Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BBS10/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "154", "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": "12", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:47.708618", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Glu274ValfsTer29", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI078" }, { "type": "Combination", "id": "OLI1128" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/154/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/154/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/154/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/154/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/154/?format=api" } }, { "type": "SmallVariant", "id": "2425", "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": "12", "annotation_flag": null, "lastmodified": "2022-08-04T14:15:37.528638", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Val707TerfsTer1", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1125" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2425/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2425/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2425/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2425/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2425/?format=api" } }, { "type": "SmallVariant", "id": "153", "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": 4.301045, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76741975, "genomic_position_hg38": 76348195, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.419744", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Leu55Pro", "transcript_id": null, "dbsnp_id": "rs1460517643", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI078" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/153/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/153/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/153/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/153/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/153/?format=api" } }, { "type": "SmallVariant", "id": "157", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.200191, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76741202, "genomic_position_hg38": 76347422, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.438256", "ref_allele": "T", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Lys188Thr", "transcript_id": null, "dbsnp_id": "rs1239540905", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI079" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/157/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/157/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/157/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/157/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/157/?format=api" } }, { "type": "SmallVariant", "id": "158", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.823092, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76739858, "genomic_position_hg38": 76346078, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.444449", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Ala636Val", "transcript_id": null, "dbsnp_id": "rs113224628", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI079" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/158/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/158/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/158/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/158/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/158/?format=api" } }, { "type": "SmallVariant", "id": "167", "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": 2.816e-05, "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": 5.308e-05, "gnomad_OTH_maf": 0.0001651, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.461183, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76741492, "genomic_position_hg38": 76347712, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.500286", "ref_allele": "G", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Cys91Trp", "transcript_id": null, "dbsnp_id": "rs148374859", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI083" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/167/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/167/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/167/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/167/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/167/?format=api" } }, { "type": "SmallVariant", "id": "168", "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": 6.369e-05, "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": 0.0001409, "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": 4.193234, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76739644, "genomic_position_hg38": 76345864, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.506395", "ref_allele": "AAC", "alt_allele": "A", "cdna_change": "c.2119_2120del", "protein_change": "p.Val707Ter", "transcript_id": "NM_024685.4", "dbsnp_id": "rs775950661", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI083" }, { "type": "Combination", "id": "OLI619" }, { "type": "Combination", "id": "OLI621" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/168/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/168/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/168/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/168/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/168/?format=api" } }, { "type": "SmallVariant", "id": "170", "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": 0.000579, "gnomad_AFR_maf": 0.0003092, "gnomad_AMR_maf": 5.817e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.968e-05, "gnomad_NFE_maf": 0.001052, "gnomad_OTH_maf": 0.0008232, "gnomad_SAS_maf": 0.0003931, "ESP_AA_maf": 0.0007036, "ESP_EA_maf": 0.001212 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 4.432269, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76741493, "genomic_position_hg38": 76347713, "chromosome": "12", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.518831", "ref_allele": "C", "alt_allele": "CA", "cdna_change": "c.271dup", "protein_change": "p.Cys91LeufsTer5", "transcript_id": "NM_024685.4", "dbsnp_id": "rs549625604", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI084" }, { "type": "Combination", "id": "OLI085" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/170/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/170/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/170/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/170/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/170/?format=api" } }, { "type": "SmallVariant", "id": "171", "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": 3.987e-05, "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": 7.938e-05, "gnomad_OTH_maf": 0.0001635, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 5.306683, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76740088, "genomic_position_hg38": 76346308, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.525059", "ref_allele": "G", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Tyr559Ter", "transcript_id": null, "dbsnp_id": "rs375413604", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 0 }, "data": [], "links": { "self": "https://olida.ibsquare.be/api/variants/171/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/171/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/171/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/171/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/171/?format=api" } }, { "type": "SmallVariant", "id": "173", "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": 3.979e-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": 0.0001631, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.330937, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 76740535, "genomic_position_hg38": 76346755, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.537507", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.His410Gln", "transcript_id": null, "dbsnp_id": "rs1447555059", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI085" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/173/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/173/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/173/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/173/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS10" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/173/?format=api" } }, { "type": "SmallVariant", "id": "182", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 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