Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1328/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2786", "attributes": { "frequencies": { "KGP_genomes_maf": 0.002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.007, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.006912, "gnomad_AFR_maf": 0.001234, "gnomad_AMR_maf": 0.00463, "gnomad_ASJ_maf": 0.009964, "gnomad_EAS_maf": 5.454e-05, "gnomad_FIN_maf": 0.006801, "gnomad_NFE_maf": 0.01021, "gnomad_OTH_maf": 0.00656, "gnomad_SAS_maf": 0.003629, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.162844, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141116420, "genomic_position_hg38": 140358851, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.235097", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.11227G>A", "protein_change": null, "transcript_id": "NM_018557.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2786/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2786/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2786/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2786/gene/?format=api" }, "data": { "type": "Gene", "id": "LRP1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2786/?format=api" } }, { "type": "SmallVariant", "id": "2787", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0024, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0058, "KGP_genomes_EAS_maf": 0.002, "KGP_genomes_EUR_maf": 0.006, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.002011, "gnomad_AFR_maf": 0.0009867, "gnomad_AMR_maf": 0.003811, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001643, "gnomad_FIN_maf": 0.00227, "gnomad_NFE_maf": 0.002468, "gnomad_OTH_maf": 0.003449, "gnomad_SAS_maf": 0.0001309, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.308915, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 141777554, "genomic_position_hg38": 141019985, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.241047", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1907G>A", "protein_change": null, "transcript_id": "NM_018557.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2787/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2787/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2787/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2787/gene/?format=api" }, "data": { "type": "Gene", "id": "LRP1B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2787/?format=api" } }, { "type": "SmallVariant", "id": "2788", "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": 0.0005185, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.734e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0009527, "gnomad_NFE_maf": 0.0009489, "gnomad_OTH_maf": 0.0002279, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.564971, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44920641, "genomic_position_hg38": 45061396, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.247154", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.1402T>C", "protein_change": null, "transcript_id": "NM_021140.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2788/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2788/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2788/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2788/gene/?format=api" }, "data": { "type": "Gene", "id": "KDM6A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2788/?format=api" } }, { "type": "SmallVariant", "id": "2789", "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": 0.0001292, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002571, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 7.446e-05, "gnomad_NFE_maf": 0.0001851, "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": 2.704457, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 103294911, "genomic_position_hg38": 104040344, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.253222", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.368T>G", "protein_change": null, "transcript_id": "NM_001164416.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1328" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2789/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2789/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2789/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2789/gene/?format=api" }, "data": { "type": "Gene", "id": "H2BW2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2789/?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 } }