Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BBS4/variants/?format=api
{ "data": [ { "type": "CopyNumberVariant", "id": "1350", "attributes": { "status": "CU", "genomic_position_hg19": 73006570, "genomic_position_hg38": 72714229, "chromosome": "15", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.013731", "location": "exon5_6", "sequence": "exon5_6", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI614" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1350/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1350/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS4" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS4/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1350/?format=api" } }, { "type": "CopyNumberVariant", "id": "1351", "attributes": { "status": "CU", "genomic_position_hg19": 73006584, "genomic_position_hg38": 72714243, "chromosome": "15", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.043115", "location": "exon5_6", "sequence": "exon5_6", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI615" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1351/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1351/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS4" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS4/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1351/?format=api" } }, { "type": "SmallVariant", "id": "2439", "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": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "11", "annotation_flag": null, "lastmodified": "2022-08-04T14:15:38.753556", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.P425L", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1133" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2439/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2439/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2439/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2439/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2439/?format=api" } }, { "type": "SmallVariant", "id": "123", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0069, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0006725, "gnomad_AFR_maf": 0.0001846, "gnomad_AMR_maf": 0.0001445, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.007938, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.803e-05, "gnomad_OTH_maf": 0.0004891, "gnomad_SAS_maf": 6.533e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.480398, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73029268, "genomic_position_hg38": 72736927, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.251460", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Met472Val", "transcript_id": null, "dbsnp_id": "rs2277596", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI062" }, { "type": "Combination", "id": "OLI832" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/123/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/123/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/123/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/123/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/123/?format=api" } }, { "type": "SmallVariant", "id": "166", "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": 2.878731, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73004609, "genomic_position_hg38": 72712268, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.494095", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Glu61Lys", "transcript_id": null, "dbsnp_id": "rs1251827333", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI081" }, { "type": "Combination", "id": "OLI082" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/166/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/166/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/166/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/166/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/166/?format=api" } }, { "type": "SmallVariant", "id": "175", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "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": 0.0031, "gnomad_maf": 0.0005192, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.923e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.881e-06, "gnomad_OTH_maf": 0.0001646, "gnomad_SAS_maf": 0.004209, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.39646, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73029831, "genomic_position_hg38": 72737490, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.549959", "ref_allele": "C", "alt_allele": "A", "cdna_change": "None", "protein_change": "p.Thr488Lys", "transcript_id": "None", "dbsnp_id": "rs561284402", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI086" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/175/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/175/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/175/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/175/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/175/?format=api" } }, { "type": "SmallVariant", "id": "200", "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": 8.167e-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": 1.804e-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": 4.291479, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73009123, "genomic_position_hg38": 72716782, "chromosome": "15", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.696133", "ref_allele": "CT", "alt_allele": "C", "cdna_change": "c.341delT", "protein_change": "p.Leu114TrpfsTer28", "transcript_id": "NM_033028.5", "dbsnp_id": "rs750258633", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI097" }, { "type": "Combination", "id": "OLI1124" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/200/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/200/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/200/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/200/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/200/?format=api" } }, { "type": "SmallVariant", "id": "256", "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": 3.174797, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73029876, "genomic_position_hg38": 72737535, "chromosome": "15", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:42.036361", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1508C>T", "protein_change": "p.Pro503Leu", "transcript_id": "ENST00000268057.9", "dbsnp_id": "rs756419611", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI124" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/256/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/256/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/256/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/256/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/256/?format=api" } }, { "type": "SmallVariant", "id": "258", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0109, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.006868, "gnomad_AFR_maf": 0.001169, "gnomad_AMR_maf": 0.007227, "gnomad_ASJ_maf": 0.01082, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003249, "gnomad_NFE_maf": 0.01032, "gnomad_OTH_maf": 0.008969, "gnomad_SAS_maf": 0.001633, "ESP_AA_maf": 0.0009099, "ESP_EA_maf": 0.01024 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.588566, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73002101, "genomic_position_hg38": 72709760, "chromosome": "15", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:42.047857", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.137A>G", "protein_change": "p.Lys46Arg", "transcript_id": "NM_001320665.1", "dbsnp_id": "rs75295839", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI1116" }, { "type": "Combination", "id": "OLI1146" }, { "type": "Combination", "id": "OLI125" }, { "type": "Combination", "id": "OLI620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/258/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/258/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/258/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/258/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/258/?format=api" } }, { "type": "SmallVariant", "id": "632", "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": 7.967e-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": 1.762e-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": 3.390799, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73007744, "genomic_position_hg38": 72715403, "chromosome": "15", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.213495", "ref_allele": "G", "alt_allele": "GTT", "cdna_change": "c.332+2_332+3insTT", "protein_change": null, "transcript_id": "NM_033028.5", "dbsnp_id": "rs753360929", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI325" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/632/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/632/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/632/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/632/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/632/?format=api" } }, { "type": "SmallVariant", "id": "633", "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": 4.073944, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73027508, "genomic_position_hg38": 72735167, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.220116", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1091C>A", "protein_change": "p.Ala364Glu", "transcript_id": "NM_033028.4", "dbsnp_id": "rs28938468", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1229" }, { "type": "Combination", "id": "OLI325" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/633/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/633/combinations/?format=api" } }, "gene_name": { "links": { "self": 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