Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MAPT/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1435", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00219, "gnomad_AFR_maf": 0.0007118, "gnomad_AMR_maf": 0.00166, "gnomad_ASJ_maf": 0.002456, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005157, "gnomad_NFE_maf": 0.0038, "gnomad_OTH_maf": 0.003014, "gnomad_SAS_maf": 3.301e-05, "ESP_AA_maf": 0.0009091, "ESP_EA_maf": 0.004189 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.248431, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44060841, "genomic_position_hg38": 45983475, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.125236", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.671T>G", "protein_change": "p.Val224Gly", "transcript_id": "NM_016835.4", "dbsnp_id": "rs141120474", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI661" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1435/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1435/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1435/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1435/gene/?format=api" }, "data": { "type": "Gene", "id": "MAPT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1435/?format=api" } }, { "type": "SmallVariant", "id": "1441", "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": 4.023e-06, "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": 8.899e-06, "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": -1.122376, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44061183, "genomic_position_hg38": 45983817, "chromosome": "17", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.165675", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1013G>A", "protein_change": "p.Arg338Gln", "transcript_id": "NM_016835.4", "dbsnp_id": "rs1261221296", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI665" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1441/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1441/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1441/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1441/gene/?format=api" }, "data": { "type": "Gene", "id": "MAPT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1441/?format=api" } }, { "type": "SmallVariant", "id": "3098", "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": 3.642913, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44073870, "genomic_position_hg38": 45996504, "chromosome": "17", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.083624", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1667G>C", "protein_change": "p.Arg556Pro", "transcript_id": "NM_001123066.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1470" }, { "type": "Combination", "id": "OLI1471" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3098/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3098/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3098/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3098/gene/?format=api" }, "data": { "type": "Gene", "id": "MAPT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3098/?format=api" } }, { "type": "SmallVariant", "id": "3423", "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": 4.811957, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 44067354, "genomic_position_hg38": 45989988, "chromosome": "17", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.035794", "ref_allele": "G", "alt_allele": "TT", "cdna_change": "c.1293delinsTT", "protein_change": "p.Cys432LeufsTer9", "transcript_id": "NM_001123066.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1626" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3423/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3423/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3423/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3423/gene/?format=api" }, "data": { "type": "Gene", "id": "MAPT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3423/?format=api" } }, { "type": "SmallVariant", "id": "3438", "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": 2.46e-05, "gnomad_AFR_maf": 0.000391, "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": "Possibly Damaging", "cadd_prediction": 1.811026, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44060853, "genomic_position_hg38": 45983487, "chromosome": "17", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:25.598906", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.683C>G", "protein_change": "p.Ser228Cys", "transcript_id": "NM_001123066.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1634" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3438/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3438/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3438/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3438/gene/?format=api" }, "data": { "type": "Gene", "id": "MAPT" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3438/?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 } }