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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: 18-21508536-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=21508536&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 21508536,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000424526.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4680C>A",
"hgvs_p": "p.Tyr1560*",
"transcript": "NM_001142966.3",
"protein_id": "NP_001136438.1",
"transcript_support_level": null,
"aa_start": 1560,
"aa_end": null,
"aa_length": 1923,
"cds_start": 4680,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 4961,
"cdna_end": null,
"cdna_length": 9344,
"mane_select": "ENST00000424526.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4680C>A",
"hgvs_p": "p.Tyr1560*",
"transcript": "ENST00000424526.7",
"protein_id": "ENSP00000412060.1",
"transcript_support_level": 5,
"aa_start": 1560,
"aa_end": null,
"aa_length": 1923,
"cds_start": 4680,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 4961,
"cdna_end": null,
"cdna_length": 9344,
"mane_select": "NM_001142966.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4809C>A",
"hgvs_p": "p.Tyr1603*",
"transcript": "NM_001410867.1",
"protein_id": "NP_001397796.1",
"transcript_support_level": null,
"aa_start": 1603,
"aa_end": null,
"aa_length": 1966,
"cds_start": 4809,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 5090,
"cdna_end": null,
"cdna_length": 9473,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4809C>A",
"hgvs_p": "p.Tyr1603*",
"transcript": "ENST00000579454.2",
"protein_id": "ENSP00000463926.2",
"transcript_support_level": 5,
"aa_start": 1603,
"aa_end": null,
"aa_length": 1966,
"cds_start": 4809,
"cds_end": null,
"cds_length": 5901,
"cdna_start": 5063,
"cdna_end": null,
"cdna_length": 6155,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4680C>A",
"hgvs_p": "p.Tyr1560*",
"transcript": "ENST00000580732.6",
"protein_id": "ENSP00000464162.1",
"transcript_support_level": 5,
"aa_start": 1560,
"aa_end": null,
"aa_length": 1923,
"cds_start": 4680,
"cds_end": null,
"cds_length": 5772,
"cdna_start": 5061,
"cdna_end": null,
"cdna_length": 8749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4353C>A",
"hgvs_p": "p.Tyr1451*",
"transcript": "NM_001410868.1",
"protein_id": "NP_001397797.1",
"transcript_support_level": null,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1814,
"cds_start": 4353,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 4634,
"cdna_end": null,
"cdna_length": 9017,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4353C>A",
"hgvs_p": "p.Tyr1451*",
"transcript": "ENST00000269218.10",
"protein_id": "ENSP00000269218.6",
"transcript_support_level": 5,
"aa_start": 1451,
"aa_end": null,
"aa_length": 1814,
"cds_start": 4353,
"cds_end": null,
"cds_length": 5445,
"cdna_start": 4508,
"cdna_end": null,
"cdna_length": 5600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4812C>A",
"hgvs_p": "p.Tyr1604*",
"transcript": "XM_017025989.2",
"protein_id": "XP_016881478.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4812,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 4983,
"cdna_end": null,
"cdna_length": 7472,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4812C>A",
"hgvs_p": "p.Tyr1604*",
"transcript": "XM_047437809.1",
"protein_id": "XP_047293765.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4812,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 5093,
"cdna_end": null,
"cdna_length": 7582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4812C>A",
"hgvs_p": "p.Tyr1604*",
"transcript": "XM_047437810.1",
"protein_id": "XP_047293766.1",
"transcript_support_level": null,
"aa_start": 1604,
"aa_end": null,
"aa_length": 1998,
"cds_start": 4812,
"cds_end": null,
"cds_length": 5997,
"cdna_start": 5171,
"cdna_end": null,
"cdna_length": 7660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4809C>A",
"hgvs_p": "p.Tyr1603*",
"transcript": "XM_017025990.2",
"protein_id": "XP_016881479.1",
"transcript_support_level": null,
"aa_start": 1603,
"aa_end": null,
"aa_length": 1997,
"cds_start": 4809,
"cds_end": null,
"cds_length": 5994,
"cdna_start": 5090,
"cdna_end": null,
"cdna_length": 7579,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4728C>A",
"hgvs_p": "p.Tyr1576*",
"transcript": "XM_017025991.2",
"protein_id": "XP_016881480.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 1970,
"cds_start": 4728,
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"cds_length": 5913,
"cdna_start": 5009,
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"cdna_length": 7498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4725C>A",
"hgvs_p": "p.Tyr1575*",
"transcript": "XM_047437811.1",
"protein_id": "XP_047293767.1",
"transcript_support_level": null,
"aa_start": 1575,
"aa_end": null,
"aa_length": 1969,
"cds_start": 4725,
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"cdna_start": 5006,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4812C>A",
"hgvs_p": "p.Tyr1604*",
"transcript": "XM_006722547.4",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4683C>A",
"hgvs_p": "p.Tyr1561*",
"transcript": "XM_017025993.2",
"protein_id": "XP_016881482.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1955,
"cds_start": 4683,
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"cdna_start": 4854,
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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": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4683C>A",
"hgvs_p": "p.Tyr1561*",
"transcript": "XM_047437813.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4683C>A",
"hgvs_p": "p.Tyr1561*",
"transcript": "XM_047437814.1",
"protein_id": "XP_047293770.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1955,
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"cdna_start": 5042,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4680C>A",
"hgvs_p": "p.Tyr1560*",
"transcript": "XM_047437815.1",
"protein_id": "XP_047293771.1",
"transcript_support_level": null,
"aa_start": 1560,
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"aa_length": 1954,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 28,
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"exon_count": 34,
"intron_rank": null,
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"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4725C>A",
"hgvs_p": "p.Tyr1575*",
"transcript": "XM_047437816.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4599C>A",
"hgvs_p": "p.Tyr1533*",
"transcript": "XM_047437817.1",
"protein_id": "XP_047293773.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4683C>A",
"hgvs_p": "p.Tyr1561*",
"transcript": "XM_047437818.1",
"protein_id": "XP_047293774.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
"aa_length": 1924,
"cds_start": 4683,
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"cdna_start": 4854,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GREB1L",
"gene_hgnc_id": 31042,
"hgvs_c": "c.4683C>A",
"hgvs_p": "p.Tyr1561*",
"transcript": "XM_047437819.1",
"protein_id": "XP_047293775.1",
"transcript_support_level": null,
"aa_start": 1561,
"aa_end": null,
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"cds_start": 4683,
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"cdna_start": 4964,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
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"clinvar_review_status": "no assertion criteria provided",
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"phenotype_combined": "Renal hypodysplasia/aplasia 3",
"pathogenicity_classification_combined": "Pathogenic",
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}
],
"message": null
}