Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI718/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "1540", "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": 0.0001075, "gnomad_AFR_maf": 0.0001847, "gnomad_AMR_maf": 5.785e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001937, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 1.843521, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 50406762, "genomic_position_hg38": 51790223, "chromosome": "20", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:49.784133", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.2260G>A", "protein_change": "p.Val754Met", "transcript_id": "NM_020436.4", "dbsnp_id": "rs199607966", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI705" }, { "type": "Combination", "id": "OLI718" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1540/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1540/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1540/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1540/gene/?format=api" }, "data": { "type": "Gene", "id": "SALL4" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1540/?format=api" } }, { "type": "SmallVariant", "id": "1575", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0026, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0109, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.006476, "gnomad_AFR_maf": 0.001417, "gnomad_AMR_maf": 0.007661, "gnomad_ASJ_maf": 0.01022, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003188, "gnomad_NFE_maf": 0.009365, "gnomad_OTH_maf": 0.008649, "gnomad_SAS_maf": 0.001633, "ESP_AA_maf": 0.002497, "ESP_EA_maf": 0.01081 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 4.02111, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 70881670, "genomic_position_hg38": 70415987, "chromosome": "1", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:50.004239", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.200C>T", "protein_change": "p.Thr67Ile", "transcript_id": "NM_001902.6", "dbsnp_id": "rs2894178", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI718" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1575/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1575/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1575/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1575/gene/?format=api" }, "data": { "type": "Gene", "id": "CTH" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1575/?format=api" } }, { "type": "SmallVariant", "id": "1576", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0016, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0043, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.004315, "gnomad_AFR_maf": 0.001186, "gnomad_AMR_maf": 0.003155, "gnomad_ASJ_maf": 0.001894, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.002498, "gnomad_NFE_maf": 0.006958, "gnomad_OTH_maf": 0.004749, "gnomad_SAS_maf": 0.002157, "ESP_AA_maf": 0.002043, "ESP_EA_maf": 0.007095 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.788359, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 85674230, "genomic_position_hg38": 85280452, "chromosome": "12", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.010390", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.191G>T", "protein_change": "p.Arg64Leu", "transcript_id": "NM_006982.2", "dbsnp_id": "rs115596276", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI718" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1576/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1576/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1576/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1576/gene/?format=api" }, "data": { "type": "Gene", "id": "ALX1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1576/?format=api" } }, { "type": "SmallVariant", "id": "1577", "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": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 5.174e-05, "gnomad_AFR_maf": 6.155e-05, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0001632, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 2.64e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 0.0001963, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.797756, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 64905889, "genomic_position_hg38": 64439171, "chromosome": "14", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.016531", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1673C>T", "protein_change": "p.Thr558Met", "transcript_id": "NM_005956.3", "dbsnp_id": "rs540154396", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI718" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1577/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1577/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1577/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1577/gene/?format=api" }, "data": { "type": "Gene", "id": "MTHFD1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1577/?format=api" } }, { "type": "SmallVariant", "id": "1578", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0062, "KGP_genomes_AFR_maf": 0.0227, "KGP_genomes_AMR_maf": 0.0014, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.001559, "gnomad_AFR_maf": 0.02116, "gnomad_AMR_maf": 0.000665, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0001408, "gnomad_OTH_maf": 0.0009782, "gnomad_SAS_maf": 9.799e-05, "ESP_AA_maf": 0.02065, "ESP_EA_maf": 0.0002326 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.904379, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 104337548, "genomic_position_hg38": 103325320, "chromosome": "8", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:50.022906", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1214G>A", "protein_change": "p.Arg405Gln", "transcript_id": "NM_001164615.1", "dbsnp_id": "rs150760762", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI718" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1578/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1578/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1578/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1578/gene/?format=api" }, "data": { "type": "Gene", "id": "FZD6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1578/?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 } }