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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: 11-111786460-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111786460&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111786460,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000616540.5",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Tyr598Tyr",
"transcript": "NM_024740.2",
"protein_id": "NP_079016.2",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 618,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": "ENST00000616540.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Tyr598Tyr",
"transcript": "ENST00000616540.5",
"protein_id": "ENSP00000482437.1",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 618,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 6158,
"mane_select": "NM_024740.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258529",
"gene_hgnc_id": null,
"hgvs_c": "c.2472C>T",
"hgvs_p": "p.Tyr824Tyr",
"transcript": "ENST00000622211.4",
"protein_id": "ENSP00000482396.1",
"transcript_support_level": 2,
"aa_start": 824,
"aa_end": null,
"aa_length": 844,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2535,
"cdna_start": 2765,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Tyr591Tyr",
"transcript": "ENST00000614444.4",
"protein_id": "ENSP00000484200.1",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 611,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 2028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Tyr420Tyr",
"transcript": "ENST00000398006.6",
"protein_id": "ENSP00000381090.2",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 440,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 2345,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Tyr598Tyr",
"transcript": "NM_001441203.1",
"protein_id": "NP_001428132.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 629,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 5851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Tyr591Tyr",
"transcript": "NM_001352417.1",
"protein_id": "NP_001339346.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 622,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 5830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1773C>T",
"hgvs_p": "p.Tyr591Tyr",
"transcript": "NM_001077690.1",
"protein_id": "NP_001071158.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 611,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1836,
"cdna_start": 1872,
"cdna_end": null,
"cdna_length": 6137,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Tyr557Tyr",
"transcript": "NM_001441206.1",
"protein_id": "NP_001428135.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 577,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1734,
"cdna_start": 1770,
"cdna_end": null,
"cdna_length": 6035,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1650C>T",
"hgvs_p": "p.Tyr550Tyr",
"transcript": "NM_001352418.1",
"protein_id": "NP_001339347.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 570,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1713,
"cdna_start": 1749,
"cdna_end": null,
"cdna_length": 6014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Tyr427Tyr",
"transcript": "NM_001352419.1",
"protein_id": "NP_001339348.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 458,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 2170,
"cdna_end": null,
"cdna_length": 6128,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Tyr420Tyr",
"transcript": "NM_001352415.1",
"protein_id": "NP_001339344.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 451,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 6111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Tyr420Tyr",
"transcript": "NM_001352416.1",
"protein_id": "NP_001339345.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 451,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 2149,
"cdna_end": null,
"cdna_length": 6107,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Tyr427Tyr",
"transcript": "NM_001077691.2",
"protein_id": "NP_001071159.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 447,
"cds_start": 1281,
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"cdna_start": 2190,
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"cdna_length": 6455,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Tyr427Tyr",
"transcript": "NM_001352413.1",
"protein_id": "NP_001339342.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 447,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1897,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Tyr427Tyr",
"transcript": "NM_001352414.2",
"protein_id": "NP_001339343.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
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"cds_start": 1281,
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"cdna_start": 2024,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>T",
"hgvs_p": "p.Tyr427Tyr",
"transcript": "ENST00000531154.5",
"protein_id": "ENSP00000435517.1",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 447,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 1754,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Tyr420Tyr",
"transcript": "NM_001077692.2",
"protein_id": "NP_001071160.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 440,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 6434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Tyr420Tyr",
"transcript": "NM_001352409.1",
"protein_id": "NP_001339338.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 440,
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"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Tyr420Tyr",
"transcript": "NM_001352410.1",
"protein_id": "NP_001339339.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 440,
"cds_start": 1260,
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"cdna_start": 1876,
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"cdna_length": 6141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Tyr420Tyr",
"transcript": "NM_001352411.2",
"protein_id": "NP_001339340.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 440,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2173,
"cdna_end": null,
"cdna_length": 6438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"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": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>T",
"hgvs_p": "p.Tyr420Tyr",
"transcript": "NM_001352412.2",
"protein_id": "NP_001339341.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 440,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1323,
"cdna_start": 2003,
"cdna_end": null,
"cdna_length": 6268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
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"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000622211.4",
"gene_symbol": "ENSG00000258529",
"hgnc_id": null,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2472C>T",
"hgvs_p": "p.Tyr824Tyr"
}
],
"clinvar_disease": "ALG9 congenital disorder of glycosylation,Gillessen-Kaesbach-Nishimura syndrome,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:1",
"phenotype_combined": "ALG9 congenital disorder of glycosylation|not provided|Gillessen-Kaesbach-Nishimura syndrome;ALG9 congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}