Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI604/variants/?format=api
https://olida.ibsquare.be/api/variants/1312/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1312/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1312/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1312/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1312/?format=api" } }, { "type": "SmallVariant", "id": "1316", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0076, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0065, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003292, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0006037, "gnomad_ASJ_maf": 0.01437, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004766, "gnomad_NFE_maf": 0.00509, "gnomad_OTH_maf": 0.001749, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.400445, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 149680355, "genomic_position_hg38": 150512085, "chromosome": "X", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:48.417106", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.*126C>T", "protein_change": null, "transcript_id": "NM_005491", "dbsnp_id": "rs147056898", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1316/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1316/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1316/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1316/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1316/?format=api" } }, { "type": "SmallVariant", "id": "1317", "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": 0.000158, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001458, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002685, "gnomad_OTH_maf": 0.0006618, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0002608, "ESP_EA_maf": 0.0004459 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.01233, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 119708447, "genomic_position_hg38": 120574592, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.424788", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.26G>A", "protein_change": "p.Gly9Glu", "transcript_id": "NM_003588.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1317/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1317/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1317/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1317/gene/?format=api" }, "data": { "type": "Gene", "id": "CUL4B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1317/?format=api" } }, { "type": "SmallVariant", "id": "1318", "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": 4.013e-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": 0.0, "gnomad_OTH_maf": 0.0001653, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.307763, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 90321476, "genomic_position_hg38": 87706561, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.432054", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3490G>A", "protein_change": "p.Asp1164Asn", "transcript_id": "NM_001288729.1", "dbsnp_id": "rs937952689", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1318/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1318/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1318/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1318/gene/?format=api" }, "data": { "type": "Gene", "id": "DAPK1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1318/?format=api" } }, { "type": "SmallVariant", "id": "1319", "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": 4.004e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.892e-05, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.306603, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 119305133, "genomic_position_hg38": 117545622, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.439319", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.407-10C>T", "protein_change": null, "transcript_id": "NM_004098.3", "dbsnp_id": "rs1352994158", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1319/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1319/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1319/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1319/gene/?format=api" }, "data": { "type": "Gene", "id": "EMX2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1319/?format=api" } }, { "type": "SmallVariant", "id": "1320", "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": 4.470818, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 39454886, "genomic_position_hg38": 38880749, "chromosome": "13", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.446370", "ref_allele": "C", "alt_allele": "CC", "cdna_change": "c.9472dupC", "protein_change": "p.Gln3160ThrfsTer6", "transcript_id": "NM_207361.5", "dbsnp_id": "rs1566177559", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1320/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1320/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1320/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1320/gene/?format=api" }, "data": { "type": "Gene", "id": "FREM2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1320/?format=api" } }, { "type": "SmallVariant", "id": "1321", "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": 2.861568, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 217526593, "genomic_position_hg38": 216661870, "chromosome": "2", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:48.453471", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.685C>A", "protein_change": "p.Gln229Lys", "transcript_id": "NM_000597.3", "dbsnp_id": "rs1480776846", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1321/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1321/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1321/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1321/gene/?format=api" }, "data": { "type": "Gene", "id": "IGFBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1321/?format=api" } }, { "type": "SmallVariant", "id": "1322", "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": 0.000173, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001158, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001891, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.673e-05, "gnomad_OTH_maf": 0.0001653, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.531595, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 95826575, "genomic_position_hg38": 96093411, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.460624", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.620G>A", "protein_change": "p.Arg207His", "transcript_id": "NM_032427.3", "dbsnp_id": "rs191391876", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1322/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1322/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1322/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1322/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1322/?format=api" } }, { "type": "SmallVariant", "id": "1323", "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": 0.379844, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 76883787, "genomic_position_hg38": 77172741, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.467750", "ref_allele": "CC", "alt_allele": "AT", "cdna_change": "c.1798-7_1798-6delCCinsAT", "protein_change": null, "transcript_id": "NM_000260", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1323/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1323/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1323/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1323/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1323/?format=api" } }, { "type": "SmallVariant", "id": "1324", "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": 4.156489, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 76883790, "genomic_position_hg38": 77172744, "chromosome": "11", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.474887", "ref_allele": "CCAGGGCG", "alt_allele": "GGCTGCT", "cdna_change": "c.1798-4_1801delCCAGGGCGinsGGCTGCT", "protein_change": null, "transcript_id": "NM_000260", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1324/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1324/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1324/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1324/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1324/?format=api" } }, { "type": "SmallVariant", "id": "1325", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001699, "gnomad_AFR_maf": 0.0005619, "gnomad_AMR_maf": 0.001919, "gnomad_ASJ_maf": 0.0005129, "gnomad_EAS_maf": 0.0001716, "gnomad_FIN_maf": 0.001614, "gnomad_NFE_maf": 0.002567, "gnomad_OTH_maf": 0.002793, "gnomad_SAS_maf": 9.965e-05, "ESP_AA_maf": 0.0004946, "ESP_EA_maf": 0.003236 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.700692, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 139405111, "genomic_position_hg38": 136510659, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.482012", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2734C>T", "protein_change": "p.Arg912Trp", "transcript_id": "NM_017617.4", "dbsnp_id": "rs201620358", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": 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