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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: 16-67000646-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67000646&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67000646,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001364782.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "NM_001364782.1",
"protein_id": "NP_001351711.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 561,
"cds_start": 269,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000648724.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001364782.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "ENST00000648724.3",
"protein_id": "ENSP00000497868.2",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 561,
"cds_start": 269,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001364782.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648724.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.158A>C",
"hgvs_p": "p.Gln53Pro",
"transcript": "ENST00000538199.5",
"protein_id": "ENSP00000441103.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 454,
"cds_start": 158,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538199.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.-26A>C",
"hgvs_p": null,
"transcript": "ENST00000540579.6",
"protein_id": "ENSP00000441907.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540579.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Gln130Pro",
"transcript": "ENST00000862247.1",
"protein_id": "ENSP00000532306.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 608,
"cds_start": 389,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862247.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Gln130Pro",
"transcript": "ENST00000862245.1",
"protein_id": "ENSP00000532304.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 605,
"cds_start": 389,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862245.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Gln130Pro",
"transcript": "ENST00000948592.1",
"protein_id": "ENSP00000618651.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 600,
"cds_start": 389,
"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": "ENST00000948592.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "ENST00000862243.1",
"protein_id": "ENSP00000532302.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 566,
"cds_start": 269,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862243.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "ENST00000862242.1",
"protein_id": "ENSP00000532301.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 565,
"cds_start": 269,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862242.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Gln130Pro",
"transcript": "ENST00000862246.1",
"protein_id": "ENSP00000532305.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 562,
"cds_start": 389,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862246.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "ENST00000862250.1",
"protein_id": "ENSP00000532309.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 560,
"cds_start": 269,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862250.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.389A>C",
"hgvs_p": "p.Gln130Pro",
"transcript": "ENST00000862244.1",
"protein_id": "ENSP00000532303.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 558,
"cds_start": 389,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862244.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "ENST00000862248.1",
"protein_id": "ENSP00000532307.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 534,
"cds_start": 269,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862248.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "ENST00000862249.1",
"protein_id": "ENSP00000532308.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 518,
"cds_start": 269,
"cds_end": null,
"cds_length": 1557,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862249.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "NM_173815.7",
"protein_id": "NP_776176.5",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 468,
"cds_start": 269,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173815.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.269A>C",
"hgvs_p": "p.Gln90Pro",
"transcript": "ENST00000540947.6",
"protein_id": "ENSP00000444052.2",
"transcript_support_level": 2,
"aa_start": 90,
"aa_end": null,
"aa_length": 468,
"cds_start": 269,
"cds_end": null,
"cds_length": 1407,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540947.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.458A>C",
"hgvs_p": "p.Gln153Pro",
"transcript": "XM_011523021.3",
"protein_id": "XP_011521323.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 628,
"cds_start": 458,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523021.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.458A>C",
"hgvs_p": "p.Gln153Pro",
"transcript": "XM_011523023.3",
"protein_id": "XP_011521325.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 624,
"cds_start": 458,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523023.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.458A>C",
"hgvs_p": "p.Gln153Pro",
"transcript": "XM_011523025.3",
"protein_id": "XP_011521327.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 601,
"cds_start": 458,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523025.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.458A>C",
"hgvs_p": "p.Gln153Pro",
"transcript": "XM_017023160.2",
"protein_id": "XP_016878649.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 597,
"cds_start": 458,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023160.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.338A>C",
"hgvs_p": "p.Gln113Pro",
"transcript": "XM_011523026.3",
"protein_id": "XP_011521328.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 588,
"cds_start": 338,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523026.3"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CES4A",
"gene_hgnc_id": 26741,
"hgvs_c": "c.458A>C",
"hgvs_p": "p.Gln153Pro",
"transcript": "XM_011523027.3",
"protein_id": "XP_011521329.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 585,
"cds_start": 458,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523027.3"
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{
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}