Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CEP290/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3049", "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": null }, "status": "CU", "genomic_position_hg19": 884430887, "genomic_position_hg38": null, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-05-16T12:02:57.905626", "ref_allele": "ATTC", "alt_allele": "A", "cdna_change": "c.7311_7313delGAA", "protein_change": "p.Lys2437del", "transcript_id": "NM_025114.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1452" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3049/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3049/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3049/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3049/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP290" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3049/?format=api" } }, { "type": "SmallVariant", "id": "477", "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": 1.337e-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": 3.052e-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": "Possibly Damaging", "cadd_prediction": 3.842419, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88483212, "genomic_position_hg38": 88089435, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.325557", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.3626C>G", "protein_change": "p.Ser1209Cys", "transcript_id": "NM_025114.4", "dbsnp_id": "rs753350609", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI244" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/477/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/477/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/477/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/477/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP290" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/477/?format=api" } }, { "type": "SmallVariant", "id": "631", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0154, "KGP_genomes_AFR_maf": 0.0121, "KGP_genomes_AMR_maf": 0.0144, "KGP_genomes_EAS_maf": 0.0238, "KGP_genomes_EUR_maf": 0.0258, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.01358, "gnomad_AFR_maf": 0.006075, "gnomad_AMR_maf": 0.01043, "gnomad_ASJ_maf": 0.001408, "gnomad_EAS_maf": 0.01075, "gnomad_FIN_maf": 0.02482, "gnomad_NFE_maf": 0.01758, "gnomad_OTH_maf": 0.01321, "gnomad_SAS_maf": 0.002806, "ESP_AA_maf": 0.00751, "ESP_EA_maf": 0.01711 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.325438, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88523494, "genomic_position_hg38": 88129717, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.206796", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.829G>C", "protein_change": "p.Glu277Gln", "transcript_id": "NM_025114.4", "dbsnp_id": "rs45502896", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI324" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/631/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/631/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/631/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/631/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP290" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/631/?format=api" } }, { "type": "SmallVariant", "id": "1366", "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": 4.076577, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88452716, "genomic_position_hg38": 88058939, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.675370", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.6727G>C", "protein_change": "p.Glu2243Gln", "transcript_id": "NM_025114.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI622" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1366/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1366/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1366/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1366/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP290" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1366/?format=api" } }, { "type": "SmallVariant", "id": "1367", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0058, "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": 0.0184, "gnomad_maf": 0.007577, "gnomad_AFR_maf": 0.001421, "gnomad_AMR_maf": 0.001863, "gnomad_ASJ_maf": 0.04068, "gnomad_EAS_maf": 7.418e-05, "gnomad_FIN_maf": 0.001054, "gnomad_NFE_maf": 0.007413, "gnomad_OTH_maf": 0.0067, "gnomad_SAS_maf": 0.01449, "ESP_AA_maf": 0.0008385, "ESP_EA_maf": 0.007544 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.393668, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88454728, "genomic_position_hg38": 88060951, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.681319", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.6401T>C", "protein_change": "p.Ile2134Thr", "transcript_id": "NM_025114.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI622" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1367/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1367/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1367/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1367/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP290" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1367/?format=api" } }, { "type": "SmallVariant", "id": "2470", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0114, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.005, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0429, "gnomad_maf": 0.01064, "gnomad_AFR_maf": 0.001732, "gnomad_AMR_maf": 0.00542, "gnomad_ASJ_maf": 0.006148, "gnomad_EAS_maf": 0.007235, "gnomad_FIN_maf": 0.002625, "gnomad_NFE_maf": 0.008122, "gnomad_OTH_maf": 0.008624, "gnomad_SAS_maf": 0.04366, "ESP_AA_maf": 0.001947, "ESP_EA_maf": 0.009708 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.86718, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 88472996, "genomic_position_hg38": 88079219, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.446249", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5237G>A", "protein_change": "p.Arg1746Gln", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1146" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2470/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2470/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2470/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2470/gene/?format=api" }, "data": { "type": "Gene", "id": "CEP290" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2470/?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": 6 } }