Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1680/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3540", "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": "Damaging", "cadd_prediction": 4.431982, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 55106686, "genomic_position_hg38": 54879549, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.771766", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.2347G>T", "protein_change": "p.Asp783Tyr", "transcript_id": "NM_001039753", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1680" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3540/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3540/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3540/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3540/gene/?format=api" }, "data": { "type": "Gene", "id": "EML6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3540/?format=api" } }, { "type": "SmallVariant", "id": "3541", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 2.788e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.894e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.444e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.763e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.207242, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72316952, "genomic_position_hg38": 71451235, "chromosome": "4", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.784571", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1256C>T", "protein_change": "p.Thr419Met", "transcript_id": "NM_001098484.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1680" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3541/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3541/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3541/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3541/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC4A4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3541/?format=api" } }, { "type": "SmallVariant", "id": "3542", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0008, "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": 1.592e-05, "gnomad_AFR_maf": 0.0002461, "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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.218575, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 9583668, "genomic_position_hg38": 9443539, "chromosome": "2", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.797729", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.1120A>G", "protein_change": "p.Ile374Val", "transcript_id": "NM_016207.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1680" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3542/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3542/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3542/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3542/gene/?format=api" }, "data": { "type": "Gene", "id": "CPSF3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3542/?format=api" } }, { "type": "SmallVariant", "id": "3543", "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": 0.0, "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": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.968643, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73563139, "genomic_position_hg38": 71803382, "chromosome": "10", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.810824", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.7834G>T", "protein_change": "p.Val2612Leu", "transcript_id": "NM_022124.6", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1680" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3543/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3543/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3543/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3543/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3543/?format=api" } }, { "type": "SmallVariant", "id": "3544", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001107, "gnomad_AFR_maf": 0.0005538, "gnomad_AMR_maf": 0.0004337, "gnomad_ASJ_maf": 0.0008939, "gnomad_EAS_maf": 0.0001087, "gnomad_FIN_maf": 0.0001848, "gnomad_NFE_maf": 0.001948, "gnomad_OTH_maf": 0.001304, "gnomad_SAS_maf": 0.0003267, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.447408, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 85968099, "genomic_position_hg38": 84208343, "chromosome": "10", "annotation_flag": null, "lastmodified": "2024-02-29T15:02:28.823816", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1133G>A", "protein_change": "p.Arg378Gln", "transcript_id": "NM_033100.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1680" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3544/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3544/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3544/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3544/gene/?format=api" }, "data": { "type": "Gene", "id": "CDHR1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3544/?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 } }