Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI351/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "752", "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": 3.033e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003836, "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": 0.3827, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149681321, "genomic_position_hg38": 150513051, "chromosome": "X", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.995146", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2975C>T", "protein_change": "p.Thr992Ile", "transcript_id": "NM_001177465.3", "dbsnp_id": "rs1221923468", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI351" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/752/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/752/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/752/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/752/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/752/?format=api" } }, { "type": "SmallVariant", "id": "753", "attributes": { "frequencies": { "KGP_genomes_maf": 0.003, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0149, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001534, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.002389, "gnomad_EAS_maf": 0.01758, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.32e-05, "gnomad_OTH_maf": 0.001158, "gnomad_SAS_maf": 0.0009478, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001184 }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.194216, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73570333, "genomic_position_hg38": 71810576, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.001634", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.9077+7C>T", "protein_change": null, "transcript_id": "NM_022124.6", "dbsnp_id": "rs76114420", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI351" }, { "type": "Combination", "id": "OLI352" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/753/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/753/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/753/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/753/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/753/?format=api" } }, { "type": "SmallVariant", "id": "754", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0002, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 2.474e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 3.327e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002295, "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.336409, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 44954069, "genomic_position_hg38": 46876703, "chromosome": "17", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.008104", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1059C>T", "protein_change": "p.Tyr353=", "transcript_id": "NM_003396.2", "dbsnp_id": "rs537242221", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI351" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/754/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/754/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/754/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/754/gene/?format=api" }, "data": { "type": "Gene", "id": "WNT9B" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/754/?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": "756", "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": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.51505, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 79367447, "genomic_position_hg38": 78446293, "chromosome": "4", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:45.020924", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.5857-434C>T", "protein_change": null, "transcript_id": "NM_025074.7", "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI351" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/756/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/756/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/756/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/756/gene/?format=api" }, "data": { "type": "Gene", "id": "FRAS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/756/?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 } }