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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: 15-40459042-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40459042&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"PM2",
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BAHD1",
"hgnc_id": 29153,
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -6,
"transcript": "NM_014952.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000302612",
"hgnc_id": null,
"hgvs_c": "n.554-512G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000788112.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BS2",
"acmg_score": -6,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0985,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04742458462715149,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 780,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 908,
"cds_end": null,
"cds_length": 2343,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_014952.5",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000416165.6",
"protein_coding": true,
"protein_id": "NP_055767.3",
"strand": true,
"transcript": "NM_014952.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 780,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4779,
"cdna_start": 908,
"cds_end": null,
"cds_length": 2343,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000416165.6",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014952.5",
"protein_coding": true,
"protein_id": "ENSP00000396976.1",
"strand": true,
"transcript": "ENST00000416165.6",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4698,
"cdna_start": 837,
"cds_end": null,
"cds_length": 2340,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000561234.5",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454150.1",
"strand": true,
"transcript": "ENST00000561234.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 777,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4432,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2334,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000560846.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454101.1",
"strand": true,
"transcript": "ENST00000560846.1",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 780,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4677,
"cdna_start": 815,
"cds_end": null,
"cds_length": 2343,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852445.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522504.1",
"strand": true,
"transcript": "ENST00000852445.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 780,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4640,
"cdna_start": 772,
"cds_end": null,
"cds_length": 2343,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852447.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522506.1",
"strand": true,
"transcript": "ENST00000852447.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 780,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4542,
"cdna_start": 671,
"cds_end": null,
"cds_length": 2343,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918911.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588970.1",
"strand": true,
"transcript": "ENST00000918911.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 780,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 682,
"cds_end": null,
"cds_length": 2343,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000959370.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629429.1",
"strand": true,
"transcript": "ENST00000959370.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 780,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": 620,
"cds_end": null,
"cds_length": 2343,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000959373.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629432.1",
"strand": true,
"transcript": "ENST00000959373.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4669,
"cdna_start": 801,
"cds_end": null,
"cds_length": 2340,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001301132.2",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288061.1",
"strand": true,
"transcript": "NM_001301132.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4589,
"cdna_start": 721,
"cds_end": null,
"cds_length": 2340,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852443.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522502.1",
"strand": true,
"transcript": "ENST00000852443.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4555,
"cdna_start": 690,
"cds_end": null,
"cds_length": 2340,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852446.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522505.1",
"strand": true,
"transcript": "ENST00000852446.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 779,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4747,
"cdna_start": 879,
"cds_end": null,
"cds_length": 2340,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918913.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588972.1",
"strand": true,
"transcript": "ENST00000918913.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 779,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4485,
"cdna_start": 620,
"cds_end": null,
"cds_length": 2340,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918916.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588975.1",
"strand": true,
"transcript": "ENST00000918916.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 777,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4580,
"cdna_start": 718,
"cds_end": null,
"cds_length": 2334,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001411044.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397973.1",
"strand": true,
"transcript": "NM_001411044.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 776,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 722,
"cds_end": null,
"cds_length": 2331,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000852444.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522503.1",
"strand": true,
"transcript": "ENST00000852444.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4772,
"cdna_start": 913,
"cds_end": null,
"cds_length": 2331,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918912.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588971.1",
"strand": true,
"transcript": "ENST00000918912.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 816,
"cds_end": null,
"cds_length": 2331,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000918914.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588973.1",
"strand": true,
"transcript": "ENST00000918914.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4715,
"cdna_start": 851,
"cds_end": null,
"cds_length": 2331,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000918915.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588974.1",
"strand": true,
"transcript": "ENST00000918915.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 776,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4573,
"cdna_start": 711,
"cds_end": null,
"cds_length": 2331,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000918917.1",
"gene_hgnc_id": 29153,
"gene_symbol": "BAHD1",
"hgvs_c": "c.578C>A",
"hgvs_p": "p.Pro193His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588976.1",
"strand": true,
"transcript": "ENST00000918917.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 776,
"aa_ref": "P",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4741,
"cdna_start": 876,
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