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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 15-64818037-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=64818037&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 64818037,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286497.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "NM_001286496.2",
"protein_id": "NP_001273425.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 641,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000559239.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286496.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "ENST00000559239.2",
"protein_id": "ENSP00000452792.1",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 641,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001286496.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559239.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "ENST00000333425.10",
"protein_id": "ENSP00000328174.6",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 707,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333425.10"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "ENST00000268043.8",
"protein_id": "ENSP00000268043.4",
"transcript_support_level": 1,
"aa_start": 528,
"aa_end": null,
"aa_length": 641,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268043.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "NM_001286497.2",
"protein_id": "NP_001273426.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 707,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286497.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1595G>A",
"hgvs_p": "p.Arg532His",
"transcript": "ENST00000923751.1",
"protein_id": "ENSP00000593810.1",
"transcript_support_level": null,
"aa_start": 532,
"aa_end": null,
"aa_length": 645,
"cds_start": 1595,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923751.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "NM_025049.4",
"protein_id": "NP_079325.2",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 641,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025049.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "ENST00000880618.1",
"protein_id": "ENSP00000550677.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 641,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880618.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "ENST00000923753.1",
"protein_id": "ENSP00000593812.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 641,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923753.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Arg528His",
"transcript": "ENST00000923755.1",
"protein_id": "ENSP00000593814.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 641,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1926,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923755.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526His",
"transcript": "ENST00000923743.1",
"protein_id": "ENSP00000593802.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 639,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923743.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Arg526His",
"transcript": "ENST00000923757.1",
"protein_id": "ENSP00000593816.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 639,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923757.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Arg524His",
"transcript": "ENST00000923742.1",
"protein_id": "ENSP00000593801.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 637,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923742.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1571G>A",
"hgvs_p": "p.Arg524His",
"transcript": "ENST00000923746.1",
"protein_id": "ENSP00000593805.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 637,
"cds_start": 1571,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923746.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Arg519His",
"transcript": "ENST00000923747.1",
"protein_id": "ENSP00000593806.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 632,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923747.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Arg519His",
"transcript": "ENST00000923750.1",
"protein_id": "ENSP00000593809.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 632,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923750.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Arg510His",
"transcript": "ENST00000923748.1",
"protein_id": "ENSP00000593807.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 623,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923748.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Arg510His",
"transcript": "ENST00000923760.1",
"protein_id": "ENSP00000593819.1",
"transcript_support_level": null,
"aa_start": 510,
"aa_end": null,
"aa_length": 623,
"cds_start": 1529,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923760.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Arg490His",
"transcript": "ENST00000923749.1",
"protein_id": "ENSP00000593808.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 603,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923749.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1460G>A",
"hgvs_p": "p.Arg487His",
"transcript": "ENST00000923745.1",
"protein_id": "ENSP00000593804.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 600,
"cds_start": 1460,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923745.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1457G>A",
"hgvs_p": "p.Arg486His",
"transcript": "ENST00000923752.1",
"protein_id": "ENSP00000593811.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
"aa_length": 599,
"cds_start": 1457,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923752.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PIF1",
"gene_hgnc_id": 26220,
"hgvs_c": "c.1424G>A",
"hgvs_p": "p.Arg475His",
"transcript": "NM_001286499.2",
"protein_id": "NP_001273428.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 588,
"cds_start": 1424,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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"bayesdelnoaf_prediction": "Pathogenic",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Uncertain_significance",
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"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}