dbsnp_id": "rs1057517699", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1407/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1407/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1407/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1407/gene/?format=api" }, "data": { "type": "Gene", "id": "TECRL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1407/?format=api" } }, { "type": "SmallVariant", "id": "1408", "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": 4.374e-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": 8.79e-05, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.373851, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75863601, "genomic_position_hg38": 74103843, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.942860", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.2046A>T", "protein_change": "p.Leu682Phe", "transcript_id": "NM_014000.2", "dbsnp_id": "rs565398652", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI647" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1408/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1408/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1408/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1408/gene/?format=api" }, "data": { "type": "Gene", "id": "VCL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1408/?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) 2026 · 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": 8 } }