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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: 11-108121608-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108121608&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PS1_Moderate",
"PM2",
"PP5_Moderate"
],
"effects": [
"start_lost"
],
"gene_symbol": "ACAT1",
"hgnc_id": 93,
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"inheritance_mode": "AR",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_001386677.1",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000255467",
"hgnc_id": null,
"hgvs_c": "n.77A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 8,
"score": 8,
"transcript": "ENST00000525548.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS1_Moderate,PM2,PP5_Moderate",
"acmg_score": 14,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.42,
"chr": "11",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Deficiency of acetyl-CoA acetyltransferase",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9867167472839355,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 427,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1284,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_000019.4",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265838.9",
"protein_coding": true,
"protein_id": "NP_000010.1",
"strand": true,
"transcript": "NM_000019.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 427,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1284,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000265838.9",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000019.4",
"protein_coding": true,
"protein_id": "ENSP00000265838.4",
"strand": true,
"transcript": "ENST00000265838.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 162,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 42,
"cds_end": null,
"cds_length": 489,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000299355.10",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000299355.6",
"strand": true,
"transcript": "ENST00000299355.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000531813.5",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "n.2T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435965.1",
"strand": true,
"transcript": "ENST00000531813.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 435,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1511,
"cdna_start": 13,
"cds_end": null,
"cds_length": 1308,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907956.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578015.1",
"strand": true,
"transcript": "ENST00000907956.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 434,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1305,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001386677.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373606.1",
"strand": true,
"transcript": "NM_001386677.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 434,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 37,
"cds_end": null,
"cds_length": 1305,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000672354.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500490.1",
"strand": true,
"transcript": "ENST00000672354.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 429,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 77,
"cds_end": null,
"cds_length": 1290,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000959310.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629369.1",
"strand": true,
"transcript": "ENST00000959310.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 425,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 43,
"cds_end": null,
"cds_length": 1278,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907949.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578008.1",
"strand": true,
"transcript": "ENST00000907949.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 424,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1275,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907950.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578009.1",
"strand": true,
"transcript": "ENST00000907950.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 422,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 40,
"cds_end": null,
"cds_length": 1269,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000959311.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629370.1",
"strand": true,
"transcript": "ENST00000959311.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 414,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1245,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907951.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578010.1",
"strand": true,
"transcript": "ENST00000907951.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 413,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1242,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907954.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578013.1",
"strand": true,
"transcript": "ENST00000907954.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 410,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 79,
"cds_end": null,
"cds_length": 1233,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907943.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578002.1",
"strand": true,
"transcript": "ENST00000907943.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 407,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 71,
"cds_end": null,
"cds_length": 1224,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907944.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578003.1",
"strand": true,
"transcript": "ENST00000907944.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 406,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1221,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907953.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578012.1",
"strand": true,
"transcript": "ENST00000907953.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 404,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1461,
"cdna_start": 40,
"cds_end": null,
"cds_length": 1215,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000938152.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608211.1",
"strand": true,
"transcript": "ENST00000938152.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 395,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 79,
"cds_end": null,
"cds_length": 1188,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907942.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578001.1",
"strand": true,
"transcript": "ENST00000907942.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_length": 395,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1188,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907946.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578005.1",
"strand": true,
"transcript": "ENST00000907946.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 379,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1140,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000907952.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.2T>A",
"hgvs_p": "p.Met1?",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578011.1",
"strand": true,
"transcript": "ENST00000907952.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 360,
"aa_ref": "M",
"aa_start": 1,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 42,
"cds_end": null,
"cds_length": 1083,
"cds_start": 2,
"consequences": [
"start_lost"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
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}