Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/KCNH2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2140", "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": null, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 150654583, "genomic_position_hg38": 150957495, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-14T12:50:52.103714", "ref_allele": "CATG", "alt_allele": "C", "cdna_change": "c.921_923del", "protein_change": "p.307_308del", "transcript_id": "NM_000238", "dbsnp_id": "NA", "variant_effect": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI985" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2140/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2140/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2140/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2140/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2140/?format=api" } }, { "type": "SmallVariant", "id": "196", "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": 5.44602, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 150645943, "genomic_position_hg38": 150948855, "chromosome": "7", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.672120", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2592+1G>A", "protein_change": null, "transcript_id": "NM_000238.4", "dbsnp_id": "rs1554424772", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI096" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/196/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/196/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/196/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/196/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/196/?format=api" } }, { "type": "SmallVariant", "id": "424", "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": 5.098702, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 150644471, "genomic_position_hg38": 150947383, "chromosome": "7", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:43.016476", "ref_allele": "G", "alt_allele": "GCCGAC", "cdna_change": "c.3092_3096dup", "protein_change": "p.Arg1033ValfsTer26", "transcript_id": "NM_000238.5", "dbsnp_id": "rs1554424083", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI218" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/424/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/424/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/424/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/424/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/424/?format=api" } }, { "type": "SmallVariant", "id": "793", "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": 7.833e-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": 2.13e-05, "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": 4.510743, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 150644883, "genomic_position_hg38": 150947795, "chromosome": "7", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.239388", "ref_allele": "G", "alt_allele": "GC", "cdna_change": "c.2775dup", "protein_change": "p.Pro926AlafsTer14", "transcript_id": "NM_000238.6", "dbsnp_id": "rs794728455", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI361" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/793/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/793/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/793/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/793/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/793/?format=api" } }, { "type": "SmallVariant", "id": "795", "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": 6.018e-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": 2.933e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0003248, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.068894, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 150644817, "genomic_position_hg38": 150947729, "chromosome": "7", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.252291", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2842C>T", "protein_change": "p.Arg948Cys", "transcript_id": "NM_000238.3", "dbsnp_id": "rs121912514", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI362" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/795/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/795/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/795/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/795/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/795/?format=api" } }, { "type": "SmallVariant", "id": "796", "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": "Benign", "cadd_prediction": 3.838964, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 150671808, "genomic_position_hg38": 150974720, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.258679", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.298C>G", "protein_change": "p.Arg100Gly", "transcript_id": "NM_000238.3", "dbsnp_id": "rs121912515", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI363" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/796/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/796/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/796/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/796/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/796/?format=api" } }, { "type": "SmallVariant", "id": "979", "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": 0.0003999, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002263, "gnomad_NFE_maf": 0.0007652, "gnomad_OTH_maf": 0.0002684, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.014584, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 150644921, "genomic_position_hg38": 150947833, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.390714", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Ala913Val", "transcript_id": null, "dbsnp_id": "rs77331749", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI459" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/979/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/979/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/979/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/979/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/979/?format=api" } }, { "type": "SmallVariant", "id": "1145", "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": 3.874244, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 150656809, "genomic_position_hg38": 150959721, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.403731", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.323G>A", "protein_change": "p.Cys108Tyr", "transcript_id": "NM_000238.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI549" }, { "type": "Combination", "id": "OLI550" }, { "type": "Combination", "id": "OLI551" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1145/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1145/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1145/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1145/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1145/?format=api" } }, { "type": "SmallVariant", "id": "1146", "attributes": { "frequencies": { "KGP_genomes_maf": 0.1362, "KGP_genomes_AFR_maf": 0.0068, "KGP_genomes_AMR_maf": 0.17, "KGP_genomes_EAS_maf": 0.0536, "KGP_genomes_EUR_maf": 0.2535, "KGP_genomes_SAS_maf": 0.2515, "gnomad_maf": 0.1812, "gnomad_AFR_maf": 0.03736, "gnomad_AMR_maf": 0.1136, "gnomad_ASJ_maf": 0.2039, "gnomad_EAS_maf": 0.04767, "gnomad_FIN_maf": 0.1649, "gnomad_NFE_maf": 0.2355, "gnomad_OTH_maf": 0.2072, "gnomad_SAS_maf": 0.2083, "ESP_AA_maf": 0.04517, "ESP_EA_maf": 0.2326 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.9241, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 150645534, "genomic_position_hg38": 150948446, "chromosome": "7", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.409953", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.2690A>C", "protein_change": "p.Lys897Thr", "transcript_id": "NM_000238.3", "dbsnp_id": "rs1805123", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI549" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1146/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1146/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1146/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1146/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1146/?format=api" } }, { "type": "SmallVariant", "id": "2591", "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": 2.365e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0001314, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.137e-05, "gnomad_OTH_maf": 0.0002564, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 4.34546, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 150644895, "genomic_position_hg38": 150947807, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.037887", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2764C>T", "protein_change": "p.Arg922Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1220" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2591/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2591/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2591/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2591/gene/?format=api" }, "data": { "type": "Gene", "id": "KCNH2" } } }, "links": { "self": 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