Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/IFT172/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1482", "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": 1.194e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.799e-06, "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": "Damaging", "cadd_prediction": 4.102812, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27681086, "genomic_position_hg38": 27458219, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.434281", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Ala961Val", "transcript_id": null, "dbsnp_id": "rs769578794", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI685" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1482/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1482/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1482/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1482/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1482/?format=api" } }, { "type": "SmallVariant", "id": "2002", "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": 1.193e-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": 1.759e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.182836, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27680604, "genomic_position_hg38": 27457737, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.631309", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3130C>T", "protein_change": "p.Arg1044Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI928" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2002/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2002/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2002/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2002/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2002/?format=api" } }, { "type": "SmallVariant", "id": "2005", "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": 6.782437, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27701001, "genomic_position_hg38": 27478134, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.650272", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1028C>G", "protein_change": "p.Ser343Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI929" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2005/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2005/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2005/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2005/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2005/?format=api" } }, { "type": "SmallVariant", "id": "3028", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0068, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0013, "gnomad_AFR_maf": 0.003752, "gnomad_AMR_maf": 0.001099, "gnomad_ASJ_maf": 0.01677, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003956, "gnomad_OTH_maf": 0.00228, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.711562, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27680746, "genomic_position_hg38": 27457879, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.684922", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.3073C>G", "protein_change": "p.Pro1025Ala", "transcript_id": "NM_015662.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1439" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3028/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3028/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3028/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3028/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3028/?format=api" } }, { "type": "SmallVariant", "id": "3029", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003022, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 8.673e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003262, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 0.0005625, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 4.039559, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27671847, "genomic_position_hg38": 27448980, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.691152", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.4363C>T", "protein_change": "p.Arg1455Trp", "transcript_id": "NM_015662.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1440" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3029/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3029/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3029/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3029/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3029/?format=api" } }, { "type": "SmallVariant", "id": "3041", "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": 0.0005449, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.0001735, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.24e-05, "gnomad_NFE_maf": 0.001117, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.255567, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27685971, "genomic_position_hg38": 27463104, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.766688", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2015G>A", "protein_change": "p.Arg672Gln", "transcript_id": "NM_015662.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1449" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3041/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3041/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3041/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3041/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3041/?format=api" } }, { "type": "SmallVariant", "id": "3477", "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": 2.387e-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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.000196, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.10174, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27676378, "genomic_position_hg38": 27453511, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:26.759909", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.3824G>T", "protein_change": "p.Gly1275Val", "transcript_id": "NM_015662.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1654" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3477/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3477/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3477/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3477/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3477/?format=api" } }, { "type": "SmallVariant", "id": "3499", "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": 4.816e-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": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0003949, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.253938, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27676510, "genomic_position_hg38": 27453643, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:27.394816", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.3808A>C", "protein_change": "p.Lys1270Gln", "transcript_id": "NM_015662.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1665" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3499/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3499/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3499/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3499/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3499/?format=api" } }, { "type": "SmallVariant", "id": "3504", "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": 9.942e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 9.921e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 6.154e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0005553, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.233871, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 27702395, "genomic_position_hg38": 27479528, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:27.521873", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.986C>T", "protein_change": "p.Thr329Met", "transcript_id": "NM_015662.1", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1667" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3504/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3504/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3504/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3504/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3504/?format=api" } }, { "type": "SmallVariant", "id": "3692", "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": 4.13232, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 27682313, "genomic_position_hg38": 27459446, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:33.781889", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2719G>A", "protein_change": "p.Asp907Asn", "transcript_id": "NM_015662.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1741" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3692/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3692/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3692/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3692/gene/?format=api" }, "data": { "type": "Gene", "id": "IFT172" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3692/?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": 10 } }