Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI343/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "717", "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": "Benign", "cadd_prediction": 1.052305, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 149680332, "genomic_position_hg38": 150512062, "chromosome": "X", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.770296", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1986C>G", "protein_change": "p.Ser662Arg", "transcript_id": "NM_001177465.3", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI343" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/717/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/717/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/717/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/717/gene/?format=api" }, "data": { "type": "Gene", "id": "MAMLD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/717/?format=api" } }, { "type": "SmallVariant", "id": "718", "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": 0.67693, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 43622103, "genomic_position_hg38": 43126655, "chromosome": "10", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.776662", "ref_allele": "G", "alt_allele": "C", "cdna_change": "c.3120G>C", "protein_change": "p.Leu1040=", "transcript_id": "NM_020975.4", "dbsnp_id": "NA", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI343" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/718/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/718/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/718/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/718/gene/?format=api" }, "data": { "type": "Gene", "id": "RET" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/718/?format=api" } }, { "type": "SmallVariant", "id": "719", "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": 7.287e-06, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 7.831e-05, "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": -0.139275, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 73553434, "genomic_position_hg38": 71793677, "chromosome": "10", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:44.783022", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.6712+37C>T", "protein_change": null, "transcript_id": "NM_022124.7", "dbsnp_id": "rs750966744", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI343" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/719/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/719/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/719/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/719/gene/?format=api" }, "data": { "type": "Gene", "id": "CDH23" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/719/?format=api" } }, { "type": "SmallVariant", "id": "720", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0032, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0159, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001502, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.909e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0203, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.956e-06, "gnomad_OTH_maf": 0.0005007, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 0.309211, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 76900350, "genomic_position_hg38": 77189305, "chromosome": "11", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:44.789571", "ref_allele": "T", "alt_allele": "C", "cdna_change": "c.3504-39T>C", "protein_change": null, "transcript_id": "NM_000260.3", "dbsnp_id": "rs192929996", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI343" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/720/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/720/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/720/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/720/gene/?format=api" }, "data": { "type": "Gene", "id": "MYO7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/720/?format=api" } }, { "type": "SmallVariant", "id": "721", "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": 0.652014, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179196012, "genomic_position_hg38": 179769011, "chromosome": "5", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:44.796087", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1893G>A", "protein_change": "p.Gln631=", "transcript_id": "NM_014757.5", "dbsnp_id": "NA", "variant_effect": "silent" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI343" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/721/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/721/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/721/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/721/gene/?format=api" }, "data": { "type": "Gene", "id": "MAML1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/721/?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 } }