Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/POR/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "707", "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": 0.0004015, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.002484, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.441e-05, "gnomad_OTH_maf": 0.0002188, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.365197, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 75615369, "genomic_position_hg38": 75986051, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.706213", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1798C>T", "protein_change": "p.Arg600Trp", "transcript_id": "NM_000941.2", "dbsnp_id": "rs72557950", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI338" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/707/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/707/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/707/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/707/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/707/?format=api" } }, { "type": "SmallVariant", "id": "1205", "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": 4.65e-05, "gnomad_AFR_maf": 6.726e-05, "gnomad_AMR_maf": 2.908e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.173e-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": 3.750128, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 75614391, "genomic_position_hg38": 75985073, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.764511", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1264T>G", "protein_change": "p.Trp422Gly", "transcript_id": "NM_000941.2", "dbsnp_id": "rs536353066", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI573" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1205/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1205/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1205/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1205/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1205/?format=api" } }, { "type": "SmallVariant", "id": "2166", "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": 9.7e-05, "gnomad_AFR_maf": 0.0001962, "gnomad_AMR_maf": 2.905e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0007797, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.581e-05, "gnomad_OTH_maf": 0.0001662, "gnomad_SAS_maf": 3.272e-05, "ESP_AA_maf": 0.0002413, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.517484, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75615537, "genomic_position_hg38": 75986219, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.620770", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1876G>A", "protein_change": "p.Gly626Ser", "transcript_id": "NM_000941.3", "dbsnp_id": "rs369181144", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI997" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2166/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2166/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2166/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2166/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2166/?format=api" } }, { "type": "SmallVariant", "id": "2178", "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": "Damaging", "cadd_prediction": 1.484653, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 75608888, "genomic_position_hg38": 75979570, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:53.702562", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.357G>C", "protein_change": "p.Glu119Gln", "transcript_id": "NM_000941.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1002" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2178/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2178/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2178/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2178/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2178/?format=api" } }, { "type": "SmallVariant", "id": "3205", "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": 3.642e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001745, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.794e-05, "gnomad_OTH_maf": 0.0001664, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.474762, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75613084, "genomic_position_hg38": 75983766, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.712803", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.976T>C", "protein_change": "p.Tyr326His", "transcript_id": "NM_000941", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1526" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3205/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3205/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3205/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3205/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3205/?format=api" } }, { "type": "SmallVariant", "id": "3315", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0022, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0089, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00248, "gnomad_AFR_maf": 0.0009285, "gnomad_AMR_maf": 0.0007577, "gnomad_ASJ_maf": 0.001308, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002089, "gnomad_NFE_maf": 0.004433, "gnomad_OTH_maf": 0.002346, "gnomad_SAS_maf": 0.0001971, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.524709, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 75610876, "genomic_position_hg38": 75981558, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.380667", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.683C>T", "protein_change": "p.Pro228Leu", "transcript_id": "NM_000941", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1571" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3315/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3315/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3315/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3315/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3315/?format=api" } }, { "type": "SmallVariant", "id": "3708", "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": null, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 75985941, "genomic_position_hg38": 76356624, "chromosome": "7", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:34.262843", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1679C>T", "protein_change": "p.Thr560Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1748" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3708/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3708/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3708/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3708/gene/?format=api" }, "data": { "type": "Gene", "id": "POR" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3708/?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 } }