Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/IDUA/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3548", "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": 8.915e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 6.089e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.043897, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 983829, "genomic_position_hg38": 990041, "chromosome": "4", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.948772", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.299+2092C>T", "protein_change": null, "transcript_id": "NM_000203.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1681" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3548/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3548/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3548/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3548/gene/?format=api" }, "data": { "type": "Gene", "id": "IDUA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3548/?format=api" } }, { "type": "SmallVariant", "id": "3557", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.002, "gnomad_maf": 0.0003684, "gnomad_AFR_maf": 8.001e-05, "gnomad_AMR_maf": 0.000139, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0003437, "gnomad_NFE_maf": 0.0004701, "gnomad_OTH_maf": 0.000193, "gnomad_SAS_maf": 0.0008055, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.72474, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 995783, "genomic_position_hg38": 1001995, "chromosome": "4", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:29.215232", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.806C>G", "protein_change": "p.Ser269Cys", "transcript_id": "NM_000203.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1684" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3557/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3557/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3557/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3557/gene/?format=api" }, "data": { "type": "Gene", "id": "IDUA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3557/?format=api" } }, { "type": "SmallVariant", "id": "3563", "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": 0.855308, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 980902, "genomic_position_hg38": 987114, "chromosome": "4", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:29.402101", "ref_allele": "G", "alt_allele": "GCTGGCGCTC", "cdna_change": "c.30_31insCTGGCGCTC", "protein_change": "p.Leu11_Ala12insAlaLeuLeu", "transcript_id": "NM_000203.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1687" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3563/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3563/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3563/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3563/gene/?format=api" }, "data": { "type": "Gene", "id": "IDUA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3563/?format=api" } }, { "type": "SmallVariant", "id": "3589", "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": 2.498e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001082, "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": 0.799345, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 996684, "genomic_position_hg38": 1002896, "chromosome": "4", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:30.179163", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1354C>A", "protein_change": "p.Arg452Ser", "transcript_id": "NM_000203.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1695" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3589/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3589/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3589/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3589/gene/?format=api" }, "data": { "type": "Gene", "id": "IDUA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3589/?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 } }