Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/DUOX2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "68", "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": 3.163831, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45400988, "genomic_position_hg38": 45108790, "chromosome": "15", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:40.924551", "ref_allele": "TGG", "alt_allele": "T", "cdna_change": "c.1395_1396delCC", "protein_change": "p.Gln466GlyfsTer49", "transcript_id": "NM_014080.4", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI031" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/68/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/68/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/68/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/68/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/68/?format=api" } }, { "type": "SmallVariant", "id": "69", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001948, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.002446, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.637e-05, "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": "Possibly Damaging", "cadd_prediction": 4.25728, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45391946, "genomic_position_hg38": 45099748, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.930714", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.3329G>A", "protein_change": "p.Arg1110Gln", "transcript_id": "NM_014080.4", "dbsnp_id": "rs368488511", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 8 }, "data": [ { "type": "Combination", "id": "OLI032" }, { "type": "Combination", "id": "OLI473" }, { "type": "Combination", "id": "OLI1077" }, { "type": "Combination", "id": "OLI1078" }, { "type": "Combination", "id": "OLI1484" }, { "type": "Combination", "id": "OLI1496" }, { "type": "Combination", "id": "OLI1497" }, { "type": "Combination", "id": "OLI1805" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/69/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/69/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/69/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/69/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/69/?format=api" } }, { "type": "SmallVariant", "id": "84", "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": 6.76e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002024, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.033e-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": 7.226648, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45401085, "genomic_position_hg38": 45108887, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.024246", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1300C>T", "protein_change": "p.Arg434Ter", "transcript_id": "NM_014080.4", "dbsnp_id": "rs119472026", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI040" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/84/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/84/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/84/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/84/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/84/?format=api" } }, { "type": "SmallVariant", "id": "996", "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": 0.0002942, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003985, "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": "Benign", "cadd_prediction": 3.731805, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45396563, "genomic_position_hg38": 45104365, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.487626", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Val779Met", "transcript_id": null, "dbsnp_id": "rs145061993", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI465" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/996/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/996/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/996/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/996/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/996/?format=api" } }, { "type": "SmallVariant", "id": "1002", "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": 1.989e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001631, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.050849, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45389889, "genomic_position_hg38": 45097691, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.524571", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Ala1206Thr", "transcript_id": null, "dbsnp_id": "rs762588205", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI467" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1002/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1002/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1002/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1002/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1002/?format=api" } }, { "type": "SmallVariant", "id": "1005", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000676, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.009188, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.547134, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45399648, "genomic_position_hg38": 45107450, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.542761", "ref_allele": "T", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Lys530Ter", "transcript_id": null, "dbsnp_id": "rs180671269", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI468" }, { "type": "Combination", "id": "OLI562" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1005/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1005/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1005/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1005/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1005/?format=api" } }, { "type": "SmallVariant", "id": "1011", "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": 3.376149, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45404068, "genomic_position_hg38": 45111870, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.578958", "ref_allele": "G", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Asp137Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI470" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1011/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1011/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1011/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1011/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1011/?format=api" } }, { "type": "SmallVariant", "id": "1012", "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": 6.76e-05, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.000598, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.758e-05, "gnomad_OTH_maf": 0.000163, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.29153, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45401090, "genomic_position_hg38": 45108892, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.585124", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg432His", "transcript_id": null, "dbsnp_id": "rs530736554", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI470" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1012/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1012/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1012/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1012/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1012/?format=api" } }, { "type": "SmallVariant", "id": "1018", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0004056, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.005328, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.637e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 6.625395, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45396158, "genomic_position_hg38": 45103960, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.620975", "ref_allele": "C", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg885Leu", "transcript_id": null, "dbsnp_id": "rs181461079", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI473" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1018/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1018/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1018/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1018/gene/?format=api" }, "data": { "type": "Gene", "id": "DUOX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1018/?format=api" } }, { "type": "SmallVariant", "id": "1020", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0001034, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001413, "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": 5.632729, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 45389811, "genomic_position_hg38": 45097613, "chromosome": "15", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.633323", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.3693+1G>T", "protein_change": null, "transcript_id": "NM_014080.4", "dbsnp_id": "rs200717240", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI474" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1020/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1020/combinations/?format=api" } }, "gene_name": { "links": { "self": 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