Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NLRP3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "883", "attributes": { "frequencies": { "KGP_genomes_maf": 0.004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.008316, "gnomad_AFR_maf": 0.001232, "gnomad_AMR_maf": 0.00408, "gnomad_ASJ_maf": 0.01301, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.02317, "gnomad_NFE_maf": 0.00928, "gnomad_OTH_maf": 0.008649, "gnomad_SAS_maf": 0.006142, "ESP_AA_maf": 0.001589, "ESP_EA_maf": 0.009535 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.769166, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 247587343, "genomic_position_hg38": 247424041, "chromosome": "1", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.788940", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.592G>A", "protein_change": "p.Val198Met", "transcript_id": "NM_001079821.3", "dbsnp_id": "rs121908147", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI411" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/883/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/883/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/883/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/883/gene/?format=api" }, "data": { "type": "Gene", "id": "NLRP3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/883/?format=api" } }, { "type": "SmallVariant", "id": "885", "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": 4.383e-05, "gnomad_AFR_maf": 6.168e-05, "gnomad_AMR_maf": 5.794e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.406e-05, "gnomad_OTH_maf": 0.0001632, "gnomad_SAS_maf": 6.539e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.408532, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 247587277, "genomic_position_hg38": 247423975, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.802053", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.526C>T", "protein_change": "p.Arg176Trp", "transcript_id": "NM_001243133.1", "dbsnp_id": "rs201867990", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI412" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/885/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/885/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/885/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/885/gene/?format=api" }, "data": { "type": "Gene", "id": "NLRP3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/885/?format=api" } }, { "type": "SmallVariant", "id": "3736", "attributes": { "frequencies": { "KGP_genomes_maf": 0.004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0119, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.008316, "gnomad_AFR_maf": 0.001232, "gnomad_AMR_maf": 0.00408, "gnomad_ASJ_maf": 0.01301, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.02317, "gnomad_NFE_maf": 0.00928, "gnomad_OTH_maf": 0.008649, "gnomad_SAS_maf": 0.006142, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.769166, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 247587343, "genomic_position_hg38": 247424041, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:35.682258", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.592G>A", "protein_change": "p.Val200Met", "transcript_id": "NM_001079821.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1768" }, { "type": "Combination", "id": "OLI1771" }, { "type": "Combination", "id": "OLI1788" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3736/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3736/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3736/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3736/gene/?format=api" }, "data": { "type": "Gene", "id": "NLRP3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3736/?format=api" } }, { "type": "SmallVariant", "id": "3737", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0224, "KGP_genomes_AFR_maf": 0.0068, "KGP_genomes_AMR_maf": 0.0202, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.0507, "KGP_genomes_SAS_maf": 0.0368, "gnomad_maf": 0.03913, "gnomad_AFR_maf": 0.009421, "gnomad_AMR_maf": 0.01874, "gnomad_ASJ_maf": 0.0654, "gnomad_EAS_maf": 0.001795, "gnomad_FIN_maf": 0.04838, "gnomad_NFE_maf": 0.05173, "gnomad_OTH_maf": 0.04492, "gnomad_SAS_maf": 0.03786, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": -0.084527, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 247588858, "genomic_position_hg38": 247425556, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:35.744212", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.2107C>A", "protein_change": "p.Gln703Lys", "transcript_id": "NM_001079821.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 9 }, "data": [ { "type": "Combination", "id": "OLI1769" }, { "type": "Combination", "id": "OLI1770" }, { "type": "Combination", "id": "OLI1772" }, { "type": "Combination", "id": "OLI1777" }, { "type": "Combination", "id": "OLI1778" }, { "type": "Combination", "id": "OLI1779" }, { "type": "Combination", "id": "OLI1786" }, { "type": "Combination", "id": "OLI1787" }, { "type": "Combination", "id": "OLI1789" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3737/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3737/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3737/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3737/gene/?format=api" }, "data": { "type": "Gene", "id": "NLRP3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3737/?format=api" } }, { "type": "SmallVariant", "id": "3744", "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": 3.210968, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 247588672, "genomic_position_hg38": 247425370, "chromosome": "1", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:36.563339", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1921G>A", "protein_change": "p.Val641Met", "transcript_id": "NM_001079821.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1780" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3744/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3744/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3744/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3744/gene/?format=api" }, "data": { "type": "Gene", "id": "NLRP3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3744/?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": 5 } }