Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/CDH23/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "208", "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": 0.0004785, "gnomad_AFR_maf": 0.0001294, "gnomad_AMR_maf": 0.00113, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006575, "gnomad_OTH_maf": 0.0006627, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001178 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.067586, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73468926, "genomic_position_hg38": 71709169, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.744219", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg1060Trp", "transcript_id": null, "dbsnp_id": "rs201536811", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI100" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/208/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/208/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/208/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/208/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/208/?format=api" } }, { "type": "SmallVariant", "id": "217", "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": 2.81e-05, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.563e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.771e-05, "gnomad_OTH_maf": 0.0001652, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": 0.0002431, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.463448, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73571121, "genomic_position_hg38": 71811364, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.798636", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg3043Trp", "transcript_id": null, "dbsnp_id": "rs375907609", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI104" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/217/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/217/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/217/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/217/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/217/?format=api" } }, { "type": "SmallVariant", "id": "223", "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": 8.127e-06, "gnomad_AFR_maf": 6.653e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.977e-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": 4.012272, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73485263, "genomic_position_hg38": 71725506, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.835576", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg1189Trp", "transcript_id": null, "dbsnp_id": "rs745855338", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI107" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/223/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/223/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/223/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/223/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/223/?format=api" } }, { "type": "SmallVariant", "id": "508", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.012e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0005564, "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": "Damaging", "cadd_prediction": 4.125162, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73330641, "genomic_position_hg38": 71570884, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.527075", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.719C>T", "protein_change": "p.Pro240Leu", "transcript_id": "NM_001171930.1", "dbsnp_id": "rs121908354", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI261" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/508/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/508/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/508/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/508/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/508/?format=api" } }, { "type": "SmallVariant", "id": "510", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.006264, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0009968, "gnomad_EAS_maf": 5.564e-05, "gnomad_FIN_maf": 0.06328, "gnomad_NFE_maf": 0.001301, "gnomad_OTH_maf": 0.005962, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0004757 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.312428, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73461949, "genomic_position_hg38": 71702192, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.533094", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.2568C>G", "protein_change": "p.Ile856Met", "transcript_id": "NM_001171930.1", "dbsnp_id": "rs188498736", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI262" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/510/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/510/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/510/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/510/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/510/?format=api" } }, { "type": "SmallVariant", "id": "511", "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": 2.303583, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73553004, "genomic_position_hg38": 71793247, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.538933", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg2107Ter", "transcript_id": null, "dbsnp_id": "rs1306728898", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI263" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/511/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/511/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/511/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/511/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/511/?format=api" } }, { "type": "SmallVariant", "id": "518", "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": 3.878727, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73269881, "genomic_position_hg38": 71510124, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.579252", "ref_allele": "AC", "alt_allele": "A", "cdna_change": "c.193delC", "protein_change": "p.Leu65TrpfsTer49", "transcript_id": "NM_022124.6", "dbsnp_id": "rs796051861", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI265" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/518/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/518/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/518/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/518/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/518/?format=api" } }, { "type": "SmallVariant", "id": "520", "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": 1.614e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0003988, "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": "Damaging", "cadd_prediction": 4.153903, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73572579, "genomic_position_hg38": 71812822, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.590690", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.9565C>T", "protein_change": "p.Arg3189Trp", "transcript_id": "NM_022124.5", "dbsnp_id": "rs121908353", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI266" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/520/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/520/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/520/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/520/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/520/?format=api" } }, { "type": "SmallVariant", "id": "521", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0493, "KGP_genomes_AFR_maf": 0.174, "KGP_genomes_AMR_maf": 0.0231, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.01054, "gnomad_AFR_maf": 0.145, "gnomad_AMR_maf": 0.007681, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005107, "gnomad_NFE_maf": 0.0006292, "gnomad_OTH_maf": 0.005787, "gnomad_SAS_maf": 9.805e-05, "ESP_AA_maf": 0.1417, "ESP_EA_maf": 0.0005988 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.973061, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73490271, "genomic_position_hg38": 71730514, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.596404", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3625A>G", "protein_change": "p.Thr1209Ala", "transcript_id": "NM_001171930.1", "dbsnp_id": "rs41281314", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI267" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/521/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/521/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/521/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/521/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/521/?format=api" } }, { "type": "SmallVariant", "id": "658", "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": 0.0001858, "gnomad_AFR_maf": 6.505e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0008364, "gnomad_NFE_maf": 0.0002327, "gnomad_OTH_maf": 0.0001661, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003565 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.031407, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73472502, "genomic_position_hg38": 71712745, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.386462", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3301A>G", "protein_change": "p.Ile1101Val", "transcript_id": "NM_001171930.1", "dbsnp_id": "rs199510686", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI330" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/658/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/658/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/658/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/658/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/658/?format=api" } }, { "type": "SmallVariant", "id": "719", "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": 7.287e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 7.831e-05, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.139275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73553434, "genomic_position_hg38": 71793677, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.783022", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6712+37C>T", "protein_change": null, "transcript_id": "NM_022124.7", "dbsnp_id": "rs750966744", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI343" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/719/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/719/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/719/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/719/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/719/?format=api" } }, { "type": "SmallVariant", "id": "746", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.005, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005041, "gnomad_AFR_maf": 0.0001298, "gnomad_AMR_maf": 2.979e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.006275, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.581e-05, "gnomad_OTH_maf": 0.0001678, "gnomad_SAS_maf": 0.0001327, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.061483, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73405729, "genomic_position_hg38": 71645972, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.956207", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1282G>A", "protein_change": "p.Asp428Asn", "transcript_id": "NM_001171930.1", "dbsnp_id": "rs188376296", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI350" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/746/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/746/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/746/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/746/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/746/?format=api" } }, { "type": "SmallVariant", "id": "753", "attributes": { "frequencies": { "KGP_genomes_maf": 0.003, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0149, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001534, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.002389, "gnomad_EAS_maf": 0.01758, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.32e-05, "gnomad_OTH_maf": 0.001158, "gnomad_SAS_maf": 0.0009478, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001184 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.194216, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73570333, "genomic_position_hg38": 71810576, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.001634", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.9077+7C>T", "protein_change": null, "transcript_id": "NM_022124.6", "dbsnp_id": "rs76114420", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI351" }, { "type": "Combination", "id": "OLI352" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/753/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/753/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/753/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/753/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/753/?format=api" } }, { "type": "SmallVariant", "id": "758", "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": 4.012e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.564e-05, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.153802, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73498239, "genomic_position_hg38": 71738482, "chromosome": "10", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.033463", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.4210-16C>A", "protein_change": null, "transcript_id": "NM_022124.5", "dbsnp_id": "rs775928557", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI352" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/758/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/758/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/758/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/758/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/758/?format=api" } }, { "type": "SmallVariant", "id": "1055", "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": "Damaging", "cadd_prediction": 3.435204, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73544808, "genomic_position_hg38": 71785051, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.849673", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.5663T>C", "protein_change": "p.Phe1888Ser", "transcript_id": "NM_022124.5", "dbsnp_id": "rs121908352", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI497" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1055/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1055/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1055/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1055/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1055/?format=api" } }, { "type": "SmallVariant", "id": "1284", "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": 6.263106, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73559034, "genomic_position_hg38": 71799277, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.213836", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.7221C>A", "protein_change": "p.Tyr2407Ter", "transcript_id": "NM_022124.5", "dbsnp_id": "rs779038178", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI600" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1284/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1284/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1284/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1284/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1284/?format=api" } }, { "type": "SmallVariant", "id": "2234", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002933, "gnomad_AFR_maf": 0.001226, "gnomad_AMR_maf": 0.001361, "gnomad_ASJ_maf": 9.936e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.001996, "gnomad_NFE_maf": 0.005318, "gnomad_OTH_maf": 0.003304, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0009333, "ESP_EA_maf": 0.004733 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.837978, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73491873, "genomic_position_hg38": 71732116, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.030290", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.3845A>G", "protein_change": "p.Asn1282Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1033" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2234/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2234/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2234/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2234/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2234/?format=api" } }, { "type": "SmallVariant", "id": "2240", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.821e-05, "gnomad_AFR_maf": 6.455e-05, "gnomad_AMR_maf": 0.0001738, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.438e-05, "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": 2.041123, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73553197, "genomic_position_hg38": 71793440, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.067199", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.6512G>A", "protein_change": "p.Arg2176His", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1036" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2240/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2240/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2240/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2240/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2240/?format=api" } }, { "type": "SmallVariant", "id": "2390", "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": 6.865e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001117, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.954e-06, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0004576, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.482558, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73464723, "genomic_position_hg38": 71704966, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.976968", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2789C>T", "protein_change": "p.Pro930Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1100" }, { "type": "Combination", "id": "OLI1102" }, { "type": "Combination", "id": "OLI1103" }, { "type": "Combination", "id": "OLI1104" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2390/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2390/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2390/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2390/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2390/?format=api" } }, { "type": "SmallVariant", "id": "2870", "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": 0.0004785, "gnomad_AFR_maf": 0.0001294, "gnomad_AMR_maf": 0.00113, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0006575, "gnomad_OTH_maf": 0.0006627, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.067586, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73468926, "genomic_position_hg38": 71709169, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.740917", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3178C>T", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1370" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2870/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2870/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2870/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2870/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2870/?format=api" } }, { "type": "SmallVariant", "id": "3543", "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": 1.968643, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73563139, "genomic_position_hg38": 71803382, "chromosome": "10", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.810824", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.7834G>T", "protein_change": "p.Val2612Leu", "transcript_id": "NM_022124.6", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1680" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3543/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3543/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3543/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3543/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3543/?format=api" } }, { "type": "SmallVariant", "id": "3551", "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": 2.331392, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73559375, "genomic_position_hg38": 71799618, "chromosome": "10", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:29.042198", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.7351A>G", "protein_change": "p.Asn2451Asp", "transcript_id": "NM_022124.6", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1682" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3551/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3551/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3551/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3551/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3551/?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": 22 } }