Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SQSTM1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "43", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0101, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.00098, "gnomad_AFR_maf": 0.0002462, "gnomad_AMR_maf": 0.001272, "gnomad_ASJ_maf": 0.0001985, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0003696, "gnomad_NFE_maf": 0.001447, "gnomad_OTH_maf": 0.002443, "gnomad_SAS_maf": 0.000294, "ESP_AA_maf": 0.000227, "ESP_EA_maf": 0.002093 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.503945, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 179263445, "genomic_position_hg38": 179836445, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.776704", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1175C>T", "protein_change": "p.Pro392Leu", "transcript_id": "NM_003900.4", "dbsnp_id": "rs104893941", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI022" }, { "type": "Combination", "id": "OLI404" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/43/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/43/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/43/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/43/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/43/?format=api" } }, { "type": "SmallVariant", "id": "531", "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": 0.0002906, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002891, "gnomad_ASJ_maf": 0.0003972, "gnomad_EAS_maf": 5.44e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004228, "gnomad_OTH_maf": 0.0009785, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001047 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.950404, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 179251013, "genomic_position_hg38": 179824013, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.647832", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.457G>A", "protein_change": "p.Val153Ile", "transcript_id": "NM_003900.4", "dbsnp_id": "rs145056421", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI272" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/531/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/531/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/531/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/531/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/531/?format=api" } }, { "type": "SmallVariant", "id": "534", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0023, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.002816, "gnomad_AFR_maf": 0.001169, "gnomad_AMR_maf": 0.002949, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005548, "gnomad_NFE_maf": 0.003632, "gnomad_OTH_maf": 0.003584, "gnomad_SAS_maf": 0.004573, "ESP_AA_maf": 0.0009079, "ESP_EA_maf": 0.003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.443617, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179252184, "genomic_position_hg38": 179825184, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.665130", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.712A>G", "protein_change": "p.Lys238Glu", "transcript_id": "NM_003900.4", "dbsnp_id": "rs11548633", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1430" }, { "type": "Combination", "id": "OLI275" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/534/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/534/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/534/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/534/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/534/?format=api" } }, { "type": "SmallVariant", "id": "938", "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": 4.417e-05, "gnomad_AFR_maf": 6.234e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003283, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.672e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.276e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.025705, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 179260188, "genomic_position_hg38": 179833188, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.144454", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.911C>T", "protein_change": "p.Thr304Met", "transcript_id": "NM_003900.4", "dbsnp_id": "rs150926394", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI440" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/938/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/938/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/938/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/938/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/938/?format=api" } }, { "type": "SmallVariant", "id": "1378", "attributes": { "frequencies": { "KGP_genomes_maf": 0.009, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0239, "KGP_genomes_SAS_maf": 0.0164, "gnomad_maf": 0.01782, "gnomad_AFR_maf": 0.003938, "gnomad_AMR_maf": 0.008933, "gnomad_ASJ_maf": 0.04954, "gnomad_EAS_maf": 0.0004349, "gnomad_FIN_maf": 0.01746, "gnomad_NFE_maf": 0.02266, "gnomad_OTH_maf": 0.02005, "gnomad_SAS_maf": 0.01705, "ESP_AA_maf": 0.005674, "ESP_EA_maf": 0.02535 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.1773, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179260099, "genomic_position_hg38": 179833099, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.740304", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.822G>C", "protein_change": "p.Glu274Asp", "transcript_id": "NM_003900.4", "dbsnp_id": "rs55793208", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI633" }, { "type": "Combination", "id": "OLI636" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1378/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1378/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1378/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1378/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1378/?format=api" } }, { "type": "SmallVariant", "id": "1807", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 5.576e-05, "gnomad_AFR_maf": 6.153e-05, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.82e-06, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0002286, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.098486, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179263448, "genomic_position_hg38": 179836448, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.417837", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1178G>A", "protein_change": "p.Arg393Gln", "transcript_id": "NM_003900.4", "dbsnp_id": "rs200551825", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI823" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1807/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1807/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1807/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1807/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1807/?format=api" } }, { "type": "SmallVariant", "id": "1809", "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": 4.50945, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 179260782, "genomic_position_hg38": 179833782, "chromosome": "5", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.424339", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1165G>C", "protein_change": "p.Glu389Gln", "transcript_id": "NM_003900.4", "dbsnp_id": "rs1391182750", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI824" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1809/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1809/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1809/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1809/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1809/?format=api" } }, { "type": "SmallVariant", "id": "2058", "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": 5.782e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.759e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.193714, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179260076, "genomic_position_hg38": 179833076, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:52.975048", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.799C>T", "protein_change": "p.Arg267Cys", "transcript_id": "NM_003900", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI952" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2058/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2058/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2058/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2058/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2058/?format=api" } }, { "type": "SmallVariant", "id": "2926", "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": 0.000342, "gnomad_AFR_maf": 6.152e-05, "gnomad_AMR_maf": 0.002457, "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": 2.248127, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179260705, "genomic_position_hg38": 179833705, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.067397", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1088G>A", "protein_change": "p.Gly363Glu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1394" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2926/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2926/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2926/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2926/gene/?format=api" }, "data": { "type": "Gene", "id": "SQSTM1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2926/?format=api" } }, { "type": "SmallVariant", "id": "2938", "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": 3.187e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002176, "gnomad_FIN_maf": 9.306e-05, "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.401117, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179250930, "genomic_position_hg38": 179823930, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.140636", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.374A>G", "protein_change": "p.Asn125Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1400" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2938/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2938/combinations/?format=api" } }, "gene_name": { "links": { "self": 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