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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: 18-5293944-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=5293944&ref=C&alt=T&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": "ZBTB14",
"hgnc_id": 12860,
"hgvs_c": "c.-81-617G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_003409.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 62407,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "18",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001243702.2",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000651870.1",
"protein_coding": true,
"protein_id": "NP_001230631.1",
"strand": false,
"transcript": "NM_001243702.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3372,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000651870.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001243702.2",
"protein_coding": true,
"protein_id": "ENSP00000499212.1",
"strand": false,
"transcript": "ENST00000651870.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000357006.8",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349503.4",
"strand": false,
"transcript": "ENST00000357006.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1814,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000400143.7",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-81-617G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383009.3",
"strand": false,
"transcript": "ENST00000400143.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2271,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000935472.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-113G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605531.1",
"strand": false,
"transcript": "ENST00000935472.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001143823.3",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001137295.1",
"strand": false,
"transcript": "NM_001143823.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3339,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001243704.2",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001230633.1",
"strand": false,
"transcript": "NM_001243704.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003409.5",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-81-617G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003400.2",
"strand": false,
"transcript": "NM_003409.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3341,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000614697.4",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484129.1",
"strand": false,
"transcript": "ENST00000614697.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3350,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615385.4",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478971.1",
"strand": false,
"transcript": "ENST00000615385.4",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3573,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905718.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-81-617G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575777.1",
"strand": false,
"transcript": "ENST00000905718.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3441,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905719.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575778.1",
"strand": false,
"transcript": "ENST00000905719.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000905720.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
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"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575779.1",
"strand": false,
"transcript": "ENST00000905720.1",
"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": 3722,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905721.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-81-617G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575780.1",
"strand": false,
"transcript": "ENST00000905721.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4321,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000905722.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+237G>A",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575781.1",
"strand": false,
"transcript": "ENST00000905722.1",
"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": 4360,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905724.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575782.1",
"strand": false,
"transcript": "ENST00000905724.1",
"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": 3951,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905725.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575784.1",
"strand": false,
"transcript": "ENST00000905725.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000905726.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-81-617G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575785.1",
"strand": false,
"transcript": "ENST00000905726.1",
"transcript_support_level": null
},
{
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"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
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"feature": "ENST00000905728.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000575787.1",
"strand": false,
"transcript": "ENST00000905728.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000968937.1",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638996.1",
"strand": false,
"transcript": "ENST00000968937.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 825,
"cdna_start": null,
"cds_end": null,
"cds_length": 663,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582388.5",
"gene_hgnc_id": 12860,
"gene_symbol": "ZBTB14",
"hgvs_c": "c.-82+28G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463555.1",
"strand": false,
"transcript": "ENST00000582388.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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