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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: 19-58199741-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=58199741&ref=C&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": "ZNF274",
"hgnc_id": 13068,
"hgvs_c": "c.257-6979C>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_133502.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 28462,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_133502.3",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.257-6979C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000617501.5",
"protein_coding": true,
"protein_id": "NP_598009.1",
"strand": true,
"transcript": "NM_133502.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2808,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000617501.5",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.257-6979C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_133502.3",
"protein_coding": true,
"protein_id": "ENSP00000484810.1",
"strand": true,
"transcript": "ENST00000617501.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 621,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": null,
"cds_end": null,
"cds_length": 1866,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000345813.7",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.161-6979C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321187.5",
"strand": true,
"transcript": "ENST00000345813.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 611,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": null,
"cds_end": null,
"cds_length": 1836,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000326804.8",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.131-6979C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321209.5",
"strand": true,
"transcript": "ENST00000326804.8",
"transcript_support_level": 1
},
{
"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": 2539,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424679.6",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.-59-6979C>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409872.3",
"strand": true,
"transcript": "ENST00000424679.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2559,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000610905.4",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.257-6979C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478533.1",
"strand": true,
"transcript": "ENST00000610905.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000863438.1",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.257-6979C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533497.1",
"strand": true,
"transcript": "ENST00000863438.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 653,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2711,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930795.1",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.257-6979C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600854.1",
"strand": true,
"transcript": "ENST00000930795.1",
"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": 2761,
"cdna_start": null,
"cds_end": null,
"cds_length": 1962,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000930798.1",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.257-6979C>G",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600857.1",
"strand": true,
"transcript": "ENST00000930798.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
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"exon_rank": null,
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"feature": "ENST00000952034.1",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.257-6979C>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622093.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000930797.1",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
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},
{
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"consequences": [
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],
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"feature": "ENST00000952035.1",
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},
{
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],
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"feature": "NM_016325.4",
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"protein_coding": true,
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},
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000930796.1",
"gene_hgnc_id": 13068,
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"hgvs_c": "c.161-6979C>G",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
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},
{
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],
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"feature": "ENST00000952036.1",
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"protein_coding": true,
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},
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],
"exon_count": 8,
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"feature": "NM_001278734.2",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.131-6979C>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001265663.1",
"strand": true,
"transcript": "NM_001278734.2",
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},
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000930801.1",
"gene_hgnc_id": 13068,
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"hgvs_c": "c.257-6979C>G",
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},
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],
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"feature": "NM_016324.4",
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},
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],
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"feature": "ENST00000930800.1",
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},
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"consequences": [
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],
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"feature": "ENST00000930799.1",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000600858.1",
"strand": true,
"transcript": "ENST00000930799.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000594839.5",
"gene_hgnc_id": 13068,
"gene_symbol": "ZNF274",
"hgvs_c": "c.-59-6979C>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000469427.2",
"strand": true,
"transcript": "ENST00000594839.5",
"transcript_support_level": 4
},
{
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