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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: 2-26277141-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=26277141&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 3,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HADHB",
"hgnc_id": 4803,
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_000183.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.23000000417232513,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_000183.3",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000317799.10",
"protein_coding": true,
"protein_id": "NP_000174.1",
"strand": true,
"transcript": "NM_000183.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000317799.10",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000183.3",
"protein_coding": true,
"protein_id": "ENSP00000325136.5",
"strand": true,
"transcript": "ENST00000317799.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 502,
"aa_ref": "A",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2096,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1509,
"cds_start": 507,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942431.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.507C>A",
"hgvs_p": "p.Ala169Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612490.1",
"strand": true,
"transcript": "ENST00000942431.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 484,
"aa_ref": "A",
"aa_start": 151,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2177,
"cdna_start": 667,
"cds_end": null,
"cds_length": 1455,
"cds_start": 453,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942426.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.453C>A",
"hgvs_p": "p.Ala151Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612485.1",
"strand": true,
"transcript": "ENST00000942426.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1630,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1452,
"cds_start": 450,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859601.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.450C>A",
"hgvs_p": "p.Ala150Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529660.1",
"strand": true,
"transcript": "ENST00000859601.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 478,
"aa_ref": "A",
"aa_start": 145,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 521,
"cds_end": null,
"cds_length": 1437,
"cds_start": 435,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942427.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.435C>A",
"hgvs_p": "p.Ala145Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612486.1",
"strand": true,
"transcript": "ENST00000942427.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2082,
"cdna_start": 571,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859582.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529641.1",
"strand": true,
"transcript": "ENST00000859582.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 503,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859593.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529652.1",
"strand": true,
"transcript": "ENST00000859593.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1651,
"cdna_start": 502,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859599.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529658.1",
"strand": true,
"transcript": "ENST00000859599.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2244,
"cdna_start": 731,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942424.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612483.1",
"strand": true,
"transcript": "ENST00000942424.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 813,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942425.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612484.1",
"strand": true,
"transcript": "ENST00000942425.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2023,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942434.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612493.1",
"strand": true,
"transcript": "ENST00000942434.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 527,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000942437.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612496.1",
"strand": true,
"transcript": "ENST00000942437.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 546,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942440.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612499.1",
"strand": true,
"transcript": "ENST00000942440.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 529,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942441.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612500.1",
"strand": true,
"transcript": "ENST00000942441.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 474,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2057,
"cdna_start": 544,
"cds_end": null,
"cds_length": 1425,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942445.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612504.1",
"strand": true,
"transcript": "ENST00000942445.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 509,
"cds_end": null,
"cds_length": 1419,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859584.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529643.1",
"strand": true,
"transcript": "ENST00000859584.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 472,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 494,
"cds_end": null,
"cds_length": 1419,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859587.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529646.1",
"strand": true,
"transcript": "ENST00000859587.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 470,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2002,
"cdna_start": 500,
"cds_end": null,
"cds_length": 1413,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942429.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612488.1",
"strand": true,
"transcript": "ENST00000942429.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 468,
"aa_ref": "A",
"aa_start": 141,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1606,
"cdna_start": 479,
"cds_end": null,
"cds_length": 1407,
"cds_start": 423,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000859600.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.423C>A",
"hgvs_p": "p.Ala141Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000529659.1",
"strand": true,
"transcript": "ENST00000859600.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 467,
"aa_ref": "A",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1404,
"cds_start": 402,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000942435.1",
"gene_hgnc_id": 4803,
"gene_symbol": "HADHB",
"hgvs_c": "c.402C>A",
"hgvs_p": "p.Ala134Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612494.1",
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