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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: 8-140435118-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=140435118&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRAPPC9",
"hgnc_id": 30832,
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Trp",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001374682.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS1",
"acmg_score": -6,
"allele_count_reference_population": 1132,
"alphamissense_prediction": null,
"alphamissense_score": 0.7691,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "8",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " autosomal recessive 13,Inborn genetic diseases,Intellectual disability,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:7",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1282176971435547,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6899,
"cdna_start": 969,
"cds_end": null,
"cds_length": 3447,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001160372.4",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000438773.4",
"protein_coding": true,
"protein_id": "NP_001153844.1",
"strand": false,
"transcript": "NM_001160372.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6899,
"cdna_start": 969,
"cds_end": null,
"cds_length": 3447,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000438773.4",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001160372.4",
"protein_coding": true,
"protein_id": "ENSP00000405060.3",
"strand": false,
"transcript": "ENST00000438773.4",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 991,
"aa_ref": "R",
"aa_start": 137,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3693,
"cdna_start": 410,
"cds_end": null,
"cds_length": 2976,
"cds_start": 409,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000520857.5",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430116.1",
"strand": false,
"transcript": "ENST00000520857.5",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1155,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6920,
"cdna_start": 990,
"cds_end": null,
"cds_length": 3468,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001374682.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361611.1",
"strand": false,
"transcript": "NM_001374682.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1155,
"aa_ref": "R",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4300,
"cdna_start": 990,
"cds_end": null,
"cds_length": 3468,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889106.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.874C>T",
"hgvs_p": "p.Arg292Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559165.1",
"strand": false,
"transcript": "ENST00000889106.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7092,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 3447,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_031466.8",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_113654.5",
"strand": false,
"transcript": "NM_031466.8",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7092,
"cdna_start": 1162,
"cds_end": null,
"cds_length": 3447,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000648948.2",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498020.1",
"strand": false,
"transcript": "ENST00000648948.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 3447,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000889103.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559162.1",
"strand": false,
"transcript": "ENST00000889103.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": 973,
"cds_end": null,
"cds_length": 3447,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889105.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559164.1",
"strand": false,
"transcript": "ENST00000889105.1",
"transcript_support_level": null
},
{
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"aa_length": 1148,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4265,
"cdna_start": 954,
"cds_end": null,
"cds_length": 3447,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889109.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559168.1",
"strand": false,
"transcript": "ENST00000889109.1",
"transcript_support_level": null
},
{
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"aa_length": 1146,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 3441,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967712.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637771.1",
"strand": false,
"transcript": "ENST00000967712.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 969,
"cds_end": null,
"cds_length": 3420,
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"consequences": [
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],
"exon_count": 22,
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"feature": "NM_001321646.2",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001308575.1",
"strand": false,
"transcript": "NM_001321646.2",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000920031.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590090.1",
"strand": false,
"transcript": "ENST00000920031.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4223,
"cdna_start": 951,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
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"feature": "ENST00000920035.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590094.1",
"strand": false,
"transcript": "ENST00000920035.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_start": 969,
"cds_end": null,
"cds_length": 3336,
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"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001374683.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361612.1",
"strand": false,
"transcript": "NM_001374683.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 988,
"cds_end": null,
"cds_length": 3336,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000967713.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637772.1",
"strand": false,
"transcript": "ENST00000967713.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 21,
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"feature": "ENST00000920033.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000590092.1",
"strand": false,
"transcript": "ENST00000920033.1",
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},
{
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001374684.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001361613.1",
"strand": false,
"transcript": "NM_001374684.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 22,
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"exon_rank_end": null,
"feature": "ENST00000889102.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559161.1",
"strand": false,
"transcript": "ENST00000889102.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 931,
"cds_end": null,
"cds_length": 3267,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000920036.1",
"gene_hgnc_id": 30832,
"gene_symbol": "TRAPPC9",
"hgvs_c": "c.853C>T",
"hgvs_p": "p.Arg285Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590095.1",
"strand": false,
"transcript": "ENST00000920036.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
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"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4069,
"cdna_start": 972,
"cds_end": null,
"cds_length": 3234,
"cds_start": 853,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000889104.1",
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