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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: 8-143816981-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143816981&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 143816981,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000526683.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Gln437*",
"transcript": "NM_078480.3",
"protein_id": "NP_510965.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 559,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "ENST00000526683.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Gln437*",
"transcript": "ENST00000526683.6",
"protein_id": "ENSP00000434359.1",
"transcript_support_level": 1,
"aa_start": 437,
"aa_end": null,
"aa_length": 559,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 1321,
"cdna_end": null,
"cdna_length": 1868,
"mane_select": "NM_078480.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Gln420*",
"transcript": "ENST00000349157.10",
"protein_id": "ENSP00000322036.7",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 542,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Gln394*",
"transcript": "ENST00000453551.6",
"protein_id": "ENSP00000402953.2",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 516,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1328,
"cdna_end": null,
"cdna_length": 1842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1129C>T",
"hgvs_p": "p.Gln377*",
"transcript": "ENST00000313352.11",
"protein_id": "ENSP00000322016.7",
"transcript_support_level": 1,
"aa_start": 377,
"aa_end": null,
"aa_length": 499,
"cds_start": 1129,
"cds_end": null,
"cds_length": 1500,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1804,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Gln474*",
"transcript": "NM_001362895.2",
"protein_id": "NP_001349824.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 596,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Gln474*",
"transcript": "NM_001362896.2",
"protein_id": "NP_001349825.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 596,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2205,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Gln474*",
"transcript": "ENST00000533162.2",
"protein_id": "ENSP00000433403.2",
"transcript_support_level": 3,
"aa_start": 474,
"aa_end": null,
"aa_length": 596,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 1936,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1420C>T",
"hgvs_p": "p.Gln474*",
"transcript": "ENST00000703847.1",
"protein_id": "ENSP00000515499.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 596,
"cds_start": 1420,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1658,
"cdna_end": null,
"cdna_length": 2140,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*",
"transcript": "ENST00000533362.2",
"protein_id": "ENSP00000515502.1",
"transcript_support_level": 5,
"aa_start": 462,
"aa_end": null,
"aa_length": 584,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1628,
"cdna_end": null,
"cdna_length": 2053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1384C>T",
"hgvs_p": "p.Gln462*",
"transcript": "ENST00000703850.1",
"protein_id": "ENSP00000515503.1",
"transcript_support_level": null,
"aa_start": 462,
"aa_end": null,
"aa_length": 584,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1755,
"cdna_start": 1535,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1369C>T",
"hgvs_p": "p.Gln457*",
"transcript": "NM_001362897.2",
"protein_id": "NP_001349826.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 579,
"cds_start": 1369,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1444,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1309C>T",
"hgvs_p": "p.Gln437*",
"transcript": "ENST00000703866.1",
"protein_id": "ENSP00000515511.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 559,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1680,
"cdna_start": 2156,
"cdna_end": null,
"cdna_length": 2527,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Gln436*",
"transcript": "NM_001271098.2",
"protein_id": "NP_001258027.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 558,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1318,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1306C>T",
"hgvs_p": "p.Gln436*",
"transcript": "ENST00000527744.6",
"protein_id": "ENSP00000436131.2",
"transcript_support_level": 2,
"aa_start": 436,
"aa_end": null,
"aa_length": 558,
"cds_start": 1306,
"cds_end": null,
"cds_length": 1677,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1258C>T",
"hgvs_p": "p.Gln420*",
"transcript": "NM_014281.5",
"protein_id": "NP_055096.2",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 542,
"cds_start": 1258,
"cds_end": null,
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"cdna_start": 1270,
"cdna_end": null,
"cdna_length": 1817,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "NM_001271096.2",
"protein_id": "NP_001258025.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 541,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1267,
"cdna_end": null,
"cdna_length": 1814,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1255C>T",
"hgvs_p": "p.Gln419*",
"transcript": "ENST00000526459.6",
"protein_id": "ENSP00000432610.2",
"transcript_support_level": 2,
"aa_start": 419,
"aa_end": null,
"aa_length": 541,
"cds_start": 1255,
"cds_end": null,
"cds_length": 1626,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 1661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1222C>T",
"hgvs_p": "p.Gln408*",
"transcript": "NM_001271099.2",
"protein_id": "NP_001258028.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 530,
"cds_start": 1222,
"cds_end": null,
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"cdna_start": 1234,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1222C>T",
"hgvs_p": "p.Gln408*",
"transcript": "ENST00000456095.6",
"protein_id": "ENSP00000395417.2",
"transcript_support_level": 5,
"aa_start": 408,
"aa_end": null,
"aa_length": 530,
"cds_start": 1222,
"cds_end": null,
"cds_length": 1593,
"cdna_start": 1222,
"cdna_end": null,
"cdna_length": 1736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Gln394*",
"transcript": "NM_001136033.3",
"protein_id": "NP_001129505.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 516,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1343,
"cdna_end": null,
"cdna_length": 1890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1180C>T",
"hgvs_p": "p.Gln394*",
"transcript": "ENST00000531951.6",
"protein_id": "ENSP00000515500.1",
"transcript_support_level": 3,
"aa_start": 394,
"aa_end": null,
"aa_length": 516,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 1947,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PUF60",
"gene_hgnc_id": 17042,
"hgvs_c": "c.1180C>T",
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"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "8q24.3 microdeletion syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}