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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: 11-77325367-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77325367&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77325367,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_002576.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1552-2007C>A",
"hgvs_p": null,
"transcript": "NM_002576.5",
"protein_id": "NP_002567.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": -4,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": "ENST00000356341.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1552-2007C>A",
"hgvs_p": null,
"transcript": "ENST00000356341.8",
"protein_id": "ENSP00000348696.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": -4,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": "NM_002576.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "NM_001128620.2",
"protein_id": "NP_001122092.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 3508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "NM_001376268.1",
"protein_id": "NP_001363197.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 3505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "NM_001376269.1",
"protein_id": "NP_001363198.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1780,
"cdna_end": null,
"cdna_length": 3163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "NM_001376270.1",
"protein_id": "NP_001363199.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1777,
"cdna_end": null,
"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "NM_001376271.1",
"protein_id": "NP_001363200.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1912,
"cdna_end": null,
"cdna_length": 3295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "ENST00000278568.8",
"protein_id": "ENSP00000278568.4",
"transcript_support_level": 2,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2091,
"cdna_end": null,
"cdna_length": 2543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1423C>A",
"hgvs_p": "p.Leu475Met",
"transcript": "NM_001376289.1",
"protein_id": "NP_001363218.1",
"transcript_support_level": null,
"aa_start": 475,
"aa_end": null,
"aa_length": 507,
"cds_start": 1423,
"cds_end": null,
"cds_length": 1524,
"cdna_start": 1642,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1267C>A",
"hgvs_p": "p.Leu423Met",
"transcript": "NM_001376302.1",
"protein_id": "NP_001363231.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 455,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1569,
"cdna_end": null,
"cdna_length": 2952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1267C>A",
"hgvs_p": "p.Leu423Met",
"transcript": "ENST00000528203.5",
"protein_id": "ENSP00000433211.1",
"transcript_support_level": 2,
"aa_start": 423,
"aa_end": null,
"aa_length": 455,
"cds_start": 1267,
"cds_end": null,
"cds_length": 1368,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1684C>A",
"hgvs_p": "p.Leu562Met",
"transcript": "XM_047427046.1",
"protein_id": "XP_047283002.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 594,
"cds_start": 1684,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 1856,
"cdna_end": null,
"cdna_length": 3239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "XM_024448557.2",
"protein_id": "XP_024304325.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 3230,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "XM_024448558.2",
"protein_id": "XP_024304326.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
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"cds_start": 1561,
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"cdna_start": 1757,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
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"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "XM_024448559.2",
"protein_id": "XP_024304327.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 2268,
"cdna_end": null,
"cdna_length": 3651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "XM_047427048.1",
"protein_id": "XP_047283004.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
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"cds_start": 1561,
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"cdna_start": 2192,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "XM_047427049.1",
"protein_id": "XP_047283005.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
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"cdna_start": 1933,
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"cdna_length": 3316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "XM_047427050.1",
"protein_id": "XP_047283006.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 5800,
"cdna_end": null,
"cdna_length": 7183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "XM_047427051.1",
"protein_id": "XP_047283007.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "L",
"aa_alt": "M",
"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.1561C>A",
"hgvs_p": "p.Leu521Met",
"transcript": "XM_047427052.1",
"protein_id": "XP_047283008.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 553,
"cds_start": 1561,
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"cdna_start": 1600,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1573-2007C>A",
"hgvs_p": null,
"transcript": "NM_001376272.1",
"protein_id": "NP_001363201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 552,
"cds_start": -4,
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"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3135,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1552-2007C>A",
"hgvs_p": null,
"transcript": "NM_001376273.1",
"protein_id": "NP_001363202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 545,
"cds_start": -4,
"cds_end": null,
"cds_length": 1638,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "PAK1",
"gene_hgnc_id": 8590,
"hgvs_c": "c.1552-2007C>A",
"hgvs_p": null,
"transcript": "NM_001376274.1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.58,
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{
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"BS2"
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}