Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/ZNRF3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1541", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.002, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000905, "gnomad_AFR_maf": 0.0001312, "gnomad_AMR_maf": 0.000262, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0004627, "gnomad_NFE_maf": 0.001724, "gnomad_OTH_maf": 0.0006696, "gnomad_SAS_maf": 9.856e-05, "ESP_AA_maf": 0.0004847, "ESP_EA_maf": 0.002029 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.226964, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29445447, "genomic_position_hg38": 29049459, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.790630", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1278C>G", "protein_change": "p.His426Gln", "transcript_id": "NM_001206998.1", "dbsnp_id": "rs200654061", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI705" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1541/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1541/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1541/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1541/gene/?format=api" }, "data": { "type": "Gene", "id": "ZNRF3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1541/?format=api" } }, { "type": "SmallVariant", "id": "1555", "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": 4.065e-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": 3.37e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.122816, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29442725, "genomic_position_hg38": 29046737, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.878501", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.766G>A", "protein_change": "p.Val256Met", "transcript_id": "NM_001206998.1", "dbsnp_id": "rs756388076", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI711" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1555/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1555/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1555/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1555/gene/?format=api" }, "data": { "type": "Gene", "id": "ZNRF3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1555/?format=api" } }, { "type": "SmallVariant", "id": "1642", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.004541, "gnomad_AFR_maf": 0.000968, "gnomad_AMR_maf": 0.002144, "gnomad_ASJ_maf": 0.001589, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01267, "gnomad_NFE_maf": 0.004708, "gnomad_OTH_maf": 0.005607, "gnomad_SAS_maf": 0.006143, "ESP_AA_maf": 0.00139, "ESP_EA_maf": 0.006232 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.177793, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29444445, "genomic_position_hg38": 29048457, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.428369", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.981C>A", "protein_change": "p.His327Gln", "transcript_id": "NM_001206998.1", "dbsnp_id": "rs55775472", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI744" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1642/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1642/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1642/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1642/gene/?format=api" }, "data": { "type": "Gene", "id": "ZNRF3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1642/?format=api" } }, { "type": "SmallVariant", "id": "1673", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0007288, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001915, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0005127, "gnomad_NFE_maf": 0.001347, "gnomad_OTH_maf": 0.0006646, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.001083 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.105756, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29446903, "genomic_position_hg38": 29050915, "chromosome": "22", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.625178", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2734C>A", "protein_change": "p.Gln912Lys", "transcript_id": "NM_001206998.1", "dbsnp_id": "rs199737518", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI756" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1673/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1673/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1673/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1673/gene/?format=api" }, "data": { "type": "Gene", "id": "ZNRF3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1673/?format=api" } }, { "type": "SmallVariant", "id": "3203", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0008, "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": 0.0001448, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001468, "gnomad_ASJ_maf": 0.000103, "gnomad_EAS_maf": 0.0001134, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001897, "gnomad_OTH_maf": 0.0006988, "gnomad_SAS_maf": 6.63e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.949583, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29445676, "genomic_position_hg38": 29049688, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.700344", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1507G>A", "protein_change": "p.Gly503Ser", "transcript_id": "NM_001206998", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI1526" }, { "type": "Combination", "id": "OLI1531" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3203/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3203/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3203/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3203/gene/?format=api" }, "data": { "type": "Gene", "id": "ZNRF3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3203/?format=api" } }, { "type": "SmallVariant", "id": "3235", "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": 8.533e-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": 1.957e-05, "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": -0.216551, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 29446030, "genomic_position_hg38": 29050042, "chromosome": "22", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.893946", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.1861G>T", "protein_change": "p.Ala621Ser", "transcript_id": "NM_001206998", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1539" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3235/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3235/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3235/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3235/gene/?format=api" }, "data": { "type": "Gene", "id": "ZNRF3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3235/?format=api" } } ], "meta": { "database_name": "OLIgogenic diseases DAtabase (OLIDA)", "resource_url": "olida.ibsquare.be", "api_release_year": "2021", "api_developer": [ [ "Arnau Dillen", "arnau.dillen@ulb.ac.be" ], [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_version": "0.3", "api_maintainers": [ [ "Charlotte Nachtegael", "charlotte.nachtegael@ulb.be" ] ], "api_documentation": [ "olida.ibsquare.be/api/swagger", "olida.ibsquare.be/api/redoc" ], "copyright": "Copyright (c) 2025 · OLIDA All Rights Reserved.", "license": "CC Attribution-NonCommercial 4.0 International License", "ontologies": { "ORDO": "http://bioportal.bioontology.org/ontologies/ORDO", "GENO": "http://purl.obolibrary.org/obo/geno.owl", "MI": "http://purl.obolibrary.org/obo/mi.owl", "NCIT": "http://purl.obolibrary.org/obo/ncit.owl", "OGI": "http://purl.obolibrary.org/obo/ogi.owl", "OGG": "http://purl.obolibrary.org/obo/ogg.owl" }, "relevant_publications_doi": [ "10.1093/nar/gkv1068", "10.1093/database/baac023" ], "Variant serializers": [ "SmallVariantSerializer", "CopyNumberVariantSerializer" ], "size": 6 } }