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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: 11-12003029-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=12003029&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DKK3",
"hgnc_id": 2893,
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001330220.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "11",
"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": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001018057.2",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000683431.1",
"protein_coding": true,
"protein_id": "NP_001018067.1",
"strand": false,
"transcript": "NM_001018057.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683431.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001018057.2",
"protein_coding": true,
"protein_id": "ENSP00000506835.1",
"strand": false,
"transcript": "ENST00000683431.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000326932.8",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314910.4",
"strand": false,
"transcript": "ENST00000326932.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 350,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9549,
"cdna_start": null,
"cds_end": null,
"cds_length": 1053,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396505.7",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379762.2",
"strand": false,
"transcript": "ENST00000396505.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2696,
"cdna_start": null,
"cds_end": null,
"cds_length": 1302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903527.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573586.1",
"strand": false,
"transcript": "ENST00000903527.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 433,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2853,
"cdna_start": null,
"cds_end": null,
"cds_length": 1302,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958801.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628860.1",
"strand": false,
"transcript": "ENST00000958801.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 407,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2589,
"cdna_start": null,
"cds_end": null,
"cds_length": 1224,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958821.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628880.1",
"strand": false,
"transcript": "ENST00000958821.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000903519.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000573578.1",
"strand": false,
"transcript": "ENST00000903519.1",
"transcript_support_level": null
},
{
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"aa_length": 406,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": null,
"cds_end": null,
"cds_length": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958809.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628868.1",
"strand": false,
"transcript": "ENST00000958809.1",
"transcript_support_level": null
},
{
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"aa_length": 406,
"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": 1221,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958813.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628872.1",
"strand": false,
"transcript": "ENST00000958813.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000958819.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628878.1",
"strand": false,
"transcript": "ENST00000958819.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
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"feature": "ENST00000958798.1",
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"gene_symbol": "DKK3",
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"protein_coding": true,
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"transcript": "ENST00000958798.1",
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},
{
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],
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},
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"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000958815.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628874.1",
"strand": false,
"transcript": "ENST00000958815.1",
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},
{
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000958818.1",
"gene_hgnc_id": 2893,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628877.1",
"strand": false,
"transcript": "ENST00000958818.1",
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},
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"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000958802.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000628861.1",
"strand": false,
"transcript": "ENST00000958802.1",
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},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000958817.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
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},
{
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"consequences": [
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],
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"feature": "ENST00000958804.1",
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},
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],
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"feature": "NM_001330220.3",
"gene_hgnc_id": 2893,
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"protein_coding": true,
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"strand": false,
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},
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"consequences": [
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],
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"feature": "ENST00000525493.5",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000433112.1",
"strand": false,
"transcript": "ENST00000525493.5",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
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"feature": "ENST00000903516.1",
"gene_hgnc_id": 2893,
"gene_symbol": "DKK3",
"hgvs_c": "c.214-592C>T",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000573575.1",
"strand": false,
"transcript": "ENST00000903516.1",
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},
{
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