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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: 5-150398379-AAAGAAG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=150398379&ref=AAAGAAG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 150398379,
"ref": "AAAGAAG",
"alt": "A",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000643257.2",
"consequences": [
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4377_4382delGAAGAA",
"hgvs_p": "p.Lys1460_Lys1461del",
"transcript": "NM_001371623.1",
"protein_id": "NP_001358552.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1489,
"cds_start": 4377,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 4427,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": "ENST00000643257.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4377_4382delGAAGAA",
"hgvs_p": "p.Lys1460_Lys1461del",
"transcript": "ENST00000643257.2",
"protein_id": "ENSP00000493815.1",
"transcript_support_level": null,
"aa_start": 1459,
"aa_end": null,
"aa_length": 1489,
"cds_start": 4377,
"cds_end": null,
"cds_length": 4470,
"cdna_start": 4427,
"cdna_end": null,
"cdna_length": 5026,
"mane_select": "NM_001371623.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4374_4379delGAAGAA",
"hgvs_p": "p.Lys1459_Lys1460del",
"transcript": "ENST00000504761.6",
"protein_id": "ENSP00000421655.2",
"transcript_support_level": 1,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4374,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4374,
"cdna_end": null,
"cdna_length": 4467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4143_4148delGAAGAA",
"hgvs_p": "p.Lys1382_Lys1383del",
"transcript": "ENST00000323668.11",
"protein_id": "ENSP00000325223.6",
"transcript_support_level": 1,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4143,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4218,
"cdna_end": null,
"cdna_length": 4832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4374_4379delGAAGAA",
"hgvs_p": "p.Lys1459_Lys1460del",
"transcript": "NM_001135243.2",
"protein_id": "NP_001128715.1",
"transcript_support_level": null,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4374,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4424,
"cdna_end": null,
"cdna_length": 5023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4374_4379delGAAGAA",
"hgvs_p": "p.Lys1459_Lys1460del",
"transcript": "ENST00000377797.7",
"protein_id": "ENSP00000367028.4",
"transcript_support_level": 5,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4374,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4482,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4374_4379delGAAGAA",
"hgvs_p": "p.Lys1459_Lys1460del",
"transcript": "ENST00000513346.5",
"protein_id": "ENSP00000427484.1",
"transcript_support_level": 5,
"aa_start": 1458,
"aa_end": null,
"aa_length": 1488,
"cds_start": 4374,
"cds_end": null,
"cds_length": 4467,
"cdna_start": 4374,
"cdna_end": null,
"cdna_length": 4646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4263_4268delGAAGAA",
"hgvs_p": "p.Lys1422_Lys1423del",
"transcript": "NM_001135244.2",
"protein_id": "NP_001128716.1",
"transcript_support_level": null,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4263,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4313,
"cdna_end": null,
"cdna_length": 4912,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4263_4268delGAAGAA",
"hgvs_p": "p.Lys1422_Lys1423del",
"transcript": "ENST00000439160.6",
"protein_id": "ENSP00000406888.2",
"transcript_support_level": 5,
"aa_start": 1421,
"aa_end": null,
"aa_length": 1451,
"cds_start": 4263,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 4296,
"cdna_end": null,
"cdna_length": 4644,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4260_4265delGAAGAA",
"hgvs_p": "p.Lys1421_Lys1422del",
"transcript": "NM_001195141.2",
"protein_id": "NP_001182070.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4260,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 4310,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4260_4265delGAAGAA",
"hgvs_p": "p.Lys1421_Lys1422del",
"transcript": "ENST00000427724.7",
"protein_id": "ENSP00000390717.3",
"transcript_support_level": 5,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1450,
"cds_start": 4260,
"cds_end": null,
"cds_length": 4353,
"cdna_start": 4288,
"cdna_end": null,
"cdna_length": 4800,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4146_4151delGAAGAA",
"hgvs_p": "p.Lys1383_Lys1384del",
"transcript": "NM_001135245.2",
"protein_id": "NP_001128717.1",
"transcript_support_level": null,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1412,
"cds_start": 4146,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 4196,
"cdna_end": null,
"cdna_length": 4795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4146_4151delGAAGAA",
"hgvs_p": "p.Lys1383_Lys1384del",
"transcript": "ENST00000445265.6",
"protein_id": "ENSP00000409944.2",
"transcript_support_level": 5,
"aa_start": 1382,
"aa_end": null,
"aa_length": 1412,
"cds_start": 4146,
"cds_end": null,
"cds_length": 4239,
"cdna_start": 4227,
"cdna_end": null,
"cdna_length": 4825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4143_4148delGAAGAA",
"hgvs_p": "p.Lys1382_Lys1383del",
"transcript": "NM_000356.4",
"protein_id": "NP_000347.2",
"transcript_support_level": null,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4143,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4193,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4143_4148delGAAGAA",
"hgvs_p": "p.Lys1382_Lys1383del",
"transcript": "NM_001437406.1",
"protein_id": "NP_001424335.1",
"transcript_support_level": null,
"aa_start": 1381,
"aa_end": null,
"aa_length": 1411,
"cds_start": 4143,
"cds_end": null,
"cds_length": 4236,
"cdna_start": 4193,
"cdna_end": null,
"cdna_length": 4792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4032_4037delGAAGAA",
"hgvs_p": "p.Lys1345_Lys1346del",
"transcript": "ENST00000650162.1",
"protein_id": "ENSP00000497075.1",
"transcript_support_level": null,
"aa_start": 1344,
"aa_end": null,
"aa_length": 1357,
"cds_start": 4032,
"cds_end": null,
"cds_length": 4076,
"cdna_start": 4150,
"cdna_end": null,
"cdna_length": 4194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.474_479delGAAGAA",
"hgvs_p": "p.Lys159_Lys160del",
"transcript": "ENST00000515516.1",
"protein_id": "ENSP00000426471.1",
"transcript_support_level": 5,
"aa_start": 158,
"aa_end": null,
"aa_length": 188,
"cds_start": 474,
"cds_end": null,
"cds_length": 567,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4488_4493delGAAGAA",
"hgvs_p": "p.Lys1497_Lys1498del",
"transcript": "XM_005268502.5",
"protein_id": "XP_005268559.1",
"transcript_support_level": null,
"aa_start": 1496,
"aa_end": null,
"aa_length": 1526,
"cds_start": 4488,
"cds_end": null,
"cds_length": 4581,
"cdna_start": 4538,
"cdna_end": null,
"cdna_length": 5137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4485_4490delGAAGAA",
"hgvs_p": "p.Lys1496_Lys1497del",
"transcript": "XM_005268503.5",
"protein_id": "XP_005268560.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4485,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 4535,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4485_4490delGAAGAA",
"hgvs_p": "p.Lys1496_Lys1497del",
"transcript": "XM_005268504.5",
"protein_id": "XP_005268561.1",
"transcript_support_level": null,
"aa_start": 1495,
"aa_end": null,
"aa_length": 1525,
"cds_start": 4485,
"cds_end": null,
"cds_length": 4578,
"cdna_start": 4535,
"cdna_end": null,
"cdna_length": 5134,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCOF1",
"gene_hgnc_id": 11654,
"hgvs_c": "c.4482_4487delGAAGAA",
"hgvs_p": "p.Lys1495_Lys1496del",
"transcript": "XM_047417645.1",
"protein_id": "XP_047273601.1",
"transcript_support_level": null,
"aa_start": 1494,
"aa_end": null,
"aa_length": 1524,
"cds_start": 4482,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 4532,
"cdna_end": null,
"cdna_length": 5131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "KKK",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
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"bayesdelnoaf_score": null,
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{
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],
"verdict": "Likely_benign",
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],
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Treacher Collins syndrome 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}