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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: 10-101002656-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=101002656&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 101002656,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_032429.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "NM_001318100.2",
"protein_id": "NP_001305029.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000454422.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318100.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000454422.2",
"protein_id": "ENSP00000416972.2",
"transcript_support_level": 2,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001318100.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454422.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000370220.1",
"protein_id": "ENSP00000359240.1",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370220.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000370223.7",
"protein_id": "ENSP00000359243.3",
"transcript_support_level": 1,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370223.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000853699.1",
"protein_id": "ENSP00000523757.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 678,
"cds_start": 118,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853699.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000962998.1",
"protein_id": "ENSP00000633057.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 678,
"cds_start": 118,
"cds_end": null,
"cds_length": 2037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962998.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "NM_001318099.2",
"protein_id": "NP_001305028.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318099.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "NM_001394950.1",
"protein_id": "NP_001381879.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394950.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "NM_001394951.1",
"protein_id": "NP_001381880.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394951.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "NM_001394952.1",
"protein_id": "NP_001381881.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394952.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "NM_032429.4",
"protein_id": "NP_115805.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032429.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000853681.1",
"protein_id": "ENSP00000523740.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853681.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000853682.1",
"protein_id": "ENSP00000523741.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853682.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000853703.1",
"protein_id": "ENSP00000523762.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853703.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000853705.1",
"protein_id": "ENSP00000523764.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853705.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000853707.1",
"protein_id": "ENSP00000523766.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853707.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000912443.1",
"protein_id": "ENSP00000582502.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912443.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000912444.1",
"protein_id": "ENSP00000582503.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912444.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000912445.1",
"protein_id": "ENSP00000582504.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912445.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000912446.1",
"protein_id": "ENSP00000582505.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912446.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000912447.1",
"protein_id": "ENSP00000582506.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912447.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LZTS2",
"gene_hgnc_id": 29381,
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg",
"transcript": "ENST00000912448.1",
"protein_id": "ENSP00000582507.1",
"transcript_support_level": null,
"aa_start": 40,
"aa_end": null,
"aa_length": 669,
"cds_start": 118,
"cds_end": null,
"cds_length": 2010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912448.1"
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
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"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "LZTS2",
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"transcript": "ENST00000489526.1",
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"cds_start": null,
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"cds_length": null,
"cdna_start": null,
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"biotype": "retained_intron",
"feature": "ENST00000489526.1"
}
],
"gene_symbol": "LZTS2",
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"dbsnp": "rs148075274",
"frequency_reference_population": 0.000002063481,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000206348,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18781757354736328,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.1515,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.361,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032429.4",
"gene_symbol": "LZTS2",
"hgnc_id": 29381,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.118G>C",
"hgvs_p": "p.Gly40Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}