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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: 2-218662989-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=218662989&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 218662989,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000359273.8",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001079866.2",
"protein_id": "NP_001073335.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": "ENST00000359273.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "ENST00000359273.8",
"protein_id": "ENSP00000352219.3",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1106,
"cdna_end": null,
"cdna_length": 1427,
"mane_select": "NM_001079866.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "ENST00000392109.5",
"protein_id": "ENSP00000375957.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1262,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "ENST00000392111.7",
"protein_id": "ENSP00000375959.2",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "ENST00000412366.5",
"protein_id": "ENSP00000406494.1",
"transcript_support_level": 1,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1109,
"cdna_end": null,
"cdna_length": 1430,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001257342.2",
"protein_id": "NP_001244271.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 1557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001257343.2",
"protein_id": "NP_001244272.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001257344.2",
"protein_id": "NP_001244273.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1163,
"cdna_end": null,
"cdna_length": 1484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001320717.2",
"protein_id": "NP_001307646.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1278,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001371443.1",
"protein_id": "NP_001358372.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001371444.1",
"protein_id": "NP_001358373.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1491,
"cdna_end": null,
"cdna_length": 1812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001371446.1",
"protein_id": "NP_001358375.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 2432,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001371447.1",
"protein_id": "NP_001358376.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
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"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 1409,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001371448.1",
"protein_id": "NP_001358377.1",
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"aa_start": 332,
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"cds_start": 996,
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"cdna_start": 1289,
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"cdna_length": 1610,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001371449.1",
"protein_id": "NP_001358378.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
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"cdna_start": 1403,
"cdna_end": null,
"cdna_length": 1724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001371450.1",
"protein_id": "NP_001358379.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
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"cds_start": 996,
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"cdna_start": 1784,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_001374085.1",
"protein_id": "NP_001361014.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
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"cdna_start": 2301,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "NM_004328.5",
"protein_id": "NP_004319.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
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"cds_length": 1260,
"cdna_start": 1315,
"cdna_end": null,
"cdna_length": 1636,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "ENST00000392110.6",
"protein_id": "ENSP00000375958.2",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
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"cds_start": 996,
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"cdna_start": 1205,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "ENST00000431802.5",
"protein_id": "ENSP00000413908.1",
"transcript_support_level": 2,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
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"cdna_start": 1695,
"cdna_end": null,
"cdna_length": 2015,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.996C>G",
"hgvs_p": "p.Asn332Lys",
"transcript": "ENST00000439945.5",
"protein_id": "ENSP00000404999.1",
"transcript_support_level": 5,
"aa_start": 332,
"aa_end": null,
"aa_length": 419,
"cds_start": 996,
"cds_end": null,
"cds_length": 1260,
"cdna_start": 1201,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
"gene_hgnc_id": 1020,
"hgvs_c": "c.636C>G",
"hgvs_p": "p.Asn212Lys",
"transcript": "NM_001318836.2",
"protein_id": "NP_001305765.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 299,
"cds_start": 636,
"cds_end": null,
"cds_length": 900,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BCS1L",
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}