Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/BBS2/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "86", "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": "16", "annotation_flag": "not_found_in_databases", "lastmodified": "2021-10-18T11:00:46.494079", "ref_allele": null, "alt_allele": null, "cdna_change": null, "protein_change": "p.Leu168fsTer170", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "frameshift" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI041" }, { "type": "Combination", "id": "OLI226" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/86/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/86/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/86/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/86/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/86/?format=api" } }, { "type": "SmallVariant", "id": "436", "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": "16", "annotation_flag": "ambiguous_variant", "lastmodified": "2021-12-06T15:21:13.749169", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.209G>A", "protein_change": "p.Ser70Asn", "transcript_id": "NM_031885.4", "dbsnp_id": "None", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI224" }, { "type": "Combination", "id": "OLI832" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/436/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/436/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/436/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/436/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/436/?format=api" } }, { "type": "SmallVariant", "id": "85", "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": 1.194e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 5.437e-05, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 1.761e-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": null, "cadd_prediction": 7.08939, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56540103, "genomic_position_hg38": 56506191, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.030426", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.646C>T", "protein_change": "p.Arg216Ter", "transcript_id": "NM_031885.3", "dbsnp_id": "rs121908180", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 4 }, "data": [ { "type": "Combination", "id": "OLI041" }, { "type": "Combination", "id": "OLI170" }, { "type": "Combination", "id": "OLI171" }, { "type": "Combination", "id": "OLI226" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/85/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/85/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/85/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/85/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/85/?format=api" } }, { "type": "SmallVariant", "id": "126", "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": 4.695795, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 56536365, "genomic_position_hg38": 56502453, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.269689", "ref_allele": "C", "alt_allele": "T", "cdna_change": null, "protein_change": "p.Arg315Gln", "transcript_id": null, "dbsnp_id": "rs544773389", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI064" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/126/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/126/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/126/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/126/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/126/?format=api" } }, { "type": "SmallVariant", "id": "127", "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": 6.374925, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56553657, "genomic_position_hg38": 56519745, "chromosome": "16", "annotation_flag": "manually_attributed", "lastmodified": "2023-06-06T16:57:41.275751", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.117+1G>C", "protein_change": null, "transcript_id": "NM_031885.5", "dbsnp_id": "NA", "variant_effect": "splicing" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI064" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/127/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/127/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/127/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/127/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/127/?format=api" } }, { "type": "SmallVariant", "id": "128", "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": 1.591e-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": 3.518e-05, "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": 4.093333, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56536263, "genomic_position_hg38": 56502351, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.281672", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Leu349Trp", "transcript_id": null, "dbsnp_id": "rs752280639", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI065" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/128/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/128/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/128/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/128/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/128/?format=api" } }, { "type": "SmallVariant", "id": "131", "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": 8.114048, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56553703, "genomic_position_hg38": 56519791, "chromosome": "16", "annotation_flag": "manually_corrected", "lastmodified": "2023-06-06T16:57:41.293749", "ref_allele": "G", "alt_allele": "T", "cdna_change": "c.72C>A", "protein_change": "p.Tyr24Ter", "transcript_id": "NM_031885.5", "dbsnp_id": "rs121908175", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 3 }, "data": [ { "type": "Combination", "id": "OLI067" }, { "type": "Combination", "id": "OLI170" }, { "type": "Combination", "id": "OLI225" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/131/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/131/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/131/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/131/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/131/?format=api" } }, { "type": "SmallVariant", "id": "132", "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": 1.99e-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": 3.519e-05, "gnomad_OTH_maf": 0.0001632, "gnomad_SAS_maf": 0.0, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": null, "pp2_hvar_prediction": null, "cadd_prediction": 7.380028, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56548535, "genomic_position_hg38": 56514623, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.299594", "ref_allele": "G", "alt_allele": "A", "cdna_change": null, "protein_change": "p.Gln59Ter", "transcript_id": null, "dbsnp_id": "rs121908176", "variant_effect": "nonsense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI067" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/132/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/132/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/132/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/132/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/132/?format=api" } }, { "type": "SmallVariant", "id": "165", "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": 3.69612, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56545168, "genomic_position_hg38": 56511256, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.488022", "ref_allele": "A", "alt_allele": "C", "cdna_change": null, "protein_change": "p.Leu125Arg", "transcript_id": null, "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI081" }, { "type": "Combination", "id": "OLI082" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/165/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/165/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/165/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/165/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/165/?format=api" } }, { "type": "SmallVariant", "id": "202", "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": 4.374e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 0.0009921, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 8.792e-06, "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": 3.881419, "mutationtaster_prediction": "Disease causing" }, "status": "CU", "genomic_position_hg19": 56548399, "genomic_position_hg38": 56514487, "chromosome": "16", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:41.708215", "ref_allele": "T", "alt_allele": "G", "cdna_change": "c.311A>C", "protein_change": "p.Asp104Ala", "transcript_id": "NM_031885.3", "dbsnp_id": "rs121908179", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 2 }, "data": [ { "type": "Combination", "id": "OLI098" }, { "type": "Combination", "id": "OLI144" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/202/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/202/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/202/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/202/gene/?format=api" }, "data": { "type": "Gene", "id": "BBS2" } } }, "links": { "self": 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