Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI402/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "864", "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": 8.059995, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 54417183, "genomic_position_hg38": 53950465, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.679109", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.794G>A", "protein_change": "p.Trp265Ter", "transcript_id": "NM_130850.4", "dbsnp_id": "NA", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI402" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/864/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/864/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/864/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/864/gene/?format=api" }, "data": { "type": "Gene", "id": "BMP4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/864/?format=api" } }, { "type": "SmallVariant", "id": "865", "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": 4.53168, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 73680355, "genomic_position_hg38": 73453228, "chromosome": "2", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:45.685632", "ref_allele": "ATAAA", "alt_allele": "A", "cdna_change": "c.6699_6702del", "protein_change": "p.Lys2234GlnfsTer31", "transcript_id": "NM_015120.4", "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI402" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/865/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/865/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/865/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/865/gene/?format=api" }, "data": { "type": "Gene", "id": "ALMS1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/865/?format=api" } }, { "type": "SmallVariant", "id": "866", "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": 7.953e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.79e-06, "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": 2.09949, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 48581268, "genomic_position_hg38": 51054898, "chromosome": "18", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.692077", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.572C>T", "protein_change": "p.Ser191Leu", "transcript_id": "NM_005359.5", "dbsnp_id": "rs752575871", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI402" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/866/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/866/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/866/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/866/gene/?format=api" }, "data": { "type": "Gene", "id": "SMAD4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/866/?format=api" } }, { "type": "SmallVariant", "id": "867", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0004, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.001, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.000167, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001157, "gnomad_ASJ_maf": 0.0007937, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 7.911e-05, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0006533, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.195493, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 67227377, "genomic_position_hg38": 67193474, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.698526", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.410T>C", "protein_change": "p.Leu137Ser", "transcript_id": "NM_001950.3", "dbsnp_id": "rs202020885", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI402" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/867/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/867/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/867/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/867/gene/?format=api" }, "data": { "type": "Gene", "id": "E2F4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/867/?format=api" } }, { "type": "SmallVariant", "id": "868", "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": 2.788e-05, "gnomad_AFR_maf": 6.171e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 4.405e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001163 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.688239, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 72999761, "genomic_position_hg38": 75287806, "chromosome": "18", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:45.705079", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2264G>A", "protein_change": "p.Arg755His", "transcript_id": "NM_005786.6", "dbsnp_id": "rs146830433", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI402" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/868/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/868/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/868/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/868/gene/?format=api" }, "data": { "type": "Gene", "id": "TSHZ1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/868/?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 } }