Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI025/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "49", "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": 7.982e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001089, "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": 2.39537, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 7706933, "genomic_position_hg38": 7642047, "chromosome": "19", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.815183", "ref_allele": "A", "alt_allele": "C", "cdna_change": "c.592A>C", "protein_change": "p.Thr198Pro", "transcript_id": "NM_006949.3", "dbsnp_id": "rs760187284", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI025" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/49/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/49/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/49/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/49/gene/?format=api" }, "data": { "type": "Gene", "id": "STXBP2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/49/?format=api" } }, { "type": "SmallVariant", "id": "50", "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": 7.978e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001094, "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": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.917755, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 235973288, "genomic_position_hg38": 235809988, "chromosome": "1", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.821662", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.830A>T", "protein_change": "p.His277Leu", "transcript_id": "NM_000081.3", "dbsnp_id": "rs1247313496", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI025" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/50/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/50/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/50/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/50/gene/?format=api" }, "data": { "type": "Gene", "id": "LYST" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/50/?format=api" } }, { "type": "SmallVariant", "id": "51", "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": 0.0002312, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0002979, "gnomad_EAS_maf": 0.002993, "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": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 3.95036, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 151827481, "genomic_position_hg38": 150906329, "chromosome": "4", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.827991", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1570G>A", "protein_change": "p.Gly524Ser", "transcript_id": "NM_006726.4", "dbsnp_id": "rs776254567", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI025" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/51/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/51/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/51/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/51/gene/?format=api" }, "data": { "type": "Gene", "id": "LRBA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/51/?format=api" } }, { "type": "SmallVariant", "id": "52", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "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": 0.001, "gnomad_maf": 0.0001598, "gnomad_AFR_maf": 0.001424, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0004896, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.426e-05, "gnomad_OTH_maf": 0.0001639, "gnomad_SAS_maf": 6.534e-05, "ESP_AA_maf": 0.002044, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.624501, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 45708288, "genomic_position_hg38": 44288405, "chromosome": "21", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.834523", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.599C>T", "protein_change": "p.Pro200Leu", "transcript_id": "NM_000383.3", "dbsnp_id": "rs140196414", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI025" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/52/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/52/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/52/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/52/gene/?format=api" }, "data": { "type": "Gene", "id": "AIRE" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/52/?format=api" } }, { "type": "SmallVariant", "id": "53", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "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": 0.0, "gnomad_maf": 0.0007516, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 5.782e-05, "gnomad_ASJ_maf": 0.008631, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002911, "gnomad_NFE_maf": 0.0002725, "gnomad_OTH_maf": 0.0009778, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.000814 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.835917, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 85942708, "genomic_position_hg38": 85909102, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:40.841068", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.287C>T", "protein_change": "p.Thr96Met", "transcript_id": "NM_002163.2", "dbsnp_id": "rs145048966", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI025" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/53/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/53/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/53/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/53/gene/?format=api" }, "data": { "type": "Gene", "id": "IRF8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/53/?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 } }