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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: 8-143816630-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=143816630&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PUF60",
"hgnc_id": 17042,
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Glu561Gln",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001362895.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.4604,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,PUF60-related disorder",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7220760583877563,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 559,
"aa_ref": "E",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_078480.3",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1570G>C",
"hgvs_p": "p.Glu524Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000526683.6",
"protein_coding": true,
"protein_id": "NP_510965.1",
"strand": false,
"transcript": "NM_078480.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 559,
"aa_ref": "E",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000526683.6",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1570G>C",
"hgvs_p": "p.Glu524Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_078480.3",
"protein_coding": true,
"protein_id": "ENSP00000434359.1",
"strand": false,
"transcript": "ENST00000526683.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 542,
"aa_ref": "E",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000349157.10",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1519G>C",
"hgvs_p": "p.Glu507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322036.7",
"strand": false,
"transcript": "ENST00000349157.10",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 516,
"aa_ref": "E",
"aa_start": 481,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1842,
"cdna_start": 1589,
"cds_end": null,
"cds_length": 1551,
"cds_start": 1441,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000453551.6",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1441G>C",
"hgvs_p": "p.Glu481Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402953.2",
"strand": false,
"transcript": "ENST00000453551.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 499,
"aa_ref": "E",
"aa_start": 464,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 1551,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1390,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000313352.11",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1390G>C",
"hgvs_p": "p.Glu464Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000322016.7",
"strand": false,
"transcript": "ENST00000313352.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 596,
"aa_ref": "E",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2042,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001362895.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Glu561Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349824.1",
"strand": false,
"transcript": "NM_001362895.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 596,
"aa_ref": "E",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001362896.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Glu561Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349825.1",
"strand": false,
"transcript": "NM_001362896.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 596,
"aa_ref": "E",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1757,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000533162.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Glu561Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433403.2",
"strand": false,
"transcript": "ENST00000533162.2",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 596,
"aa_ref": "E",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 1919,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1681,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000703847.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1681G>C",
"hgvs_p": "p.Glu561Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515499.1",
"strand": false,
"transcript": "ENST00000703847.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 584,
"aa_ref": "E",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2053,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1645,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000533362.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1645G>C",
"hgvs_p": "p.Glu549Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515502.1",
"strand": false,
"transcript": "ENST00000533362.2",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 584,
"aa_ref": "E",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1952,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1645,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000703850.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1645G>C",
"hgvs_p": "p.Glu549Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515503.1",
"strand": false,
"transcript": "ENST00000703850.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 579,
"aa_ref": "E",
"aa_start": 544,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 1705,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1630,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001362897.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1630G>C",
"hgvs_p": "p.Glu544Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349826.1",
"strand": false,
"transcript": "NM_001362897.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 559,
"aa_ref": "E",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2527,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 1680,
"cds_start": 1570,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000703866.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1570G>C",
"hgvs_p": "p.Glu524Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515511.1",
"strand": false,
"transcript": "ENST00000703866.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 558,
"aa_ref": "E",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": 1579,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001271098.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1567G>C",
"hgvs_p": "p.Glu523Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258027.1",
"strand": false,
"transcript": "NM_001271098.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 558,
"aa_ref": "E",
"aa_start": 523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 1633,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1567,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000527744.6",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1567G>C",
"hgvs_p": "p.Glu523Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436131.2",
"strand": false,
"transcript": "ENST00000527744.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 557,
"aa_ref": "E",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 1604,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1564,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000963445.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1564G>C",
"hgvs_p": "p.Glu522Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633504.1",
"strand": false,
"transcript": "ENST00000963445.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 550,
"aa_ref": "E",
"aa_start": 515,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1543,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000897215.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1543G>C",
"hgvs_p": "p.Glu515Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567274.1",
"strand": false,
"transcript": "ENST00000897215.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 542,
"aa_ref": "E",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_014281.5",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1519G>C",
"hgvs_p": "p.Glu507Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055096.2",
"strand": false,
"transcript": "NM_014281.5",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 541,
"aa_ref": "E",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": 1528,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001271096.2",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1516G>C",
"hgvs_p": "p.Glu506Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258025.1",
"strand": false,
"transcript": "NM_001271096.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 541,
"aa_ref": "E",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1661,
"cdna_start": 1551,
"cds_end": null,
"cds_length": 1626,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000526459.6",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
"hgvs_c": "c.1516G>C",
"hgvs_p": "p.Glu506Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432610.2",
"strand": false,
"transcript": "ENST00000526459.6",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 540,
"aa_ref": "E",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 1623,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934071.1",
"gene_hgnc_id": 17042,
"gene_symbol": "PUF60",
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