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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: 22-50456591-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50456591&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SBF1",
"hgnc_id": 10542,
"hgvs_c": "c.3990G>C",
"hgvs_p": "p.Ala1330Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_001410794.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "22",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1893,
"aa_ref": "A",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8019,
"cdna_start": 4182,
"cds_end": null,
"cds_length": 5682,
"cds_start": 3987,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_002972.4",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380817.8",
"protein_coding": true,
"protein_id": "NP_002963.2",
"strand": false,
"transcript": "NM_002972.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1893,
"aa_ref": "A",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8019,
"cdna_start": 4182,
"cds_end": null,
"cds_length": 5682,
"cds_start": 3987,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000380817.8",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002972.4",
"protein_coding": true,
"protein_id": "ENSP00000370196.2",
"strand": false,
"transcript": "ENST00000380817.8",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1913,
"aa_ref": "A",
"aa_start": 1349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6267,
"cdna_start": 4242,
"cds_end": null,
"cds_length": 5742,
"cds_start": 4047,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000931646.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.4047G>C",
"hgvs_p": "p.Ala1349Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601705.1",
"strand": false,
"transcript": "ENST00000931646.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1900,
"aa_ref": "A",
"aa_start": 1336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8038,
"cdna_start": 4203,
"cds_end": null,
"cds_length": 5703,
"cds_start": 4008,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000967446.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.4008G>C",
"hgvs_p": "p.Ala1336Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637505.1",
"strand": false,
"transcript": "ENST00000967446.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1899,
"aa_ref": "A",
"aa_start": 1335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 4171,
"cds_end": null,
"cds_length": 5700,
"cds_start": 4005,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000693052.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.4005G>C",
"hgvs_p": "p.Ala1335Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509558.1",
"strand": false,
"transcript": "ENST00000693052.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1897,
"aa_ref": "A",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6224,
"cdna_start": 4193,
"cds_end": null,
"cds_length": 5694,
"cds_start": 3999,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000931645.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3999G>C",
"hgvs_p": "p.Ala1333Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601704.1",
"strand": false,
"transcript": "ENST00000931645.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1896,
"aa_ref": "A",
"aa_start": 1332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6221,
"cdna_start": 4191,
"cds_end": null,
"cds_length": 5691,
"cds_start": 3996,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000967449.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3996G>C",
"hgvs_p": "p.Ala1332Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637508.1",
"strand": false,
"transcript": "ENST00000967449.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1894,
"aa_ref": "A",
"aa_start": 1330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8022,
"cdna_start": 4185,
"cds_end": null,
"cds_length": 5685,
"cds_start": 3990,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001410794.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3990G>C",
"hgvs_p": "p.Ala1330Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397723.1",
"strand": false,
"transcript": "NM_001410794.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1894,
"aa_ref": "A",
"aa_start": 1330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6200,
"cdna_start": 4175,
"cds_end": null,
"cds_length": 5685,
"cds_start": 3990,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000684986.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3990G>C",
"hgvs_p": "p.Ala1330Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509117.1",
"strand": false,
"transcript": "ENST00000684986.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1893,
"aa_ref": "A",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6110,
"cdna_start": 4157,
"cds_end": null,
"cds_length": 5682,
"cds_start": 3987,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000688066.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510782.1",
"strand": false,
"transcript": "ENST00000688066.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1892,
"aa_ref": "A",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6187,
"cdna_start": 4156,
"cds_end": null,
"cds_length": 5679,
"cds_start": 3984,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000693440.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3984G>C",
"hgvs_p": "p.Ala1328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509462.1",
"strand": false,
"transcript": "ENST00000693440.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1892,
"aa_ref": "A",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6193,
"cdna_start": 4166,
"cds_end": null,
"cds_length": 5679,
"cds_start": 3984,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000931647.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3984G>C",
"hgvs_p": "p.Ala1328Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601706.1",
"strand": false,
"transcript": "ENST00000931647.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1891,
"aa_ref": "A",
"aa_start": 1327,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6191,
"cdna_start": 4160,
"cds_end": null,
"cds_length": 5676,
"cds_start": 3981,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000690990.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3981G>C",
"hgvs_p": "p.Ala1327Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510461.1",
"strand": false,
"transcript": "ENST00000690990.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1890,
"aa_ref": "A",
"aa_start": 1326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6210,
"cdna_start": 4179,
"cds_end": null,
"cds_length": 5673,
"cds_start": 3978,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000899576.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3978G>C",
"hgvs_p": "p.Ala1326Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569635.1",
"strand": false,
"transcript": "ENST00000899576.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1890,
"aa_ref": "A",
"aa_start": 1330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6202,
"cdna_start": 4183,
"cds_end": null,
"cds_length": 5673,
"cds_start": 3990,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000967450.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3990G>C",
"hgvs_p": "p.Ala1330Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637509.1",
"strand": false,
"transcript": "ENST00000967450.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1889,
"aa_ref": "A",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6201,
"cdna_start": 4182,
"cds_end": null,
"cds_length": 5670,
"cds_start": 3987,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000931644.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601703.1",
"strand": false,
"transcript": "ENST00000931644.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1888,
"aa_ref": "A",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6179,
"cdna_start": 4177,
"cds_end": null,
"cds_length": 5667,
"cds_start": 3987,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000691792.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509911.1",
"strand": false,
"transcript": "ENST00000691792.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1880,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6174,
"cdna_start": 4182,
"cds_end": null,
"cds_length": 5643,
"cds_start": 3987,
"consequences": [
"synonymous_variant"
],
"exon_count": 41,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000689981.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Ala1329Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509035.1",
"strand": false,
"transcript": "ENST00000689981.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1873,
"aa_ref": "A",
"aa_start": 1309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6139,
"cdna_start": 4109,
"cds_end": null,
"cds_length": 5622,
"cds_start": 3927,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000967453.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3927G>C",
"hgvs_p": "p.Ala1309Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637512.1",
"strand": false,
"transcript": "ENST00000967453.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1871,
"aa_ref": "A",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6152,
"cdna_start": 4122,
"cds_end": null,
"cds_length": 5616,
"cds_start": 3921,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000967448.1",
"gene_hgnc_id": 10542,
"gene_symbol": "SBF1",
"hgvs_c": "c.3921G>C",
"hgvs_p": "p.Ala1307Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637507.1",
"strand": false,
"transcript": "ENST00000967448.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1868,
"aa_ref": "A",
"aa_start": 1304,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7944,
"cdna_start": 4107,
"cds_end": null,
"cds_length": 5607,
"cds_start": 3912,
"consequences": [
"synonymous_variant"
],
"exon_count": 40,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001365819.1",
"gene_hgnc_id": 10542,
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