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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: 4-40243567-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=40243567&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 40243567,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000381799.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_004310.5",
"protein_id": "NP_004301.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": "ENST00000381799.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000381799.10",
"protein_id": "ENSP00000371219.4",
"transcript_support_level": 1,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 781,
"cdna_end": null,
"cdna_length": 4181,
"mane_select": "NM_004310.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278359.2",
"protein_id": "NP_001265288.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 947,
"cdna_end": null,
"cdna_length": 4347,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278360.2",
"protein_id": "NP_001265289.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 933,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278361.2",
"protein_id": "NP_001265290.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 909,
"cdna_end": null,
"cdna_length": 4309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278362.2",
"protein_id": "NP_001265291.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 4235,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278363.2",
"protein_id": "NP_001265292.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 793,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278364.2",
"protein_id": "NP_001265293.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1038,
"cdna_end": null,
"cdna_length": 4438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278365.2",
"protein_id": "NP_001265294.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 876,
"cdna_end": null,
"cdna_length": 4276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278366.2",
"protein_id": "NP_001265295.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 4256,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278367.2",
"protein_id": "NP_001265296.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 676,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278368.2",
"protein_id": "NP_001265297.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001278369.2",
"protein_id": "NP_001265298.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 4061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "NM_001440378.1",
"protein_id": "NP_001427307.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000503754.6",
"protein_id": "ENSP00000514769.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 867,
"cdna_end": null,
"cdna_length": 1262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000503941.6",
"protein_id": "ENSP00000426439.2",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000503978.2",
"protein_id": "ENSP00000514775.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 1255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000505618.6",
"protein_id": "ENSP00000425010.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 1267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000507851.6",
"protein_id": "ENSP00000423384.2",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
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"cdna_start": 668,
"cdna_end": null,
"cdna_length": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000508513.6",
"protein_id": "ENSP00000422241.2",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 1007,
"cdna_end": null,
"cdna_length": 1402,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000511121.6",
"protein_id": "ENSP00000420866.2",
"transcript_support_level": 2,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 733,
"cdna_end": null,
"cdna_length": 1128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000511967.6",
"protein_id": "ENSP00000514770.1",
"transcript_support_level": 3,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
"cdna_start": 769,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOH",
"gene_hgnc_id": 686,
"hgvs_c": "c.181G>A",
"hgvs_p": "p.Gly61Ser",
"transcript": "ENST00000513894.6",
"protein_id": "ENSP00000514771.1",
"transcript_support_level": 4,
"aa_start": 61,
"aa_end": null,
"aa_length": 191,
"cds_start": 181,
"cds_end": null,
"cds_length": 576,
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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{
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],
"verdict": "Likely_pathogenic",
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],
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],
"clinvar_disease": "T-cell immunodeficiency with epidermodysplasia verruciformis",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "T-cell immunodeficiency with epidermodysplasia verruciformis",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}