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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: 12-111807833-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=111807833&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ALDH2",
"hgnc_id": 404,
"hgvs_c": "c.1522-1710T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_000690.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 15242,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.76,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.7599999904632568,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 517,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9561,
"cdna_start": null,
"cds_end": null,
"cds_length": 1554,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000690.4",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1522-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261733.7",
"protein_coding": true,
"protein_id": "NP_000681.2",
"strand": true,
"transcript": "NM_000690.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 517,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9561,
"cdna_start": null,
"cds_end": null,
"cds_length": 1554,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261733.7",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1522-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000690.4",
"protein_coding": true,
"protein_id": "ENSP00000261733.2",
"strand": true,
"transcript": "ENST00000261733.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 554,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": null,
"cds_end": null,
"cds_length": 1665,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871406.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1633-1710T>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541465.1",
"strand": true,
"transcript": "ENST00000871406.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 553,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2101,
"cdna_start": null,
"cds_end": null,
"cds_length": 1662,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871417.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1630-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541476.1",
"strand": true,
"transcript": "ENST00000871417.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 553,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": null,
"cds_end": null,
"cds_length": 1662,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951571.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1630-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621630.1",
"strand": true,
"transcript": "ENST00000951571.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871421.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1615-1710T>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541480.1",
"strand": true,
"transcript": "ENST00000871421.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 544,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2061,
"cdna_start": null,
"cds_end": null,
"cds_length": 1635,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951576.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1603-1710T>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621635.1",
"strand": true,
"transcript": "ENST00000951576.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 543,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": null,
"cds_end": null,
"cds_length": 1632,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951573.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1600-1710T>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621632.1",
"strand": true,
"transcript": "ENST00000951573.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 522,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": null,
"cds_end": null,
"cds_length": 1569,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000931978.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1537-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602037.1",
"strand": true,
"transcript": "ENST00000931978.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 519,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1994,
"cdna_start": null,
"cds_end": null,
"cds_length": 1560,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000951572.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1528-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621631.1",
"strand": true,
"transcript": "ENST00000951572.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2009,
"cdna_start": null,
"cds_end": null,
"cds_length": 1542,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871409.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1510-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541468.1",
"strand": true,
"transcript": "ENST00000871409.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": null,
"cds_end": null,
"cds_length": 1536,
"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000871414.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1504-1710T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541473.1",
"strand": true,
"transcript": "ENST00000871414.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000931977.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
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"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000602036.1",
"strand": true,
"transcript": "ENST00000931977.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
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"feature": "ENST00000951568.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1501-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621627.1",
"strand": true,
"transcript": "ENST00000951568.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000951570.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1501-1710T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621629.1",
"strand": true,
"transcript": "ENST00000951570.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871431.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1492-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541490.1",
"strand": true,
"transcript": "ENST00000871431.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1509,
"cds_start": null,
"consequences": [
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],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871424.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1477-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541483.1",
"strand": true,
"transcript": "ENST00000871424.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000951569.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1477-1710T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000621628.1",
"strand": true,
"transcript": "ENST00000951569.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000871410.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1468-1710T>G",
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"protein_coding": true,
"protein_id": "ENSP00000541469.1",
"strand": true,
"transcript": "ENST00000871410.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871420.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1444-1710T>G",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541479.1",
"strand": true,
"transcript": "ENST00000871420.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1928,
"cdna_start": null,
"cds_end": null,
"cds_length": 1449,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871407.1",
"gene_hgnc_id": 404,
"gene_symbol": "ALDH2",
"hgvs_c": "c.1417-1710T>G",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541466.1",
"strand": true,
"transcript": "ENST00000871407.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
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