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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: 20-18166059-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18166059&ref=A&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": "KAT14",
"hgnc_id": 15904,
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_020536.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 34553,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 781,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": null,
"cds_end": null,
"cds_length": 2346,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001392073.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1668+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000688188.1",
"protein_coding": true,
"protein_id": "NP_001379002.1",
"strand": true,
"transcript": "NM_001392073.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 781,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": null,
"cds_end": null,
"cds_length": 2346,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688188.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1668+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001392073.1",
"protein_coding": true,
"protein_id": "ENSP00000508684.1",
"strand": true,
"transcript": "ENST00000688188.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3924,
"cdna_start": null,
"cds_end": null,
"cds_length": 2349,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000435364.8",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392318.2",
"strand": true,
"transcript": "ENST00000435364.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 654,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": null,
"cds_end": null,
"cds_length": 1965,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000489634.2",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1287+3114A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425909.2",
"strand": true,
"transcript": "ENST00000489634.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3567,
"cdna_start": null,
"cds_end": null,
"cds_length": 2349,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384192.3",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001371121.2",
"strand": true,
"transcript": "NM_001384192.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3707,
"cdna_start": null,
"cds_end": null,
"cds_length": 2349,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001392069.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378998.1",
"strand": true,
"transcript": "NM_001392069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3862,
"cdna_start": null,
"cds_end": null,
"cds_length": 2349,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001392070.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378999.1",
"strand": true,
"transcript": "NM_001392070.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 782,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3436,
"cdna_start": null,
"cds_end": null,
"cds_length": 2349,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001392071.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001379000.1",
"strand": true,
"transcript": "NM_001392071.1",
"transcript_support_level": null
},
{
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"aa_length": 782,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3485,
"cdna_start": null,
"cds_end": null,
"cds_length": 2349,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001392072.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001379001.1",
"strand": true,
"transcript": "NM_001392072.1",
"transcript_support_level": null
},
{
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"aa_length": 782,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3752,
"cdna_start": null,
"cds_end": null,
"cds_length": 2349,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_020536.7",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065397.4",
"strand": true,
"transcript": "NM_020536.7",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000377681.8",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000366909.3",
"strand": true,
"transcript": "ENST00000377681.8",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000464792.2",
"gene_hgnc_id": 15904,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000424752.2",
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},
{
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"feature": "ENST00000676935.1",
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"protein_coding": true,
"protein_id": "ENSP00000503493.1",
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"transcript": "ENST00000676935.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000677174.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000503109.1",
"strand": true,
"transcript": "ENST00000677174.1",
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},
{
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],
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"feature": "ENST00000677266.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504050.1",
"strand": true,
"transcript": "ENST00000677266.1",
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},
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000678772.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1671+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504276.1",
"strand": true,
"transcript": "ENST00000678772.1",
"transcript_support_level": null
},
{
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001392074.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1668+3114A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001379003.1",
"strand": true,
"transcript": "NM_001392074.1",
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},
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],
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"feature": "NM_001392075.1",
"gene_hgnc_id": 15904,
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"strand": true,
"transcript": "NM_001392075.1",
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},
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],
"exon_count": 11,
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"feature": "NM_001392076.1",
"gene_hgnc_id": 15904,
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"protein_coding": true,
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"strand": true,
"transcript": "NM_001392076.1",
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},
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"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001392077.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1668+3114A>G",
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"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001379006.1",
"strand": true,
"transcript": "NM_001392077.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
"cds_length": 2346,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001392078.1",
"gene_hgnc_id": 15904,
"gene_symbol": "KAT14",
"hgvs_c": "c.1668+3114A>G",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001379007.1",
"strand": true,
"transcript": "NM_001392078.1",
"transcript_support_level": null
},
{
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