Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BBS7/variants/?format=api
{ "data": [ { "type": "CopyNumberVariant", "id": "1363", "attributes": { "status": "CU", "genomic_position_hg19": 122749644, "genomic_position_hg38": 121828489, "chromosome": "4", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:08.259685", "location": "exon16_17", "sequence": "exon16_17", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1363/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1363/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "BBS7" }, "links": { "related": "https://olida.ibsquare.be/api/genes/BBS7/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1363/?format=api" } }, { "type": "SmallVariant", "id": "122", "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": 7.958e-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": 8.799e-06, "gnomad_OTH_maf": 0.0001632, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.987656, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122775945, "genomic_position_hg38": 121854790, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.245382", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.632C>T", "protein_change": "p.Thr211Ile", "transcript_id": "NM_176824.2", "dbsnp_id": "rs119466002", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI061" }, { "type": "Combination", "id": "OLI146" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/122/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/122/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/122/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/122/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/122/?format=api" } }, { "type": "SmallVariant", "id": "198", "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": 1.991e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.895e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.522e-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": 3.839615, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122782813, "genomic_position_hg38": 121861658, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.684063", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.187G>A", "protein_change": "p.Gly63Arg", "transcript_id": "NM_176824.2", "dbsnp_id": "rs754579374", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI097" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/198/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/198/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/198/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/198/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/198/?format=api" } }, { "type": "SmallVariant", "id": "199", "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": 5.407747, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122776642, "genomic_position_hg38": 121855487, "chromosome": "4", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.690069", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.601+2T>C", "protein_change": "p.Gly201_Asp202ins15or16", "transcript_id": "NM_176824.3", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI097" }, { "type": "Combination", "id": "OLI1124" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/199/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/199/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/199/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/199/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/199/?format=api" } }, { "type": "SmallVariant", "id": "201", "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": 0.0009489, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0004055, "gnomad_ASJ_maf": 0.01837, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0002733, "gnomad_OTH_maf": 0.001308, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001163 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.71822, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 122782829, "genomic_position_hg38": 121861674, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:41.702163", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.171G>A", "protein_change": "p.Val57=", "transcript_id": "NM_176824.2", "dbsnp_id": "rs144525608", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI098" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/201/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/201/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/201/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/201/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/201/?format=api" } }, { "type": "SmallVariant", "id": "1357", "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": "Damaging", "cadd_prediction": 3.046155, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 122780233, "genomic_position_hg38": 121859078, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.652428", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.442A>C", "protein_change": "p.Asn148His", "transcript_id": "NM_176824.2", "dbsnp_id": "rs982037757", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI617" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1357/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1357/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1357/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1357/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1357/?format=api" } }, { "type": "SmallVariant", "id": "1361", "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": 3.981e-06, "gnomad_AFR_maf": 6.152e-05, "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": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.25974, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122770055, "genomic_position_hg38": 121848900, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.658160", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.878A>C", "protein_change": "p.Gln293Pro", "transcript_id": "NM_176824.2", "dbsnp_id": "rs889417696", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI620" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1361/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1361/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1361/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1361/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1361/?format=api" } }, { "type": "SmallVariant", "id": "1365", "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": 3.852421, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122789149, "genomic_position_hg38": 121867994, "chromosome": "4", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:48.669567", "ref_allele": "CTG", "alt_allele": "C", "cdna_change": "c.87_88delCA", "protein_change": "p.His29GlnfsTer12", "transcript_id": "NM_176824.3", "dbsnp_id": "rs1578577361", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI622" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1365/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1365/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1365/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1365/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1365/?format=api" } }, { "type": "SmallVariant", "id": "2423", "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": 1.991e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.895e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.522e-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": 3.839615, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122782813, "genomic_position_hg38": 121861658, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.175935", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.187G>A", "protein_change": "p.Gly63Arg", "transcript_id": "NM_176824.3", "dbsnp_id": "rs754579374", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1124" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2423/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2423/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2423/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2423/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2423/?format=api" } }, { "type": "SmallVariant", "id": "3030", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001489, "gnomad_AFR_maf": 0.0005668, "gnomad_AMR_maf": 0.001045, "gnomad_ASJ_maf": 0.004411, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.713e-05, "gnomad_NFE_maf": 0.002408, "gnomad_OTH_maf": 0.0008875, "gnomad_SAS_maf": 0.0003956, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.197742, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 122765152, "genomic_position_hg38": 121843997, "chromosome": "4", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:58.697275", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1235A>G", "protein_change": "p.Asp412Gly", "transcript_id": "NM_176824.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1441" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3030/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3030/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3030/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3030/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS7" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3030/?format=api" } }, { "type": "SmallVariant", "id": "3044", "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": 6.064421, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 122756439, 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