Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1516/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "3174", "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": 4.327e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.956e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001718, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0001749, "gnomad_SAS_maf": 0.0001669, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.523359, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 1035309, "genomic_position_hg38": 985309, "chromosome": "16", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.525654", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1264G>A", "protein_change": "p.Gly422Ser", "transcript_id": "NM_014587", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1516" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3174/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3174/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3174/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3174/gene/?format=api" }, "data": { "type": "Gene", "id": "SOX8" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3174/?format=api" } }, { "type": "SmallVariant", "id": "3175", "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": 0.0001312, "gnomad_AFR_maf": 0.000123, "gnomad_AMR_maf": 0.0003758, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001582, "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": 3.861123, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 5282973, "genomic_position_hg38": 5302327, "chromosome": "20", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.531210", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.868C>T", "protein_change": "p.Pro290Ser", "transcript_id": "NM_144773", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI1516" }, { "type": "Combination", "id": "OLI1536" }, { "type": "Combination", "id": "OLI1540" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3175/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3175/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3175/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3175/gene/?format=api" }, "data": { "type": "Gene", "id": "PROKR2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3175/?format=api" } }, { "type": "SmallVariant", "id": "3176", "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": 4.174778, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 153689630, "genomic_position_hg38": 154461290, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.537080", "ref_allele": "CGTGCGCATGT", "alt_allele": "C", "cdna_change": "c.787_796del", "protein_change": "p.Val263fs", "transcript_id": "NM_017514", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1516" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3176/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3176/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3176/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3176/gene/?format=api" }, "data": { "type": "Gene", "id": "PLXNA3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3176/?format=api" } }, { "type": "SmallVariant", "id": "3177", "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": 0.0004537, "gnomad_AFR_maf": 8.091e-05, "gnomad_AMR_maf": 3.653e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0002512, "gnomad_NFE_maf": 0.0007446, "gnomad_OTH_maf": 0.0002246, "gnomad_SAS_maf": 0.0007867, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.680003, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 153590902, "genomic_position_hg38": 154362534, "chromosome": "X", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.542930", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.2449C>T", "protein_change": "p.Pro817Ser", "transcript_id": "NM_001110556", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1516" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3177/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3177/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3177/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3177/gene/?format=api" }, "data": { "type": "Gene", "id": "FLNA" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3177/?format=api" } }, { "type": "SmallVariant", "id": "3178", "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": 2.786e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001735, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.806e-06, "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": 1.444553, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 37049406, "genomic_position_hg38": 37049304, "chromosome": "5", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.548613", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.6954+3A>G", "protein_change": null, "transcript_id": "NM_015384", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1516" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3178/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3178/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3178/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3178/gene/?format=api" }, "data": { "type": "Gene", "id": "NIPBL" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3178/?format=api" } }, { "type": "SmallVariant", "id": "3179", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0006, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.001, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0002426, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0002602, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0003262, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0003428, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.000196, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.011531, "mutationtaster_prediction": null }, "status": "CU", "genomic_position_hg19": 73103990, "genomic_position_hg38": 71344233, "chromosome": "10", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.554184", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.325G>A", "protein_change": "p.Val109Ile", "transcript_id": "NM_001174098", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1516" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3179/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3179/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3179/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3179/gene/?format=api" }, "data": { "type": "Gene", "id": "SLC29A3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3179/?format=api" } }, { "type": "SmallVariant", "id": "3180", "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": 2.25553, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 42018318, "genomic_position_hg38": 41978719, "chromosome": "7", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:59.559872", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1527G>C", "protein_change": "p.Glu509Asp", "transcript_id": "NM_000168", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1516" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/3180/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/3180/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/3180/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/3180/gene/?format=api" }, "data": { "type": "Gene", "id": "GLI3" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/3180/?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": 7 } }