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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: 11-77332861-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77332861&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77332861,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000356341.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_002576.5",
"protein_id": "NP_002567.3",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": "ENST00000356341.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "ENST00000356341.8",
"protein_id": "ENSP00000348696.4",
"transcript_support_level": 1,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": "NM_002576.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001128620.2",
"protein_id": "NP_001122092.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 553,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1984,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376268.1",
"protein_id": "NP_001363197.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 553,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376269.1",
"protein_id": "NP_001363198.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 553,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376270.1",
"protein_id": "NP_001363199.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 553,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376271.1",
"protein_id": "NP_001363200.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 553,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1771,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "ENST00000278568.8",
"protein_id": "ENSP00000278568.4",
"transcript_support_level": 2,
"aa_start": 474,
"aa_end": null,
"aa_length": 553,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1950,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1441T>C",
"hgvs_p": "p.Tyr481His",
"transcript": "NM_001376272.1",
"protein_id": "NP_001363201.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 552,
"cds_start": 1441,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1660,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376273.1",
"protein_id": "NP_001363202.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376274.1",
"protein_id": "NP_001363203.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1639,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376275.1",
"protein_id": "NP_001363204.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1706,
"cdna_end": null,
"cdna_length": 3181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376276.1",
"protein_id": "NP_001363205.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2159,
"cdna_end": null,
"cdna_length": 3634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376277.1",
"protein_id": "NP_001363206.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2127,
"cdna_end": null,
"cdna_length": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376278.1",
"protein_id": "NP_001363207.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 3111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376279.1",
"protein_id": "NP_001363208.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1703,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376280.1",
"protein_id": "NP_001363209.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 3766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376281.1",
"protein_id": "NP_001363210.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 3526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376282.1",
"protein_id": "NP_001363211.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376283.1",
"protein_id": "NP_001363212.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2116,
"cdna_end": null,
"cdna_length": 3591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376284.1",
"protein_id": "NP_001363213.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 3548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
"hgvs_p": "p.Tyr474His",
"transcript": "NM_001376285.1",
"protein_id": "NP_001363214.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 545,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1946,
"cdna_end": null,
"cdna_length": 3421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1420T>C",
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"bayesdelnoaf_score": 0.08,
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Intellectual developmental disorder with macrocephaly, seizures, and speech delay",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}