Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/NSMF/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "845", "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": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "9", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:59.216514", "ref_allele": null, "alt_allele": null, "cdna_change": "c.1165-14_22del", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI389" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/845/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/845/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/845/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/845/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/845/?format=api" } }, { "type": "SmallVariant", "id": "878", "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": null }, "status": "CU", "genomic_position_hg19": null, "genomic_position_hg38": null, "chromosome": "9", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:59.898917", "ref_allele": null, "alt_allele": null, "cdna_change": "c.1159-14_22del", "protein_change": null, "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI408" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/878/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/878/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/878/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/878/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/878/?format=api" } }, { "type": "SmallVariant", "id": "847", "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": 1.615e-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": 3.61e-05, "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": 2.192767, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140351900, "genomic_position_hg38": 137457448, "chromosome": "9", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.568044", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.587G>A", "protein_change": "p.Arg196His", "transcript_id": "NM_001130969.1", "dbsnp_id": "rs770597015", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI390" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/847/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/847/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/847/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/847/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/847/?format=api" } }, { "type": "SmallVariant", "id": "1084", "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": 0.000232, "gnomad_AFR_maf": 6.203e-05, "gnomad_AMR_maf": 5.783e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.441e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0004529, "gnomad_OTH_maf": 0.0004915, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": 0.0004539, "ESP_EA_maf": 0.0003488 }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 3.471515, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140349707, "genomic_position_hg38": 137455255, "chromosome": "9", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:47.031632", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.757G>A", "protein_change": "p.Ala253Thr", "transcript_id": "NM_015537.4", "dbsnp_id": "rs142726563", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI511" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1084/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1084/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1084/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1084/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1084/?format=api" } }, { "type": "SmallVariant", "id": "1086", "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": 9.202e-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": 0.0001866, "gnomad_OTH_maf": 0.0001639, "gnomad_SAS_maf": 3.267e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": -0.377454, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 140346900, "genomic_position_hg38": 137452448, "chromosome": "9", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:47.044225", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.1160-13C>T", "protein_change": null, "transcript_id": "NM_001130969.3", "dbsnp_id": "rs781275840", "variant_effect": "unknown" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI512" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1086/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1086/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1086/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1086/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1086/?format=api" } }, { "type": "SmallVariant", "id": "1948", "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": "Damaging", "cadd_prediction": 3.939612, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 140348222, "genomic_position_hg38": 137453770, "chromosome": "9", "annotation_flag": "automatically_attributed_and_verified", "lastmodified": "2023-06-06T16:57:52.302259", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.877A>C", "protein_change": "p.Thr293Pro", "transcript_id": "NM_015537.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI898" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1948/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1948/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1948/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1948/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1948/?format=api" } }, { "type": "SmallVariant", "id": "2402", "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": 2.463e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0002208, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.0, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 6.588e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.212949, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140351954, "genomic_position_hg38": 137457502, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.052062", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.533C>A", "protein_change": "p.Thr178Asn", "transcript_id": "NM_001130969.3", "dbsnp_id": "rs747622558", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1112" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2402/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2402/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2402/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2402/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2402/?format=api" } }, { "type": "SmallVariant", "id": "2406", "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": 0.0003234, "gnomad_AFR_maf": 0.0001377, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.003843, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.257e-05, "gnomad_OTH_maf": 0.0002318, "gnomad_SAS_maf": 4.288e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.471873, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140352066, "genomic_position_hg38": 137457614, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.076957", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.421G>A", "protein_change": "p.Ala141Thr", "transcript_id": "NM_001130969.3", "dbsnp_id": "rs758054492", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1114" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2406/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2406/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2406/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2406/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2406/?format=api" } }, { "type": "SmallVariant", "id": "2717", "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": 2.82e-05, "gnomad_AFR_maf": 0.000315, "gnomad_AMR_maf": 5.816e-05, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "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": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.663364, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 140344053, "genomic_position_hg38": 137449601, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.816721", "ref_allele": "T", "alt_allele": "A", "cdna_change": "c.1487A>T", "protein_change": "p.Gln496Leu", "transcript_id": "NM_015537.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1292" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2717/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2717/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2717/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2717/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2717/?format=api" } }, { "type": "SmallVariant", "id": "2819", "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": 0.0, "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": 0.0, "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": "Possibly Damaging", "cadd_prediction": 3.180971, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 140352299, "genomic_position_hg38": 137457847, "chromosome": "9", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:57.435113", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.188C>T", "protein_change": "p.Pro63Leu", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1335" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2819/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2819/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2819/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2819/gene/?format=api" }, "data": { "type": "Gene", "id": "NSMF" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2819/?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": 10 } }