Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ANOS1/variants/?format=api
{ "data": [ { "type": "CopyNumberVariant", "id": "3399", "attributes": { "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "X", "annotation_flag": "cnv", "lastmodified": "2023-12-20T14:11:25.443223", "location": "whole_gene", "sequence": "whole_gene", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1415" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3399/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3399/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "ANOS1" }, "links": { "related": "https://olida.ibsquare.be/api/genes/ANOS1/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3399/?format=api" } }, { "type": "CopyNumberVariant", "id": "1795", "attributes": { "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "X", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:17.839282", "location": "exon1", "sequence": "exon1", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI814" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1795/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1795/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "ANOS1" }, "links": { "related": "https://olida.ibsquare.be/api/genes/ANOS1/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1795/?format=api" } }, { "type": "CopyNumberVariant", "id": "1867", "attributes": { "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "X", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:01:19.130050", "location": "exon9_14", "sequence": "exon9_14", "number_of_repeats": null, "type_cnv": "deletion" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI853" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1867/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1867/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "ANOS1" }, "links": { "related": "https://olida.ibsquare.be/api/genes/ANOS1/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1867/?format=api" } }, { "type": "SmallVariant", "id": "245", "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": 2.972345, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8504893, "genomic_position_hg38": 8536852, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.971426", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1540G>A", "protein_change": "p.Glu514Lys", "transcript_id": "NM_000216.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI119" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/245/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/245/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/245/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/245/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/245/?format=api" } }, { "type": "SmallVariant", "id": "309", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0005, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0038, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0002917, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0003658, "gnomad_ASJ_maf": 0.004029, "gnomad_EAS_maf": 7.254e-05, "gnomad_FIN_maf": 6.303e-05, "gnomad_NFE_maf": 8.655e-05, "gnomad_OTH_maf": 0.0004446, "gnomad_SAS_maf": 0.0001064, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001486 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.647021, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8536293, "genomic_position_hg38": 8568252, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.340083", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Ser396Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI152" }, { "type": "Combination", "id": "OLI205" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/309/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/309/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/309/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/309/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/309/?format=api" } }, { "type": "SmallVariant", "id": "399", "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": 5.235575, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8522080, "genomic_position_hg38": 8554039, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.868330", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Arg423Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI206" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/399/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/399/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/399/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/399/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/399/?format=api" } }, { "type": "SmallVariant", "id": "559", "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": 3.058102, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 8555912, "genomic_position_hg38": 8587871, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:43.796571", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Tyr217Asp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI289" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/559/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/559/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/559/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/559/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/559/?format=api" } }, { "type": "SmallVariant", "id": "777", "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": 7.525869, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8503708, "genomic_position_hg38": 8535667, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.155514", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Trp589Ter", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI355" }, { "type": "Combination", "id": "OLI876" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/777/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/777/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/777/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/777/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/777/?format=api" } }, { "type": "SmallVariant", "id": "849", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0011, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0057, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0013, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002237, "gnomad_AFR_maf": 0.0006083, "gnomad_AMR_maf": 0.0008024, "gnomad_ASJ_maf": 0.008549, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.000125, "gnomad_NFE_maf": 0.003718, "gnomad_OTH_maf": 0.00221, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0005215, "ESP_EA_maf": 0.003867 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.055541, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 8503715, "genomic_position_hg38": 8535674, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.581187", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.1759G>T", "protein_change": "p.Val587Leu", "transcript_id": "NM_000216.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1391" }, { "type": "Combination", "id": "OLI391" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/849/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/849/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/849/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/849/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/849/?format=api" } }, { "type": "SmallVariant", "id": "855", "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": 5.880848, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8555990, "genomic_position_hg38": 8587949, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.620406", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.571C>T", "protein_change": "p.Arg191Ter", "transcript_id": "NM_000216.3", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1398" }, { "type": "Combination", "id": "OLI395" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/855/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/855/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/855/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/855/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/855/?format=api" } }, { "type": "SmallVariant", "id": "973", "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": 1.070096, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 8507740, "genomic_position_hg38": 8539699, "chromosome": "X", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:46.352059", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1464A>G", "protein_change": "p.Thr472Ala", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI456" }, { "type": "Combination", "id": "OLI498" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/973/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/973/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/973/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/973/gene/?format=api" }, "data": { "type": "Gene", "id": "ANOS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/973/?format=api" } }, { "type": "SmallVariant", "id": "975", "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": 0.001638, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.03363, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004194, "gnomad_OTH_maf": 0.003098, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.002676 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.423979, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 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