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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: X-155524585-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=155524585&ref=G&alt=T&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": "TMLHE",
"hgnc_id": 18308,
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"inheritance_mode": "Unknown,XL",
"pathogenic_score": 2,
"score": -1,
"transcript": "NM_018196.4",
"verdict": "Likely_benign"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMLHE-AS1",
"hgnc_id": 44261,
"hgvs_c": "n.214+14684G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000833578.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP7",
"acmg_score": -1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3952,
"cdna_start": 391,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_018196.4",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334398.8",
"protein_coding": true,
"protein_id": "NP_060666.1",
"strand": false,
"transcript": "NM_018196.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3952,
"cdna_start": 391,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000334398.8",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018196.4",
"protein_coding": true,
"protein_id": "ENSP00000335261.3",
"strand": false,
"transcript": "ENST00000334398.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1248,
"cdna_start": 316,
"cds_end": null,
"cds_length": 1131,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000369439.4",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358447.4",
"strand": false,
"transcript": "ENST00000369439.4",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
"aa_start": 100,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1335,
"cds_start": 298,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902557.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.298C>A",
"hgvs_p": "p.Arg100Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572616.1",
"strand": false,
"transcript": "ENST00000902557.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 432,
"aa_ref": "R",
"aa_start": 88,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 486,
"cds_end": null,
"cds_length": 1299,
"cds_start": 262,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000675642.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.262C>A",
"hgvs_p": "p.Arg88Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502604.1",
"strand": false,
"transcript": "ENST00000675642.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 311,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902548.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572607.1",
"strand": false,
"transcript": "ENST00000902548.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3965,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902549.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572608.1",
"strand": false,
"transcript": "ENST00000902549.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000902550.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572609.1",
"strand": false,
"transcript": "ENST00000902550.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 497,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902551.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572610.1",
"strand": false,
"transcript": "ENST00000902551.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902554.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572613.1",
"strand": false,
"transcript": "ENST00000902554.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 456,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000902555.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572614.1",
"strand": false,
"transcript": "ENST00000902555.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 588,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960922.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630981.1",
"strand": false,
"transcript": "ENST00000960922.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 667,
"cds_end": null,
"cds_length": 1266,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000960923.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630982.1",
"strand": false,
"transcript": "ENST00000960923.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 391,
"cds_end": null,
"cds_length": 1146,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902556.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572615.1",
"strand": false,
"transcript": "ENST00000902556.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 376,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1323,
"cdna_start": 391,
"cds_end": null,
"cds_length": 1131,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001184797.2",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171726.1",
"strand": false,
"transcript": "NM_001184797.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 342,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 391,
"cds_end": null,
"cds_length": 1029,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902553.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572612.1",
"strand": false,
"transcript": "ENST00000902553.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 334,
"cds_end": null,
"cds_length": 972,
"cds_start": 229,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000960924.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630983.1",
"strand": false,
"transcript": "ENST00000960924.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 370,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 263,
"cds_end": null,
"cds_length": 1113,
"cds_start": 76,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011531182.4",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.76C>A",
"hgvs_p": "p.Arg26Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529484.1",
"strand": false,
"transcript": "XM_011531182.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 370,
"aa_ref": "R",
"aa_start": 26,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": 361,
"cds_end": null,
"cds_length": 1113,
"cds_start": 76,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047442234.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.76C>A",
"hgvs_p": "p.Arg26Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298190.1",
"strand": false,
"transcript": "XM_047442234.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": 209,
"cds_end": null,
"cds_length": 1062,
"cds_start": 25,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "XM_047442235.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.25C>A",
"hgvs_p": "p.Arg9Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298191.1",
"strand": false,
"transcript": "XM_047442235.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 55,
"cds_end": null,
"cds_length": 1062,
"cds_start": 25,
"consequences": [
"synonymous_variant"
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