Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/EYA1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1297", "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": 8.769e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.785e-05, "gnomad_ASJ_maf": 0.0007938, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.921e-05, "gnomad_OTH_maf": 0.0004897, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": "Unknown", "cadd_prediction": 0.759424, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72211882, "genomic_position_hg38": 71299647, "chromosome": "8", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:48.294977", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.531T>C", "protein_change": "p.Ser210=", "transcript_id": "NM_172060.2", "dbsnp_id": "rs373102227", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI602" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1297/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1297/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1297/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1297/gene/?format=api" }, "data": { "type": "Gene", "id": "EYA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1297/?format=api" } }, { "type": "SmallVariant", "id": "2372", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.398e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0006014, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.199512, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72156896, "genomic_position_hg38": 71244661, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.872105", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1082G>A", "protein_change": "p.Arg361Gln", "transcript_id": "NM_172058.4", "dbsnp_id": "rs145219836", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1089" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2372/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2372/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2372/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2372/gene/?format=api" }, "data": { "type": "Gene", "id": "EYA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2372/?format=api" } }, { "type": "SmallVariant", "id": "2374", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001551, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001794, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.792e-06, "gnomad_OTH_maf": 0.0003258, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.291056, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72184069, "genomic_position_hg38": 71271834, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.884436", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.890G>A", "protein_change": "p.Arg297Gln", "transcript_id": "NM_172058.4", "dbsnp_id": "rs148647933", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1090" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2374/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2374/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2374/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2374/gene/?format=api" }, "data": { "type": "Gene", "id": "EYA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2374/?format=api" } }, { "type": "SmallVariant", "id": "2757", "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": 0.0001433, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001904, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.063311, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 72129011, "genomic_position_hg38": 71216776, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.059066", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1276G>A", "protein_change": "p.Gly426Ser", "transcript_id": "NM_000503.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1314" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2757/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2757/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2757/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2757/gene/?format=api" }, "data": { "type": "Gene", "id": "EYA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2757/?format=api" } }, { "type": "SmallVariant", "id": "3137", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.772e-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": 0.0003258, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.990989, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72211365, "genomic_position_hg38": 71299130, "chromosome": "8", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.303571", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.743C>T", "protein_change": "p.Thr248Met", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1490" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3137/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3137/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3137/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3137/gene/?format=api" }, "data": { "type": "Gene", "id": "EYA1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3137/?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": 5 } }