Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DSC2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "523", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0099, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.008435, "gnomad_AFR_maf": 0.002399, "gnomad_AMR_maf": 0.005609, "gnomad_ASJ_maf": 0.001886, "gnomad_EAS_maf": 5.441e-05, "gnomad_FIN_maf": 0.009151, "gnomad_NFE_maf": 0.01337, "gnomad_OTH_maf": 0.009622, "gnomad_SAS_maf": 0.002973, "ESP_AA_maf": 0.002111, "ESP_EA_maf": 0.01345 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.397614, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 28647999, "genomic_position_hg38": 31068033, "chromosome": "18", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.607819", "ref_allele": "T", "alt_allele": "TTC", "cdna_change": null, "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI268" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/523/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/523/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/523/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/523/gene/?format=api" }, "data": { "type": "Gene", "id": "DSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/523/?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": "3766", "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": 2.994824, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 28648969, "genomic_position_hg38": 31069003, "chromosome": "18", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:38.077666", "ref_allele": "GC", "alt_allele": "G", "cdna_change": "c.2398del", "protein_change": "p.Ala800LeufsTer56", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1800" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3766/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3766/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3766/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3766/gene/?format=api" }, "data": { "type": "Gene", "id": "DSC2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3766/?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": 3 } }