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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: 5-153993005-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=153993005&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 153993005,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018691.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "NM_018691.4",
"protein_id": "NP_061161.2",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": "ENST00000351797.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018691.4"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000351797.9",
"protein_id": "ENSP00000341597.4",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1557,
"cdna_end": null,
"cdna_length": 4414,
"mane_select": "NM_018691.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351797.9"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000520667.5",
"protein_id": "ENSP00000430384.1",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1615,
"cdna_end": null,
"cdna_length": 2121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520667.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000522858.5",
"protein_id": "ENSP00000430489.1",
"transcript_support_level": 1,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2077,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522858.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "NM_001317993.2",
"protein_id": "NP_001304922.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1604,
"cdna_end": null,
"cdna_length": 4461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317993.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "NM_001317994.2",
"protein_id": "NP_001304923.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 4978,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001317994.2"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000907992.1",
"protein_id": "ENSP00000578051.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1650,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907992.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000907994.1",
"protein_id": "ENSP00000578053.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1804,
"cdna_end": null,
"cdna_length": 3116,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907994.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000907995.1",
"protein_id": "ENSP00000578054.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1668,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907995.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000907996.1",
"protein_id": "ENSP00000578055.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907996.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000907997.1",
"protein_id": "ENSP00000578056.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 4123,
"cdna_end": null,
"cdna_length": 5363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907997.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000937548.1",
"protein_id": "ENSP00000607607.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2251,
"cdna_end": null,
"cdna_length": 2757,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937548.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000937549.1",
"protein_id": "ENSP00000607608.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 2714,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937549.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000946804.1",
"protein_id": "ENSP00000616863.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1705,
"cdna_end": null,
"cdna_length": 3017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946804.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000946807.1",
"protein_id": "ENSP00000616866.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946807.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000946809.1",
"protein_id": "ENSP00000616868.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1844,
"cdna_end": null,
"cdna_length": 2406,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946809.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000946810.1",
"protein_id": "ENSP00000616869.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 2186,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946810.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000946811.1",
"protein_id": "ENSP00000616870.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 1748,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946811.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1489C>G",
"hgvs_p": "p.Gln497Glu",
"transcript": "ENST00000946812.1",
"protein_id": "ENSP00000616871.1",
"transcript_support_level": null,
"aa_start": 497,
"aa_end": null,
"aa_length": 505,
"cds_start": 1489,
"cds_end": null,
"cds_length": 1518,
"cdna_start": 2035,
"cdna_end": null,
"cdna_length": 2531,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946812.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1483C>G",
"hgvs_p": "p.Gln495Glu",
"transcript": "ENST00000946806.1",
"protein_id": "ENSP00000616865.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1554,
"cdna_end": null,
"cdna_length": 2848,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946806.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1483C>G",
"hgvs_p": "p.Gln495Glu",
"transcript": "ENST00000946808.1",
"protein_id": "ENSP00000616867.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 503,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1512,
"cdna_start": 1530,
"cdna_end": null,
"cdna_length": 2768,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946808.1"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM114A2",
"gene_hgnc_id": 1333,
"hgvs_c": "c.1480C>G",
"hgvs_p": "p.Gln494Glu",
"transcript": "ENST00000907993.1",
"protein_id": "ENSP00000578052.1",
"transcript_support_level": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}