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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: X-2934907-GA-AC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2934907&ref=GA&alt=AC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "ARSL",
"hgnc_id": 719,
"hgvs_c": "c.1769_1770delTCinsGT",
"hgvs_p": "p.Ile590Ser",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001282628.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000047.3",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1694_1695delTCinsGT",
"hgvs_p": "p.Ile565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000381134.9",
"protein_coding": true,
"protein_id": "NP_000038.2",
"strand": false,
"transcript": "NM_000047.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 1833,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381134.9",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1694_1695delTCinsGT",
"hgvs_p": "p.Ile565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000047.3",
"protein_coding": true,
"protein_id": "ENSP00000370526.3",
"strand": false,
"transcript": "ENST00000381134.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "I",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2505,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282628.2",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1769_1770delTCinsGT",
"hgvs_p": "p.Ile590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269557.1",
"strand": false,
"transcript": "NM_001282628.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "I",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369080.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1769_1770delTCinsGT",
"hgvs_p": "p.Ile590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356009.1",
"strand": false,
"transcript": "NM_001369080.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "I",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000545496.6",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1769_1770delTCinsGT",
"hgvs_p": "p.Ile590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441417.1",
"strand": false,
"transcript": "ENST00000545496.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "I",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2173,
"cdna_start": 2098,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672027.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1769_1770delTCinsGT",
"hgvs_p": "p.Ile590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500220.1",
"strand": false,
"transcript": "ENST00000672027.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "I",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 2028,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000681963.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1769_1770delTCinsGT",
"hgvs_p": "p.Ile590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507760.1",
"strand": false,
"transcript": "ENST00000681963.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 614,
"aa_ref": "I",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2976,
"cdna_start": 2114,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1769,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683290.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1769_1770delTCinsGT",
"hgvs_p": "p.Ile590Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508156.1",
"strand": false,
"transcript": "ENST00000683290.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 598,
"aa_ref": "I",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1909,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1721,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001369079.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1721_1722delTCinsGT",
"hgvs_p": "p.Ile574Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356008.1",
"strand": false,
"transcript": "NM_001369079.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001440751.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1694_1695delTCinsGT",
"hgvs_p": "p.Ile565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427680.1",
"strand": false,
"transcript": "NM_001440751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2255,
"cdna_start": 1868,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540563.6",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1694_1695delTCinsGT",
"hgvs_p": "p.Ile565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438198.2",
"strand": false,
"transcript": "ENST00000540563.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": 1897,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879212.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1694_1695delTCinsGT",
"hgvs_p": "p.Ile565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549271.1",
"strand": false,
"transcript": "ENST00000879212.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 1864,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879214.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1694_1695delTCinsGT",
"hgvs_p": "p.Ile565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549273.1",
"strand": false,
"transcript": "ENST00000879214.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "I",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1943,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879215.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1694_1695delTCinsGT",
"hgvs_p": "p.Ile565Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549274.1",
"strand": false,
"transcript": "ENST00000879215.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 588,
"aa_ref": "I",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 2039,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1691,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000672097.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1691_1692delTCinsGT",
"hgvs_p": "p.Ile564Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500727.1",
"strand": false,
"transcript": "ENST00000672097.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 585,
"aa_ref": "I",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2630,
"cdna_start": 1768,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683677.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1682_1683delTCinsGT",
"hgvs_p": "p.Ile561Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506786.1",
"strand": false,
"transcript": "ENST00000683677.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 585,
"aa_ref": "I",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1816,
"cds_end": null,
"cds_length": 1758,
"cds_start": 1682,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684364.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1682_1683delTCinsGT",
"hgvs_p": "p.Ile561Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507304.1",
"strand": false,
"transcript": "ENST00000684364.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 548,
"aa_ref": "I",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1649,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682184.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1571_1572delTCinsGT",
"hgvs_p": "p.Ile524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507043.1",
"strand": false,
"transcript": "ENST00000682184.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 548,
"aa_ref": "I",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1766,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1647,
"cds_start": 1571,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879218.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1571_1572delTCinsGT",
"hgvs_p": "p.Ile524Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549277.1",
"strand": false,
"transcript": "ENST00000879218.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 544,
"aa_ref": "I",
"aa_start": 520,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1716,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1559,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879217.1",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1559_1560delTCinsGT",
"hgvs_p": "p.Ile520Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549276.1",
"strand": false,
"transcript": "ENST00000879217.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "I",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 1650,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1532,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001282631.2",
"gene_hgnc_id": 719,
"gene_symbol": "ARSL",
"hgvs_c": "c.1532_1533delTCinsGT",
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