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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: 11-77323331-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77323331&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77323331,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_002576.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.Leu527Leu",
"transcript": "NM_002576.5",
"protein_id": "NP_002567.3",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 545,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": "ENST00000356341.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.Leu527Leu",
"transcript": "ENST00000356341.8",
"protein_id": "ENSP00000348696.4",
"transcript_support_level": 1,
"aa_start": 527,
"aa_end": null,
"aa_length": 545,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2145,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": "NM_002576.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "NM_001128620.2",
"protein_id": "NP_001122092.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "NM_001376268.1",
"protein_id": "NP_001363197.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "NM_001376269.1",
"protein_id": "NP_001363198.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1849,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "NM_001376270.1",
"protein_id": "NP_001363199.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1846,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "NM_001376271.1",
"protein_id": "NP_001363200.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1981,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "ENST00000278568.8",
"protein_id": "ENSP00000278568.4",
"transcript_support_level": 2,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2160,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1492C>T",
"hgvs_p": "p.Leu498Phe",
"transcript": "NM_001376289.1",
"protein_id": "NP_001363218.1",
"transcript_support_level": null,
"aa_start": 498,
"aa_end": null,
"aa_length": 507,
"cds_start": 1492,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1711,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Leu446Phe",
"transcript": "NM_001376302.1",
"protein_id": "NP_001363231.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 455,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1638,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1336C>T",
"hgvs_p": "p.Leu446Phe",
"transcript": "ENST00000528203.5",
"protein_id": "ENSP00000433211.1",
"transcript_support_level": 2,
"aa_start": 446,
"aa_end": null,
"aa_length": 455,
"cds_start": 1336,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1753C>T",
"hgvs_p": "p.Leu585Phe",
"transcript": "XM_047427046.1",
"protein_id": "XP_047283002.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 594,
"cds_start": 1753,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "XM_024448557.2",
"protein_id": "XP_024304325.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1916,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "XM_024448558.2",
"protein_id": "XP_024304326.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1826,
"cdna_end": null,
"cdna_length": 3140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "XM_024448559.2",
"protein_id": "XP_024304327.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2337,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "XM_047427048.1",
"protein_id": "XP_047283004.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2261,
"cdna_end": null,
"cdna_length": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "XM_047427049.1",
"protein_id": "XP_047283005.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2002,
"cdna_end": null,
"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "XM_047427050.1",
"protein_id": "XP_047283006.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 5869,
"cdna_end": null,
"cdna_length": 7183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "XM_047427051.1",
"protein_id": "XP_047283007.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
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"cds_length": 1662,
"cdna_start": 2258,
"cdna_end": null,
"cdna_length": 3572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1630C>T",
"hgvs_p": "p.Leu544Phe",
"transcript": "XM_047427052.1",
"protein_id": "XP_047283008.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 553,
"cds_start": 1630,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1669,
"cdna_end": null,
"cdna_length": 2983,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1602C>T",
"hgvs_p": "p.Leu534Leu",
"transcript": "NM_001376272.1",
"protein_id": "NP_001363201.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 552,
"cds_start": 1602,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1821,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1581C>T",
"hgvs_p": "p.Leu527Leu",
"transcript": "NM_001376273.1",
"protein_id": "NP_001363202.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 545,
"cds_start": 1581,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAK1",
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{
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}
],
"message": null
}