Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/KMT2D/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2315", "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": 5.095e-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": 1.152e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.292927, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49427612, "genomic_position_hg38": 49033829, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:54.521728", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.10876C>T", "protein_change": "p.Arg3626Trp", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1058" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2315/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2315/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2315/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2315/gene/?format=api" }, "data": { "type": "Gene", "id": "KMT2D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2315/?format=api" } }, { "type": "SmallVariant", "id": "3388", "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": 4.361e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 9.212e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.837e-05, "gnomad_OTH_maf": 0.0001781, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.716935, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49424111, "genomic_position_hg38": 49030328, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.826656", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.13951C>T", "protein_change": "p.His4651Tyr", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1607" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3388/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3388/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3388/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3388/gene/?format=api" }, "data": { "type": "Gene", "id": "KMT2D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3388/?format=api" } }, { "type": "SmallVariant", "id": "3392", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0038, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001655, "gnomad_AFR_maf": 0.002035, "gnomad_AMR_maf": 0.0004348, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.00295, "gnomad_FIN_maf": 0.002368, "gnomad_NFE_maf": 0.00212, "gnomad_OTH_maf": 0.002157, "gnomad_SAS_maf": 0.0003268, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.648814, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49432365, "genomic_position_hg38": 49038582, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.850157", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.8774C>T", "protein_change": "p.Ala2925Val", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1608" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3392/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3392/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3392/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3392/gene/?format=api" }, "data": { "type": "Gene", "id": "KMT2D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3392/?format=api" } }, { "type": "SmallVariant", "id": "3394", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.001, "gnomad_maf": 0.001589, "gnomad_AFR_maf": 0.0003874, "gnomad_AMR_maf": 0.0008693, "gnomad_ASJ_maf": 0.0001987, "gnomad_EAS_maf": 5.563e-05, "gnomad_FIN_maf": 0.001532, "gnomad_NFE_maf": 0.002398, "gnomad_OTH_maf": 0.002148, "gnomad_SAS_maf": 0.001307, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.173722, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49428694, "genomic_position_hg38": 49034911, "chromosome": "12", "annotation_flag": null, "lastmodified": "2023-06-06T16:58:00.861763", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.10256A>G", "protein_change": "p.Asp3419Gly", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1609" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3394/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3394/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3394/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3394/gene/?format=api" }, "data": { "type": "Gene", "id": "KMT2D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3394/?format=api" } }, { "type": "SmallVariant", "id": "3652", "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": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.405462, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 49447365, "genomic_position_hg38": 49053582, "chromosome": "12", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:32.234866", "ref_allele": "T", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Thr245Ser", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1720" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3652/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3652/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3652/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3652/gene/?format=api" }, "data": { "type": "Gene", "id": "KMT2D" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3652/?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) 2026 · 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 } }