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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: 11-9829388-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=9829388&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SBF2",
"hgnc_id": 2135,
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_001386339.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS1",
"acmg_score": -3,
"allele_count_reference_population": 39,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1977,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.11,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Charcot-Marie-Tooth disease type 4,Charcot-Marie-Tooth disease type 4B2,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7734936475753784,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1849,
"aa_ref": "L",
"aa_start": 1254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7450,
"cdna_start": 3911,
"cds_end": null,
"cds_length": 5550,
"cds_start": 3761,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_030962.4",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000256190.13",
"protein_coding": true,
"protein_id": "NP_112224.1",
"strand": false,
"transcript": "NM_030962.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1849,
"aa_ref": "L",
"aa_start": 1254,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7450,
"cdna_start": 3911,
"cds_end": null,
"cds_length": 5550,
"cds_start": 3761,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000256190.13",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_030962.4",
"protein_coding": true,
"protein_id": "ENSP00000256190.8",
"strand": false,
"transcript": "ENST00000256190.13",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1881,
"aa_ref": "L",
"aa_start": 1254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7546,
"cdna_start": 3911,
"cds_end": null,
"cds_length": 5646,
"cds_start": 3761,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001386339.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373268.1",
"strand": false,
"transcript": "NM_001386339.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1881,
"aa_ref": "L",
"aa_start": 1254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7279,
"cdna_start": 3820,
"cds_end": null,
"cds_length": 5646,
"cds_start": 3761,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000689128.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509587.1",
"strand": false,
"transcript": "ENST00000689128.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1874,
"aa_ref": "L",
"aa_start": 1254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7347,
"cdna_start": 3911,
"cds_end": null,
"cds_length": 5625,
"cds_start": 3761,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000675281.2",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502491.1",
"strand": false,
"transcript": "ENST00000675281.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1868,
"aa_ref": "L",
"aa_start": 1216,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7167,
"cdna_start": 3785,
"cds_end": null,
"cds_length": 5607,
"cds_start": 3647,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000676387.2",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3647T>C",
"hgvs_p": "p.Leu1216Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502779.1",
"strand": false,
"transcript": "ENST00000676387.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "L",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7880,
"cdna_start": 4341,
"cds_end": null,
"cds_length": 5586,
"cds_start": 3797,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001424318.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3797T>C",
"hgvs_p": "p.Leu1266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411247.1",
"strand": false,
"transcript": "NM_001424318.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1861,
"aa_ref": "L",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7680,
"cdna_start": 4141,
"cds_end": null,
"cds_length": 5586,
"cds_start": 3797,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001425070.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3797T>C",
"hgvs_p": "p.Leu1266Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411999.1",
"strand": false,
"transcript": "NM_001425070.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1847,
"aa_ref": "L",
"aa_start": 1252,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7452,
"cdna_start": 3913,
"cds_end": null,
"cds_length": 5544,
"cds_start": 3755,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000689940.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3755T>C",
"hgvs_p": "p.Leu1252Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508452.1",
"strand": false,
"transcript": "ENST00000689940.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1828,
"aa_ref": "L",
"aa_start": 1208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6667,
"cdna_start": 3764,
"cds_end": null,
"cds_length": 5487,
"cds_start": 3623,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000689258.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3623T>C",
"hgvs_p": "p.Leu1208Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510475.1",
"strand": false,
"transcript": "ENST00000689258.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "L",
"aa_start": 1211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7321,
"cdna_start": 3782,
"cds_end": null,
"cds_length": 5421,
"cds_start": 3632,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001386342.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3632T>C",
"hgvs_p": "p.Leu1211Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373271.1",
"strand": false,
"transcript": "NM_001386342.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1806,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9215,
"cdna_start": 3784,
"cds_end": null,
"cds_length": 5421,
"cds_start": 3632,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000692716.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3632T>C",
"hgvs_p": "p.Leu1211Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509545.1",
"strand": false,
"transcript": "ENST00000692716.1",
"transcript_support_level": null
},
{
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"aa_length": 1755,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9406,
"cdna_start": 4259,
"cds_end": null,
"cds_length": 5268,
"cds_start": 3761,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000856971.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527030.1",
"strand": false,
"transcript": "ENST00000856971.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1718,
"aa_ref": "L",
"aa_start": 1123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6763,
"cdna_start": 3368,
"cds_end": null,
"cds_length": 5157,
"cds_start": 3368,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000688344.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3368T>C",
"hgvs_p": "p.Leu1123Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509987.1",
"strand": false,
"transcript": "ENST00000688344.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1312,
"aa_ref": "L",
"aa_start": 822,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4133,
"cdna_start": 2465,
"cds_end": null,
"cds_length": 3939,
"cds_start": 2465,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000689597.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.2465T>C",
"hgvs_p": "p.Leu822Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510781.1",
"strand": false,
"transcript": "ENST00000689597.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1554,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4925,
"cdna_start": 3911,
"cds_end": null,
"cds_length": 4665,
"cds_start": 3761,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_047427657.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047283613.1",
"strand": false,
"transcript": "XM_047427657.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 1267,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4245,
"cdna_start": 3911,
"cds_end": null,
"cds_length": 3804,
"cds_start": 3761,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "XM_011520395.4",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3761T>C",
"hgvs_p": "p.Leu1254Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518697.1",
"strand": false,
"transcript": "XM_011520395.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7539,
"cdna_start": null,
"cds_end": null,
"cds_length": 5445,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425069.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.3688+2836T>C",
"hgvs_p": null,
"intron_rank": 28,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001411998.1",
"strand": false,
"transcript": "NM_001425069.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3006,
"cdna_start": null,
"cds_end": null,
"cds_length": 3006,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000530741.2",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "c.2356+2836T>C",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432643.2",
"strand": false,
"transcript": "ENST00000530741.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 572,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000533584.1",
"gene_hgnc_id": 2135,
"gene_symbol": "SBF2",
"hgvs_c": "n.281T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000533584.1",
"transcript_support_level": 4
},
{
"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": 7085,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 42,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000676324.2",
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}