Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/OPTN/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "791", "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": "10", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:58.204813", "ref_allele": null, "alt_allele": null, "cdna_change": "c.1243-740_1612+1292delins25", "protein_change": "p.Gly538GlufsTer27", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI360" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/791/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/791/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/791/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/791/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/791/?format=api" } }, { "type": "SmallVariant", "id": "922", "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": 3.268683, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 13178831, "genomic_position_hg38": 13136831, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.040385", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1699A>G", "protein_change": "p.Thr567Ala", "transcript_id": "NM_021980.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI431" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/922/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/922/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/922/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/922/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/922/?format=api" } }, { "type": "SmallVariant", "id": "930", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0076, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0347, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.003103, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003469, "gnomad_ASJ_maf": 0.004366, "gnomad_EAS_maf": 0.03453, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002551, "gnomad_OTH_maf": 0.002444, "gnomad_SAS_maf": 0.00147, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.906458, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13178766, "genomic_position_hg38": 13136766, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:46.092515", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1634G>A", "protein_change": "p.Arg545Gln", "transcript_id": "NM_021980.4", "dbsnp_id": "rs75654767", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 5 }, "data": [ { "type": "Combination", "id": "OLI435" }, { "type": "Combination", "id": "OLI436" }, { "type": "Combination", "id": "OLI437" }, { "type": "Combination", "id": "OLI439" }, { "type": "Combination", "id": "OLI442" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/930/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/930/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/930/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/930/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/930/?format=api" } }, { "type": "SmallVariant", "id": "1171", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": 0.9773, "KGP_genomes_AMR_maf": 0.9971, "KGP_genomes_EAS_maf": 1.0, "KGP_genomes_EUR_maf": 0.999, "KGP_genomes_SAS_maf": 1.0, "gnomad_maf": 0.9975, "gnomad_AFR_maf": 0.9781, "gnomad_AMR_maf": 0.9988, "gnomad_ASJ_maf": 0.9873, "gnomad_EAS_maf": 1.0, "gnomad_FIN_maf": 0.9999, "gnomad_NFE_maf": 0.9994, "gnomad_OTH_maf": 0.9972, "gnomad_SAS_maf": 0.9994, "ESP_AA_maf": 0.9746, "ESP_EA_maf": 0.9988 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.870379, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13166076, "genomic_position_hg38": 13124076, "chromosome": "10", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:47.567196", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.964A>G", "protein_change": "p.Lys322Glu", "transcript_id": "NM_021980.4", "dbsnp_id": "rs523747", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI561" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1171/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1171/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1171/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1171/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1171/?format=api" } }, { "type": "SmallVariant", "id": "1224", "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": 7.954e-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": 1.759e-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": "Damaging", "cadd_prediction": 4.692988, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 13174068, "genomic_position_hg38": 13132068, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:47.879836", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1403T>G", "protein_change": "p.Met468Arg", "transcript_id": "NM_001008211.1", "dbsnp_id": "rs747481280", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI578" }, { "type": "Combination", "id": "OLI579" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1224/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1224/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1224/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1224/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1224/?format=api" } }, { "type": "SmallVariant", "id": "1375", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0787, "KGP_genomes_AFR_maf": 0.1301, "KGP_genomes_AMR_maf": 0.0259, "KGP_genomes_EAS_maf": 0.1359, "KGP_genomes_EUR_maf": 0.0308, "KGP_genomes_SAS_maf": 0.0368, "gnomad_maf": 0.04422, "gnomad_AFR_maf": 0.1196, "gnomad_AMR_maf": 0.01984, "gnomad_ASJ_maf": 0.07273, "gnomad_EAS_maf": 0.1257, "gnomad_FIN_maf": 0.02569, "gnomad_NFE_maf": 0.02796, "gnomad_OTH_maf": 0.04371, "gnomad_SAS_maf": 0.0471, "ESP_AA_maf": 0.1176, "ESP_EA_maf": 0.03221 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.770013, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13152400, "genomic_position_hg38": 13110400, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.722900", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.293T>A", "protein_change": "p.Met98Lys", "transcript_id": "NM_001008211.1", "dbsnp_id": "rs11258194", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI629" }, { "type": "Combination", "id": "OLI631" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1375/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1375/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1375/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1375/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1375/?format=api" } }, { "type": "SmallVariant", "id": "1376", "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": 2.386e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.619e-05, "gnomad_NFE_maf": 4.395e-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": 2.482099, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13154559, "genomic_position_hg38": 13112559, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.728682", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.476G>T", "protein_change": "p.Gly159Val", "transcript_id": "NM_001008211.1", "dbsnp_id": "rs563413263", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI630" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1376/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1376/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1376/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1376/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1376/?format=api" } }, { "type": "SmallVariant", "id": "1387", "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": "Possibly Damaging", "cadd_prediction": 3.553264, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13168020, "genomic_position_hg38": 13126020, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.799553", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.1223A>C", "protein_change": "p.Glu408Ala", "transcript_id": "NM_001008211.1", "dbsnp_id": "rs1229227887", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI641" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1387/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1387/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1387/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1387/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1387/?format=api" } }, { "type": "SmallVariant", "id": "1393", "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": 0.0001513, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.687e-05, "gnomad_ASJ_maf": 9.93e-05, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002992, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.258167, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 13166053, "genomic_position_hg38": 13124053, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.840781", "ref_allele": "A", "alt_allele": "T", "cdna_change": "c.491A>Y", "protein_change": "p.Gln314Leu", "transcript_id": null, "dbsnp_id": "rs142812715", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI644" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1393/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1393/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1393/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1393/gene/?format=api" }, "data": { "type": "Gene", "id": "OPTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1393/?format=api" } }, { "type": "SmallVariant", "id": "1436", "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": 2.386e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.674e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.421725, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 13175557, "genomic_position_hg38": 13133557, "chromosome": "10", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.132002", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1588C>A", "protein_change": "p.Gln530Lys", "transcript_id": "NM_001008211.1", "dbsnp_id": "rs759605171", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI662" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1436/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1436/combinations/?format=api" } }, "gene_name": { "links": { "self": 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