Variant List
This API endpoint handles listing (/variants) and retrieval (/variants/<ID>/) of genetic variants from the database
GET /api/genes/SEMA7A/variants/?format=api
{ "data": [ { "type": "SmallVariant", "id": "775", "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": 4.064071, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74704272, "genomic_position_hg38": 74411931, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:45.142668", "ref_allele": "A", "alt_allele": "G", "cdna_change": null, "protein_change": "p.Phe459Ser", "transcript_id": null, "dbsnp_id": "rs1175151071", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI354" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/775/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/775/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/775/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/775/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/775/?format=api" } }, { "type": "SmallVariant", "id": "1895", "attributes": { "frequencies": { "KGP_genomes_maf": 0.0008, "KGP_genomes_AFR_maf": 0.0, "KGP_genomes_AMR_maf": 0.0, "KGP_genomes_EAS_maf": 0.003, "KGP_genomes_EUR_maf": 0.0, "KGP_genomes_SAS_maf": 0.001, "gnomad_maf": 0.0003953, "gnomad_AFR_maf": 0.0001248, "gnomad_AMR_maf": 0.0, "gnomad_ASJ_maf": 9.946e-05, "gnomad_EAS_maf": 0.004104, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 0.000159, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 9.801e-05, "ESP_AA_maf": 0.0, "ESP_EA_maf": 0.0001164 }, "predictions": { "sift_prediction": "Deleterious", "pp2_hvar_prediction": "Damaging", "cadd_prediction": 4.1882, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74710241, "genomic_position_hg38": 74417900, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:51.963547", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.442C>T", "protein_change": "p.Arg148Trp", "transcript_id": "NM_003612.4", "dbsnp_id": "rs200895370", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI866" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1895/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1895/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1895/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1895/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1895/?format=api" } }, { "type": "SmallVariant", "id": "1940", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.128611, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74703979, "genomic_position_hg38": 74411638, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.256861", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1000G>A", "protein_change": "p.Val334Ile", "transcript_id": "NM_003612.4", "dbsnp_id": "NA", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI891" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1940/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1940/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1940/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1940/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1940/?format=api" } }, { "type": "SmallVariant", "id": "1965", "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": "Tolerated", "pp2_hvar_prediction": "Unknown", "cadd_prediction": 2.055351, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74726146, "genomic_position_hg38": 74433805, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.412366", "ref_allele": "C", "alt_allele": "A", "cdna_change": "c.114G>T", "protein_change": "p.Trp38Cys", "transcript_id": "NM_003612.4", "dbsnp_id": "rs1407896638", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI910" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1965/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1965/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1965/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1965/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1965/?format=api" } }, { "type": "SmallVariant", "id": "1972", "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": 3.977e-06, "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": 8.791e-06, "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": 3.611645, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74706938, "genomic_position_hg38": 74414597, "chromosome": "15", "annotation_flag": "automatically_attributed", "lastmodified": "2023-06-06T16:57:52.457948", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1244G>A", "protein_change": "p.Arg415His", "transcript_id": "NM_003612.4", "dbsnp_id": "rs771316934", "variant_effect": "missense" }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI914" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/1972/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/1972/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/1972/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/1972/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/1972/?format=api" } }, { "type": "SmallVariant", "id": "2580", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 2.71389, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74703165, "genomic_position_hg38": 74410824, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:55.972746", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.1801G>A", "protein_change": "p.Glu601Lys", "transcript_id": "NM_003612.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1214" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2580/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2580/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2580/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2580/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2580/?format=api" } }, { "type": "SmallVariant", "id": "2673", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.594937, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74726145, "genomic_position_hg38": 74433804, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.549325", "ref_allele": "C", "alt_allele": "T", "cdna_change": "c.115G>A", "protein_change": "p.Ala39Thr", "transcript_id": "NM_003612.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1267" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2673/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2673/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2673/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2673/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2673/?format=api" } }, { "type": "SmallVariant", "id": "2711", "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": 4e-06, "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": 8.866e-06, "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": 1.757474, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74704012, "genomic_position_hg38": 74411671, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.780811", "ref_allele": "C", "alt_allele": "G", "cdna_change": "c.1462G>C", "protein_change": "p.Val488Leu", "transcript_id": "NM_003612.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1287" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2711/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2711/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2711/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2711/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2711/?format=api" } }, { "type": "SmallVariant", "id": "2733", "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": 4.397e-05, "gnomad_AFR_maf": 0.0, "gnomad_AMR_maf": 0.0001157, "gnomad_ASJ_maf": 0.0, "gnomad_EAS_maf": 0.0, "gnomad_FIN_maf": 0.0, "gnomad_NFE_maf": 5.306e-05, "gnomad_OTH_maf": 0.0, "gnomad_SAS_maf": 3.266e-05, "ESP_AA_maf": null, "ESP_EA_maf": null }, "predictions": { "sift_prediction": "Tolerated", "pp2_hvar_prediction": "Possibly Damaging", "cadd_prediction": 2.633917, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74710277, "genomic_position_hg38": 74417936, "chromosome": "15", "annotation_flag": null, "lastmodified": "2023-06-06T16:57:56.913673", "ref_allele": "G", "alt_allele": "A", "cdna_change": "c.406C>T", "protein_change": "p.Arg136Trp", "transcript_id": "NM_003612.5", "dbsnp_id": "NA", "variant_effect": null }, "relationships": { "in_combination": { "meta": { "count": 1 }, "data": [ { "type": "Combination", "id": "OLI1302" } ], "links": { "self": "https://olida.ibsquare.be/api/variants/2733/relationships/in_combination?format=api", "related": "https://olida.ibsquare.be/api/variants/2733/combinations/?format=api" } }, "gene_name": { "links": { "self": "https://olida.ibsquare.be/api/variants/2733/relationships/gene_name?format=api", "related": "https://olida.ibsquare.be/api/variants/2733/gene/?format=api" }, "data": { "type": "Gene", "id": "SEMA7A" } } }, "links": { "self": "https://olida.ibsquare.be/api/variants/2733/?format=api" } }, { "type": "SmallVariant", "id": "2961", "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": "Tolerated", "pp2_hvar_prediction": "Benign", "cadd_prediction": 0.916175, "mutationtaster_prediction": "Polymorphism" }, "status": "CU", "genomic_position_hg19": 74703103, "genomic_position_hg38": 74410762, "chromosome": "15", "annotation_flag": null, "lastmodified": 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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 } }