Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/PINK1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "263", "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": 2.365363, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20960211, "genomic_position_hg38": 20633718, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.076796", "ref_allele": "G", "alt_allele": "GCG", "cdna_change": "c.169_170dup", "protein_change": "p.Arg58_Val59insGlyArg", "transcript_id": "NM_032409.3", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI127" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/263/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/263/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/263/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/263/gene/?format=api" }, "data": { "type": "Gene", "id": "PINK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/263/?format=api" } }, { "type": "SmallVariant", "id": "264", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0001035, "gnomad_AFR_maf": 6.154e-05, "gnomad_AMR_maf": 0.0001446, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0009788, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.803e-06, "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": "Damaging", "cadd_prediction": 3.480063, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 20975094, "genomic_position_hg38": 20648601, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.082613", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg407Gln", "transcript_id": null, "dbsnp_id": "rs556540177", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI128" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/264/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/264/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/264/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/264/gene/?format=api" }, "data": { "type": "Gene", "id": "PINK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/264/?format=api" } }, { "type": "SmallVariant", "id": "267", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0112, "KGP_genomes_AFR_maf": 0.0378, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.003127, "gnomad_AFR_maf": 0.04126, "gnomad_AMR_maf": 0.002632, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001499, "gnomad_OTH_maf": 0.0008162, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": 0.0429, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.14045, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 20975662, "genomic_position_hg38": 20649169, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.094261", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Glu476Lys", "transcript_id": null, "dbsnp_id": "rs115477764", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI129" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/267/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/267/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/267/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/267/gene/?format=api" }, "data": { "type": "Gene", "id": "PINK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/267/?format=api" } }, { "type": "SmallVariant", "id": "405", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 1.592e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.439e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.272434, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20975070, "genomic_position_hg38": 20648577, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.907232", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1196C>T", "protein_change": "p.Pro399Leu", "transcript_id": "NM_032409.2", "dbsnp_id": "rs119451946", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI209" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/405/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/405/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/405/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/405/gene/?format=api" }, "data": { "type": "Gene", "id": "PINK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/405/?format=api" } }, { "type": "SmallVariant", "id": "441", "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": "Possibly Damaging", "cadd_prediction": 2.110191, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 20977050, "genomic_position_hg38": 20650557, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.109633", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.1612A>C", "protein_change": "p.Thr538Pro", "transcript_id": "NM_032409.2", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI228" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/441/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/441/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/441/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/441/gene/?format=api" }, "data": { "type": "Gene", "id": "PINK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/441/?format=api" } }, { "type": "SmallVariant", "id": "443", "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": 0.0, "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": 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": 2.075382, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 20960405, "genomic_position_hg38": 20633912, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.121905", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.364G>A", "protein_change": "p.Val122Ile", "transcript_id": "NM_032409.2", "dbsnp_id": "rs1433292317", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI229" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/443/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/443/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/443/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/443/gene/?format=api" }, "data": { "type": "Gene", "id": "PINK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/443/?format=api" } }, { "type": "SmallVariant", "id": "444", "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": 2.789e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001632, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.765e-05, "gnomad_OTH_maf": 0.0001633, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.2159, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 20975680, "genomic_position_hg38": 20649187, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.127964", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1444G>A", "protein_change": "p.Val482Met", "transcript_id": "NM_032409.2", "dbsnp_id": "rs773843241", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI230" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/444/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/444/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/444/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/444/gene/?format=api" }, "data": { "type": "Gene", "id": "PINK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/444/?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 } }