Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MAML2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "760", "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": 8.55e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001101, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.736e-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": "Damaging", "cadd_prediction": 3.47559, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 96074675, "genomic_position_hg38": 96341511, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.046288", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.385G>A", "protein_change": "p.Asp129Asn", "transcript_id": "NM_032427.3", "dbsnp_id": "rs892433964", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI352" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/760/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/760/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/760/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/760/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/760/?format=api" } }, { "type": "SmallVariant", "id": "1292", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0142, "KGP_genomes_AFR_maf": 0.0507, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.003583, "gnomad_AFR_maf": 0.051, "gnomad_AMR_maf": 0.002028, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 4.643e-05, "gnomad_NFE_maf": 0.0001507, "gnomad_OTH_maf": 0.001655, "gnomad_SAS_maf": 0.0001634, "ESP_AA_maf": 0.05031, "ESP_EA_maf": 0.0002416 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.925982, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 95826473, "genomic_position_hg38": 96093309, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.263528", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.722G>A", "protein_change": "p.Arg241Gln", "transcript_id": "NM_032427.3", "dbsnp_id": "rs111958464", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI601" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1292/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1292/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1292/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1292/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1292/?format=api" } }, { "type": "SmallVariant", "id": "1322", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000173, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001158, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001891, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.673e-05, "gnomad_OTH_maf": 0.0001653, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.531595, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 95826575, "genomic_position_hg38": 96093411, "chromosome": "11", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.460624", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.620G>A", "protein_change": "p.Arg207His", "transcript_id": "NM_032427.3", "dbsnp_id": "rs191391876", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1322/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1322/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1322/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1322/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1322/?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": 3 } }