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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: 12-1988550-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=1988550&ref=T&alt=G&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": "DCP1B",
"hgnc_id": 24451,
"hgvs_c": "c.319+4714A>C",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_152640.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CACNA1C",
"hgnc_id": 1390,
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000682544.1",
"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": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 617,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": null,
"cds_end": null,
"cds_length": 1854,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152640.5",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.319+4714A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000280665.11",
"protein_coding": true,
"protein_id": "NP_689853.3",
"strand": false,
"transcript": "NM_152640.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 617,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2033,
"cdna_start": null,
"cds_end": null,
"cds_length": 1854,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000280665.11",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.319+4714A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152640.5",
"protein_coding": true,
"protein_id": "ENSP00000280665.6",
"strand": false,
"transcript": "ENST00000280665.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2251,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7047,
"cdna_start": null,
"cds_end": null,
"cds_length": 6756,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682544.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507184.1",
"strand": true,
"transcript": "ENST00000682544.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2193,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6582,
"cdna_start": null,
"cds_end": null,
"cds_length": 6582,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683824.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507867.1",
"strand": true,
"transcript": "ENST00000683824.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7059,
"cdna_start": null,
"cds_end": null,
"cds_length": 6507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682462.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507105.1",
"strand": true,
"transcript": "ENST00000682462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6750,
"cdna_start": null,
"cds_end": null,
"cds_length": 6507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683781.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507434.1",
"strand": true,
"transcript": "ENST00000683781.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6553,
"cdna_start": null,
"cds_end": null,
"cds_length": 6507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683840.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507612.1",
"strand": true,
"transcript": "ENST00000683840.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2168,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6553,
"cdna_start": null,
"cds_end": null,
"cds_length": 6507,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683956.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506882.1",
"strand": true,
"transcript": "ENST00000683956.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 674,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2199,
"cdna_start": null,
"cds_end": null,
"cds_length": 2025,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971563.1",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.319+4714A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641622.1",
"strand": false,
"transcript": "ENST00000971563.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 644,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": null,
"cds_end": null,
"cds_length": 1935,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883051.1",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.400+4714A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553110.1",
"strand": false,
"transcript": "ENST00000883051.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 616,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2016,
"cdna_start": null,
"cds_end": null,
"cds_length": 1851,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913952.1",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.316+4714A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584011.1",
"strand": false,
"transcript": "ENST00000913952.1",
"transcript_support_level": null
},
{
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"aa_length": 586,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1929,
"cdna_start": null,
"cds_end": null,
"cds_length": 1761,
"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000883049.1",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.319+4714A>C",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553108.1",
"strand": false,
"transcript": "ENST00000883049.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000913950.1",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.319+4714A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584010.1",
"strand": false,
"transcript": "ENST00000913950.1",
"transcript_support_level": null
},
{
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"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,
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"cds_start": null,
"consequences": [
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],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000883050.1",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.319+4714A>C",
"hgvs_p": null,
"intron_rank": 3,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553109.1",
"strand": false,
"transcript": "ENST00000883050.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_length": 1605,
"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000971564.1",
"gene_hgnc_id": 24451,
"gene_symbol": "DCP1B",
"hgvs_c": "c.319+4714A>C",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641623.1",
"strand": false,
"transcript": "ENST00000971564.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 14273,
"cdna_start": null,
"cds_end": null,
"cds_length": 7239,
"cds_start": null,
"consequences": [
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],
"exon_count": 53,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017019926.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875415.1",
"strand": true,
"transcript": "XM_017019926.3",
"transcript_support_level": null
},
{
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"canonical": false,
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"consequences": [
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],
"exon_count": 52,
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"feature": "XM_017019927.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016875416.1",
"strand": true,
"transcript": "XM_017019927.3",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 52,
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"feature": "XM_047429513.1",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047285469.1",
"strand": true,
"transcript": "XM_047429513.1",
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},
{
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"consequences": [
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],
"exon_count": 51,
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"feature": "XM_017019928.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875417.1",
"strand": true,
"transcript": "XM_017019928.3",
"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": 13898,
"cdna_start": null,
"cds_end": null,
"cds_length": 6864,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017019929.3",
"gene_hgnc_id": 1390,
"gene_symbol": "CACNA1C",
"hgvs_c": "c.139+17349T>G",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016875418.1",
"strand": true,
"transcript": "XM_017019929.3",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13898,
"cdna_start": null,
"cds_end": null,
"cds_length": 6864,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017019930.3",
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