Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BBS1/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "129", "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": "11", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:47.287796", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Leu548fsTer579", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI066" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/129/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/129/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/129/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/129/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/129/?format=api" } }, { "type": "SmallVariant", "id": "181", "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": "11", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:48.117477", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Met242ArgfsTer83", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI088" }, { "type": "Combination", "id": "OLI1118" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/181/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/181/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/181/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/181/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/181/?format=api" } }, { "type": "CopyNumberVariant", "id": "1358", "attributes": { "status": "CU", "genomic_position_hg19": 66274840, "genomic_position_hg38": 66507369, "chromosome": "11", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.145206", "location": "exon1_11", "sequence": "exon1_11", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1358/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1358/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS1" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS1/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1358/?format=api" } }, { "type": "CopyNumberVariant", "id": "1359", "attributes": { "status": "CU", "genomic_position_hg19": 66290130, "genomic_position_hg38": 66522659, "chromosome": "11", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.189885", "location": "exon10_17", "sequence": "exon10_17", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI618" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1359/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1359/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS1" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS1/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1359/?format=api" } }, { "type": "CopyNumberVariant", "id": "1360", "attributes": { "status": "CU", "genomic_position_hg19": 66296361, "genomic_position_hg38": 66528890, "chromosome": "11", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.220949", "location": "exon14_17", "sequence": "exon14_17", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI619" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1360/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1360/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS1" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS1/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1360/?format=api" } }, { "type": "SmallVariant", "id": "2416", "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": "11", "annotation_flag": null, "lastmodified": "2022-08-04T14:15:36.826551", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Leu505ProfsTer52", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1120" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2416/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2416/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2416/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2416/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2416/?format=api" } }, { "type": "SmallVariant", "id": "79", "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": 4.989986, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66282056, "genomic_position_hg38": 66514585, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.993255", "ref_allele": "T", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Tyr113Ter", "transcript_id": null, "dbsnp_id": "rs754412005", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI037" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/79/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/79/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/79/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/79/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/79/?format=api" } }, { "type": "SmallVariant", "id": "80", "attributes": { "frequencies": { "KGP_genomes_maf": 0.001, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001512, "gnomad_AFR_maf": 0.0004921, "gnomad_AMR_maf": 0.0008385, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0009241, "gnomad_NFE_maf": 0.002762, "gnomad_OTH_maf": 0.001468, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0006818, "ESP_EA_maf": 0.002678 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.720893, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66293652, "genomic_position_hg38": 66526181, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.999396", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.1169T>G", "protein_change": "p.Met390Arg", "transcript_id": "NM_024649.4", "dbsnp_id": "rs113624356", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 16 }, "data": [ { "type": "Combination", "id": "OLI037" }, { "type": "Combination", "id": "OLI038" }, { "type": "Combination", "id": "OLI039" }, { "type": "Combination", "id": "OLI062" }, { "type": "Combination", "id": "OLI063" }, { "type": "Combination", "id": "OLI064" }, { "type": "Combination", "id": "OLI065" }, { "type": "Combination", "id": "OLI066" }, { "type": "Combination", "id": "OLI088" }, { "type": "Combination", "id": "OLI141" }, { "type": "Combination", "id": "OLI417" }, { "type": "Combination", "id": "OLI618" }, { "type": "Combination", "id": "OLI619" }, { "type": "Combination", "id": "OLI1116" }, { "type": "Combination", "id": "OLI1118" }, { "type": "Combination", "id": "OLI1120" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/80/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/80/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/80/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/80/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/80/?format=api" } }, { "type": "SmallVariant", "id": "82", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 1.591e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 8.675e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 8.561005, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66299163, "genomic_position_hg38": 66531692, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.011861", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1645G>T", "protein_change": "p.Glu549Ter", "transcript_id": "NM_024649.4", "dbsnp_id": "rs121917777", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI038" }, { "type": "Combination", "id": "OLI139" }, { "type": "Combination", "id": "OLI141" }, { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/82/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/82/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/82/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/82/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/82/?format=api" } }, { "type": "SmallVariant", "id": "121", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0283, "KGP_genomes_AFR_maf": 0.1036, "KGP_genomes_AMR_maf": 0.0072, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.007676, "gnomad_AFR_maf": 0.1052, "gnomad_AMR_maf": 0.004743, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002641, "gnomad_OTH_maf": 0.003422, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.09955, "ESP_EA_maf": 0.0005821 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.093243, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 66287196, "genomic_position_hg38": 66519725, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.239239", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Glu234Lys", "transcript_id": null, "dbsnp_id": "rs35520756", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI061" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/121/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/121/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/121/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/121/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/121/?format=api" } }, { "type": "SmallVariant", "id": "124", "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": 7.251595, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 66290967, "genomic_position_hg38": 66523496, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.257530", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Gln291Ter", "transcript_id": null, "dbsnp_id": "rs1057517143", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI063" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/124/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/124/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/124/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/124/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/124/?format=api" } }, { "type": "SmallVariant", "id": "159", "attributes": { "frequencies": { "KGP_genomes_maf": null, "KGP_genomes_AFR_maf": null, "KGP_genomes_AMR_maf": 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