Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/TEK/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "17", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.0007994, "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": 8.792e-06, "gnomad_OTH_maf": 0.0004888, "gnomad_SAS_maf": 0.006435, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.913471, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27158085, "genomic_position_hg38": 27158087, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.608349", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Glu103Asp", "transcript_id": null, "dbsnp_id": "rs572527340", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI009" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/17/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/17/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/17/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/17/gene/?format=api" }, "data": { "type": "Gene", "id": "TEK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/17/?format=api" } }, { "type": "SmallVariant", "id": "19", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0351, "KGP_genomes_AFR_maf": 0.0303, "KGP_genomes_AMR_maf": 0.036, "KGP_genomes_EAS_maf": 0.0933, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0153, "gnomad_maf": 0.01871, "gnomad_AFR_maf": 0.02357, "gnomad_AMR_maf": 0.04888, "gnomad_ASJ_maf": 0.004172, "gnomad_EAS_maf": 0.1061, "gnomad_FIN_maf": 0.007033, "gnomad_NFE_maf": 0.0006613, "gnomad_OTH_maf": 0.009647, "gnomad_SAS_maf": 0.01151, "ESP_AA_maf": 0.01793, "ESP_EA_maf": 0.0005814 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.686723, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27168571, "genomic_position_hg38": 27168573, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.621379", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Ile148Thr", "transcript_id": null, "dbsnp_id": "rs35969327", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI010" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/19/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/19/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/19/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/19/gene/?format=api" }, "data": { "type": "Gene", "id": "TEK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/19/?format=api" } }, { "type": "SmallVariant", "id": "21", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.567243, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27172626, "genomic_position_hg38": 27172628, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.634520", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Gln214Pro", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI011" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/21/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/21/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/21/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/21/gene/?format=api" }, "data": { "type": "Gene", "id": "TEK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/21/?format=api" } }, { "type": "SmallVariant", "id": "23", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0002747, "gnomad_AFR_maf": 0.0003076, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001305, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 7.049e-05, "gnomad_OTH_maf": 0.0001631, "gnomad_SAS_maf": 0.0009472, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.582875, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27204927, "genomic_position_hg38": 27204929, "chromosome": "9", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:40.647705", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.2228G>C", "protein_change": "p.Gly743Ala", "transcript_id": "NM_000459.5", "dbsnp_id": "rs202131936", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI012" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/23/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/23/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/23/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/23/gene/?format=api" }, "data": { "type": "Gene", "id": "TEK" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/23/?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 } }