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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: 10-73499080-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=73499080&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 73499080,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000687698.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Arg1535His",
"transcript": "NM_001391956.1",
"protein_id": "NP_001378885.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4604,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 5250,
"cdna_end": null,
"cdna_length": 6792,
"mane_select": "ENST00000687698.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Arg1535His",
"transcript": "ENST00000687698.1",
"protein_id": "ENSP00000510226.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4604,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 5250,
"cdna_end": null,
"cdna_length": 6792,
"mane_select": "NM_001391956.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.*1569G>A",
"hgvs_p": null,
"transcript": "ENST00000422491.7",
"protein_id": "ENSP00000407368.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 837,
"cds_start": -4,
"cds_end": null,
"cds_length": 2514,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PPP3CB-AS1",
"gene_hgnc_id": 50750,
"hgvs_c": "n.1206-515C>T",
"hgvs_p": null,
"transcript": "ENST00000422977.3",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2541,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4670G>A",
"hgvs_p": "p.Arg1557His",
"transcript": "NM_001391941.1",
"protein_id": "NP_001378870.1",
"transcript_support_level": null,
"aa_start": 1557,
"aa_end": null,
"aa_length": 1706,
"cds_start": 4670,
"cds_end": null,
"cds_length": 5121,
"cdna_start": 5418,
"cdna_end": null,
"cdna_length": 6960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Arg1535His",
"transcript": "NM_001391953.1",
"protein_id": "NP_001378882.1",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4604,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 4922,
"cdna_end": null,
"cdna_length": 6464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Arg1535His",
"transcript": "NM_152586.4",
"protein_id": "NP_689799.3",
"transcript_support_level": null,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4604,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 4666,
"cdna_end": null,
"cdna_length": 6208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Arg1535His",
"transcript": "ENST00000339859.8",
"protein_id": "ENSP00000345216.4",
"transcript_support_level": 5,
"aa_start": 1535,
"aa_end": null,
"aa_length": 1684,
"cds_start": 4604,
"cds_end": null,
"cds_length": 5055,
"cdna_start": 4705,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4484G>A",
"hgvs_p": "p.Arg1495His",
"transcript": "ENST00000689425.1",
"protein_id": "ENSP00000508413.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1644,
"cds_start": 4484,
"cds_end": null,
"cds_length": 4935,
"cdna_start": 5246,
"cdna_end": null,
"cdna_length": 6776,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4463G>A",
"hgvs_p": "p.Arg1488His",
"transcript": "NM_001391949.1",
"protein_id": "NP_001378878.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4463,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 4525,
"cdna_end": null,
"cdna_length": 6067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4463G>A",
"hgvs_p": "p.Arg1488His",
"transcript": "NM_001391952.1",
"protein_id": "NP_001378881.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4463,
"cds_end": null,
"cds_length": 4914,
"cdna_start": 5089,
"cdna_end": null,
"cdna_length": 6631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4463G>A",
"hgvs_p": "p.Arg1488His",
"transcript": "ENST00000681793.1",
"protein_id": "ENSP00000505692.1",
"transcript_support_level": null,
"aa_start": 1488,
"aa_end": null,
"aa_length": 1637,
"cds_start": 4463,
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"cds_length": 4914,
"cdna_start": 5228,
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"cdna_length": 6758,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Arg1478His",
"transcript": "NM_001378208.1",
"protein_id": "NP_001365137.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4433,
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"cds_length": 4884,
"cdna_start": 5181,
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"cdna_length": 6723,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Arg1478His",
"transcript": "NM_001378209.1",
"protein_id": "NP_001365138.1",
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"cdna_start": 5226,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Arg1478His",
"transcript": "NM_001378210.1",
"protein_id": "NP_001365139.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4433,
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"cdna_start": 4515,
"cdna_end": null,
"cdna_length": 6057,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Arg1478His",
"transcript": "NM_001391945.1",
"protein_id": "NP_001378874.1",
"transcript_support_level": null,
"aa_start": 1478,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Arg1478His",
"transcript": "NM_001391946.1",
"protein_id": "NP_001378875.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
"aa_length": 1627,
"cds_start": 4433,
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"cdna_start": 4721,
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"cdna_length": 6263,
"mane_select": null,
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"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Arg1478His",
"transcript": "NM_001391948.1",
"protein_id": "NP_001378877.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
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"cds_start": 4433,
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"cdna_start": 4495,
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"mane_select": null,
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"feature": null
},
{
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"aa_alt": "H",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Arg1478His",
"transcript": "NM_001391954.1",
"protein_id": "NP_001378883.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4433G>A",
"hgvs_p": "p.Arg1478His",
"transcript": "NM_001391955.1",
"protein_id": "NP_001378884.1",
"transcript_support_level": null,
"aa_start": 1478,
"aa_end": null,
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"cds_start": 4433,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4418G>A",
"hgvs_p": "p.Arg1473His",
"transcript": "NM_001320437.2",
"protein_id": "NP_001307366.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1622,
"cds_start": 4418,
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"cds_length": 4869,
"cdna_start": 4500,
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"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
"hgvs_c": "c.4313G>A",
"hgvs_p": "p.Arg1438His",
"transcript": "NM_001350995.2",
"protein_id": "NP_001337924.1",
"transcript_support_level": null,
"aa_start": 1438,
"aa_end": null,
"aa_length": 1587,
"cds_start": 4313,
"cds_end": null,
"cds_length": 4764,
"cdna_start": 4601,
"cdna_end": null,
"cdna_length": 6143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP54",
"gene_hgnc_id": 23513,
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"gene_symbol": "USP54",
"hgnc_id": 23513,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4604G>A",
"hgvs_p": "p.Arg1535His"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000422977.3",
"gene_symbol": "PPP3CB-AS1",
"hgnc_id": 50750,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1206-515C>T",
"hgvs_p": null
}
],
"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
}