Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/MAML3/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "730", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0089, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.0005575, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 9.934e-05, "gnomad_EAS_maf": 0.007619, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.268e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001185 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.781831, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 140810966, "genomic_position_hg38": 139889812, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:44.853391", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1612A>G", "protein_change": "p.Met538Val", "transcript_id": "NM_018717.4", "dbsnp_id": "rs148778901", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI346" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/730/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/730/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/730/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/730/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/730/?format=api" } }, { "type": "SmallVariant", "id": "755", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.004, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.0001609, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001161, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.001058, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.98e-05, "gnomad_OTH_maf": 0.0001656, "gnomad_SAS_maf": 0.000229, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.976582, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140640910, "genomic_position_hg38": 139719756, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.014435", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2969C>T", "protein_change": "p.Pro990Leu", "transcript_id": "NM_018717.4", "dbsnp_id": "rs185593153", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI351" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/755/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/755/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/755/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/755/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/755/?format=api" } }, { "type": "SmallVariant", "id": "1305", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0046, "KGP_genomes_AFR_maf": 0.0174, "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": 0.001075, "gnomad_AFR_maf": 0.01446, "gnomad_AMR_maf": 0.0009268, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.541e-05, "gnomad_OTH_maf": 0.0006612, "gnomad_SAS_maf": 0.0001307, "ESP_AA_maf": 0.01182, "ESP_EA_maf": 0.0 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.591954, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140811687, "genomic_position_hg38": 139890533, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:48.345393", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.903C>T", "protein_change": "p.Asp301=", "transcript_id": "NM_018717.4", "dbsnp_id": "rs76066862", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI602" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1305/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1305/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1305/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1305/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1305/?format=api" } }, { "type": "SmallVariant", "id": "1312", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0018, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.004, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.002207, "gnomad_AFR_maf": 0.0005812, "gnomad_AMR_maf": 0.0009557, "gnomad_ASJ_maf": 0.002384, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0007425, "gnomad_NFE_maf": 0.003593, "gnomad_OTH_maf": 0.001983, "gnomad_SAS_maf": 0.001634, "ESP_AA_maf": 0.0007862, "ESP_EA_maf": 0.003382 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.359457, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140811709, "genomic_position_hg38": 139890555, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:48.389237", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.881A>G", "protein_change": "p.Asn294Ser", "transcript_id": "NM_018717.4", "dbsnp_id": "rs115966590", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI603" }, { "type": "Combination", "id": "OLI604" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1312/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1312/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1312/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1312/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1312/?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": 4 } }