Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BBS12/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "344", "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": "4", "annotation_flag": "ambiguous_variant", "lastmodified": "2021-10-18T11:00:50.861976", "ref_allele": null, "alt_allele": null, "cdna_change": "c.1191A>G", "protein_change": "p.Lys408Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI173" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/344/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/344/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/344/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/344/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/344/?format=api" } }, { "type": "SmallVariant", "id": "155", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0044, "KGP_genomes_AFR_maf": 0.0166, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001595, "gnomad_AFR_maf": 0.01423, "gnomad_AMR_maf": 0.001854, "gnomad_ASJ_maf": 0.005892, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003207, "gnomad_OTH_maf": 0.001641, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.01158, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.186604, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 123663402, "genomic_position_hg38": 122742247, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.425834", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.355G>A", "protein_change": "p.Gly119Ser", "transcript_id": "NM_001178007.1", "dbsnp_id": "rs77731085", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI078" }, { "type": "Combination", "id": "OLI1128" }, { "type": "Combination", "id": "OLI142" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/155/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/155/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/155/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/155/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/155/?format=api" } }, { "type": "SmallVariant", "id": "156", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 4.774e-05, "gnomad_AFR_maf": 0.0006155, "gnomad_AMR_maf": 5.782e-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": 0.0004539, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.069369, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 123663834, "genomic_position_hg38": 122742679, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.432170", "ref_allele": "T", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Tyr263His", "transcript_id": null, "dbsnp_id": "rs150040166", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI078" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/156/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/156/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/156/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/156/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/156/?format=api" } }, { "type": "SmallVariant", "id": "160", "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": -0.071159, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 123664550, "genomic_position_hg38": 122743395, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.457008", "ref_allele": "G", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Thr501=", "transcript_id": null, "dbsnp_id": "rs750488316", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI079" }, { "type": "Combination", "id": "OLI1127" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/160/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/160/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/160/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/160/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/160/?format=api" } }, { "type": "SmallVariant", "id": "161", "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": 7.556e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0009923, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.638e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001633, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.260143, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 123664245, "genomic_position_hg38": 122743090, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.463234", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Val400Met", "transcript_id": null, "dbsnp_id": "rs771136797", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI080" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/161/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/161/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/161/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/161/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/161/?format=api" } }, { "type": "SmallVariant", "id": "162", "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": 1.221e-05, "gnomad_AFR_maf": 6.19e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.79e-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": 4.333567, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 123665067, "genomic_position_hg38": 122743912, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.469414", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg674Cys", "transcript_id": null, "dbsnp_id": "rs759088490", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI080" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/162/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/162/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/162/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/162/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/162/?format=api" } }, { "type": "SmallVariant", "id": "164", "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": 8.798e-06, "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": 0.889939, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 123664111, "genomic_position_hg38": 122742956, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.481842", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg355Gln", "transcript_id": null, "dbsnp_id": "rs1474900361", "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/164/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/164/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/164/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/164/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/164/?format=api" } }, { "type": "SmallVariant", "id": "174", "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": 3.977e-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": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 2.20045, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 123664483, "genomic_position_hg38": 122743328, "chromosome": "4", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.543768", "ref_allele": "TG", "alt_allele": "T", "cdna_change": "c.1438del", "protein_change": "p.Asp480MetfsTer3", "transcript_id": "NM_152618.3", "dbsnp_id": "rs759793696", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI086" }, { "type": "Combination", "id": "OLI1130" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/174/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/174/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/174/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/174/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/174/?format=api" } }, { "type": "SmallVariant", "id": "176", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 3.579e-05, "gnomad_AFR_maf": 0.0005536, "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": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.668629, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 123664549, "genomic_position_hg38": 122743394, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.556041", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Thr501Met", "transcript_id": null, "dbsnp_id": "rs138011813", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI087" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/176/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/176/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/176/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/176/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/176/?format=api" } }, { "type": "SmallVariant", "id": "177", "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": 1.193e-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": 2.638e-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": 2.842934, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 123664621, "genomic_position_hg38": 122743466, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.562203", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg525His", "transcript_id": null, "dbsnp_id": "rs776730549", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI087" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/177/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/177/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/177/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/177/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS12" } } }, 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