Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/TTC8/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "117", "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": 2.243788, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89310157, "genomic_position_hg38": 88843813, "chromosome": "14", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.215323", "ref_allele": "TTGAGTA", "alt_allele": "T", "cdna_change": "c.589_594del", "protein_change": "p.187_188delGluTyr", "transcript_id": "NM_144596.4", "dbsnp_id": "rs587777806", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI059" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/117/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/117/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/117/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/117/gene/?format=api" }, "data": { "type": "Gene", "id": "TTC8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/117/?format=api" } }, { "type": "SmallVariant", "id": "289", "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": 2.795706, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89336504, "genomic_position_hg38": 88870160, "chromosome": "14", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:42.225705", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1011C>G", "protein_change": "p.Phe337Leu", "transcript_id": "NM_144596.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI140" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/289/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/289/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/289/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/289/gene/?format=api" }, "data": { "type": "Gene", "id": "TTC8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/289/?format=api" } }, { "type": "SmallVariant", "id": "296", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.245611, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89307456, "genomic_position_hg38": 88841112, "chromosome": "14", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:42.268029", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.405G>A", "protein_change": "p.Met135Ile", "transcript_id": "NM_144596.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI145" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/296/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/296/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/296/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/296/gene/?format=api" }, "data": { "type": "Gene", "id": "TTC8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/296/?format=api" } }, { "type": "SmallVariant", "id": "297", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0072, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.008, "KGP_genomes_SAS_maf": 0.0276, "gnomad_maf": 0.005369, "gnomad_AFR_maf": 0.0004922, "gnomad_AMR_maf": 0.003273, "gnomad_ASJ_maf": 0.001092, "gnomad_EAS_maf": 5.438e-05, "gnomad_FIN_maf": 0.0006007, "gnomad_NFE_maf": 0.004119, "gnomad_OTH_maf": 0.005225, "gnomad_SAS_maf": 0.02296, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.004535 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.035443, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89307227, "genomic_position_hg38": 88840883, "chromosome": "14", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:42.274029", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.284A>G", "protein_change": "p.Lys95Arg", "transcript_id": "NM_144596.4", "dbsnp_id": "rs150880478", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI146" }, { "type": "Combination", "id": "OLI325" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/297/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/297/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/297/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/297/gene/?format=api" }, "data": { "type": "Gene", "id": "TTC8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/297/?format=api" } }, { "type": "SmallVariant", "id": "1368", "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": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002884, "gnomad_AFR_maf": 0.0002461, "gnomad_AMR_maf": 0.0001735, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.00924, "gnomad_NFE_maf": 0.004389, "gnomad_OTH_maf": 0.002608, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0006809, "ESP_EA_maf": 0.002791 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.735023, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89338702, "genomic_position_hg38": 88872358, "chromosome": "14", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.687135", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1253A>G", "protein_change": "p.Gln418Arg", "transcript_id": "NM_144596.4", "dbsnp_id": "rs142938748", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI623" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1368/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1368/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1368/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1368/gene/?format=api" }, "data": { "type": "Gene", "id": "TTC8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1368/?format=api" } }, { "type": "SmallVariant", "id": "2468", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.486007, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 89336412, "genomic_position_hg38": 88870068, "chromosome": "14", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.434690", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.889A>G", "protein_change": "p.Asn297Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1146" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2468/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2468/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2468/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2468/gene/?format=api" }, "data": { "type": "Gene", "id": "TTC8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2468/?format=api" } }, { "type": "SmallVariant", "id": "3491", "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": 4.304821, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 89323567, "genomic_position_hg38": 88857223, "chromosome": "14", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:27.175149", "ref_allele": "TA", "alt_allele": "T", "cdna_change": "c.717del", "protein_change": "p.Lys239AsnfsTer4", "transcript_id": "NM_198309.2", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1661" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3491/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3491/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3491/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3491/gene/?format=api" }, "data": { "type": "Gene", "id": "TTC8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3491/?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 } }