Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/combinations/OLI1333/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "2808", "attributes": { "frequencies": { "KGP_genomes_maf": 0.005, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0115, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0129, "KGP_genomes_SAS_maf": 0.0031, "gnomad_maf": 0.008931, "gnomad_AFR_maf": 0.002614, "gnomad_AMR_maf": 0.00777, "gnomad_ASJ_maf": 0.009513, "gnomad_EAS_maf": 5.485e-05, "gnomad_FIN_maf": 0.002886, "gnomad_NFE_maf": 0.01415, "gnomad_OTH_maf": 0.01102, "gnomad_SAS_maf": 0.003326, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.283031, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 191864302, "genomic_position_hg38": 190999576, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.367970", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.541+50T>C", "protein_change": null, "transcript_id": "NM_007315.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2808/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2808/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2808/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2808/gene/?format=api" }, "data": { "type": "Gene", "id": "STAT1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2808/?format=api" } }, { "type": "SmallVariant", "id": "2809", "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": 0.001642, "gnomad_AFR_maf": 0.0003232, "gnomad_AMR_maf": 2.904e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.003346, "gnomad_NFE_maf": 0.002869, "gnomad_OTH_maf": 0.00116, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.996934, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179396568, "genomic_position_hg38": 178531841, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.373906", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.97070A>C", "protein_change": null, "transcript_id": "NM_133378.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2809/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2809/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2809/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2809/gene/?format=api" }, "data": { "type": "Gene", "id": "TTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2809/?format=api" } }, { "type": "SmallVariant", "id": "2810", "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": 1.611e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 3.566e-05, "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": "Possibly Damaging", "cadd_prediction": 2.926447, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 179427970, "genomic_position_hg38": 178563243, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.379953", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.75185A>C", "protein_change": null, "transcript_id": "NM_133378.4", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2810/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2810/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2810/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2810/gene/?format=api" }, "data": { "type": "Gene", "id": "TTN" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2810/?format=api" } }, { "type": "SmallVariant", "id": "2811", "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": null, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 242716400, "genomic_position_hg38": 241776985, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.385881", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.29+1G>A", "protein_change": null, "transcript_id": "NM_022134.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2811/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2811/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2811/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2811/gene/?format=api" }, "data": { "type": "Gene", "id": "GAL3ST2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2811/?format=api" } }, { "type": "SmallVariant", "id": "2812", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0012, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.003, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.004393, "gnomad_AFR_maf": 0.00101, "gnomad_AMR_maf": 0.001664, "gnomad_ASJ_maf": 0.01205, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.004076, "gnomad_NFE_maf": 0.006848, "gnomad_OTH_maf": 0.005124, "gnomad_SAS_maf": 0.0003958, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.774771, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 242742842, "genomic_position_hg38": 241803427, "chromosome": "2", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.391931", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.458A>G", "protein_change": null, "transcript_id": "NM_022134.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2812/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2812/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2812/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2812/gene/?format=api" }, "data": { "type": "Gene", "id": "GAL3ST2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2812/?format=api" } }, { "type": "SmallVariant", "id": "2813", "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": 0.0001352, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 2.891e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 9.239e-05, "gnomad_NFE_maf": 0.0002637, "gnomad_OTH_maf": 0.0001629, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 3.120711, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 185704020, "genomic_position_hg38": 185734888, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.398002", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.109G>A", "protein_change": null, "transcript_id": "NM_031935.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2813/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2813/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2813/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2813/gene/?format=api" }, "data": { "type": "Gene", "id": "HMCN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2813/?format=api" } }, { "type": "SmallVariant", "id": "2814", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0014, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0029, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.005, "KGP_genomes_SAS_maf": 0.0, "gnomad_maf": 0.005896, "gnomad_AFR_maf": 0.0009231, "gnomad_AMR_maf": 0.002055, "gnomad_ASJ_maf": 0.002484, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.01132, "gnomad_NFE_maf": 0.008859, "gnomad_OTH_maf": 0.006211, "gnomad_SAS_maf": 0.002646, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 2.968984, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 185976370, "genomic_position_hg38": 186007238, "chromosome": "1", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.404106", "ref_allele": "A", "alt_allele": "G", "cdna_change": "c.4586A>G", "protein_change": null, "transcript_id": "NM_031935.3", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2814/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2814/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2814/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2814/gene/?format=api" }, "data": { "type": "Gene", "id": "HMCN1" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2814/?format=api" } }, { "type": "SmallVariant", "id": "2815", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0048, "KGP_genomes_AFR_maf": 0.0008, "KGP_genomes_AMR_maf": 0.0086, "KGP_genomes_EAS_maf": 0.0, "KGP_genomes_EUR_maf": 0.0149, "KGP_genomes_SAS_maf": 0.002, "gnomad_maf": 0.008806, "gnomad_AFR_maf": 0.001566, "gnomad_AMR_maf": 0.00486, "gnomad_ASJ_maf": 0.02692, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.006514, "gnomad_NFE_maf": 0.0117, "gnomad_OTH_maf": 0.01148, "gnomad_SAS_maf": 0.006729, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 1.699106, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 52034549, "genomic_position_hg38": 51531295, "chromosome": "19", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.410182", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.292G>T", "protein_change": null, "transcript_id": "NM_001245.7", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1333" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2815/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2815/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2815/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2815/gene/?format=api" }, "data": { "type": "Gene", "id": "SIGLEC6" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2815/?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": 8 } }