Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/COL4A3/variants/?format=api
{ "data": [ { "type": "CopyNumberVariant", "id": "834", "attributes": { "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "2", "annotation_flag": "cnv", "lastmodified": "2021-10-18T11:00:59.006299", "location": "exon1", "sequence": "exon1", "number_of_repeats": null, "type_cnv": "duplication" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI382" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/834/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/834/combinations/?format=api" } }, "gene_name": { "data": { "type": "Gene", "id": "COL4A3" }, "links": { "related": "https://olida.ibsquare.be/api/genes/COL4A3/?format=api" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/834/?format=api" } }, { "type": "SmallVariant", "id": "73", "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": 1.202e-05, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 2.896e-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": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.086901, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228159224, "genomic_position_hg38": 227294508, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.955401", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3356G>A", "protein_change": "p.Gly1119Asp", "transcript_id": "NM_000091.4", "dbsnp_id": "rs764480728", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI034" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/73/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/73/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/73/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/73/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/73/?format=api" } }, { "type": "SmallVariant", "id": "278", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0051, "gnomad_maf": 0.006293, "gnomad_AFR_maf": 0.001744, "gnomad_AMR_maf": 0.00168, "gnomad_ASJ_maf": 0.001192, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002047, "gnomad_NFE_maf": 0.01108, "gnomad_OTH_maf": 0.004785, "gnomad_SAS_maf": 0.004771, "ESP_AA_maf": 0.002351, "ESP_EA_maf": 0.009557 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.894463, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 228173636, "genomic_position_hg38": 227308920, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.159379", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.4484A>G", "protein_change": "p.Gln1495Arg", "transcript_id": "NM_000091.4", "dbsnp_id": "rs77964815", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI133" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/278/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/278/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/278/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/278/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/278/?format=api" } }, { "type": "SmallVariant", "id": "312", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0003769, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0008692, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0005127, "gnomad_OTH_maf": 0.0009904, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0002434 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.447495, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228163475, "genomic_position_hg38": 227298759, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.358641", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.3829G>A", "protein_change": "p.Gly1277Ser", "transcript_id": "NM_000091.4", "dbsnp_id": "rs190598500", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI154" }, { "type": "Combination", "id": "OLI155" }, { "type": "Combination", "id": "OLI156" }, { "type": "Combination", "id": "OLI974" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/312/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/312/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/312/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/312/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/312/?format=api" } }, { "type": "SmallVariant", "id": "316", "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": 0.0002205, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001449, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.641e-05, "gnomad_NFE_maf": 0.0004153, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.536e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000847 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.405132, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228173675, "genomic_position_hg38": 227308959, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:42.383528", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.4523A>G", "protein_change": "p.Asn1508Ser", "transcript_id": "NM_000091.4", "dbsnp_id": "rs200512461", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI157" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/316/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/316/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/316/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/316/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/316/?format=api" } }, { "type": "SmallVariant", "id": "617", "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": 5.005477, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228159287, "genomic_position_hg38": 227294571, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.110495", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.3418+1G>T", "protein_change": null, "transcript_id": "NM_000091.4", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI318" }, { "type": "Combination", "id": "OLI319" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/617/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/617/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/617/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/617/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/617/?format=api" } }, { "type": "SmallVariant", "id": "618", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0015, "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": 4.409e-05, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.000445, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.766e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0002461, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.083963, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228173943, "genomic_position_hg38": 227309227, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.117713", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.4664C>T", "protein_change": "p.Ala1555Val", "transcript_id": "NM_000091.4", "dbsnp_id": "rs369575989", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI318" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/618/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/618/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/618/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/618/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/618/?format=api" } }, { "type": "SmallVariant", "id": "822", "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": 5.044214, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228148573, "genomic_position_hg38": 227283857, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.425067", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2746+1G>T", "protein_change": null, "transcript_id": "NM_000091.4", "dbsnp_id": "rs1574786225", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI376" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/822/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/822/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/822/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/822/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/822/?format=api" } }, { "type": "SmallVariant", "id": "824", "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": 2.005e-05, "gnomad_AFR_maf": 6.457e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.65e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.925162, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228120751, "genomic_position_hg38": 227256035, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.438031", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.898G>A", "protein_change": "p.Gly300Arg", "transcript_id": "NM_000091.4", "dbsnp_id": "rs772708743", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI377" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/824/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/824/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/824/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/824/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/824/?format=api" } }, { "type": "SmallVariant", "id": "826", "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": 3.371912, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 228134679, "genomic_position_hg38": 227269963, "chromosome": "2", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.451008", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.1558G>C", "protein_change": "p.Gly520Arg", "transcript_id": "NM_000091.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI378" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/826/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/826/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/826/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/826/gene/?format=api" }, "data": { "type": "Gene", "id": "COL4A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/826/?format=api" } }, { "type": "SmallVariant", "id": "828", "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": 3.904171, 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