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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: 3-177050010-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=177050010&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate",
"PP5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TBL1XR1",
"hgnc_id": 29529,
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"inheritance_mode": "AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_024665.7",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate,PP5",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9996,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.31,
"chr": "3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " autosomal dominant 41,Inborn genetic diseases,Intellectual disability,Pierpont syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:1 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.897354006767273,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_024665.7",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000457928.7",
"protein_coding": true,
"protein_id": "NP_078941.2",
"strand": false,
"transcript": "NM_024665.7",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8182,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000457928.7",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024665.7",
"protein_coding": true,
"protein_id": "ENSP00000413251.3",
"strand": false,
"transcript": "ENST00000457928.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7948,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000430069.5",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405574.1",
"strand": false,
"transcript": "ENST00000430069.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7959,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001321193.3",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308122.1",
"strand": false,
"transcript": "NM_001321193.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8301,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001321194.3",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308123.1",
"strand": false,
"transcript": "NM_001321194.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8106,
"cdna_start": 1096,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001374327.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361256.1",
"strand": false,
"transcript": "NM_001374327.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7989,
"cdna_start": 979,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374328.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361257.1",
"strand": false,
"transcript": "NM_001374328.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7970,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001374329.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361258.1",
"strand": false,
"transcript": "NM_001374329.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 866,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000352800.10",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263964.11",
"strand": false,
"transcript": "ENST00000352800.10",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2619,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000422066.6",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398477.2",
"strand": false,
"transcript": "ENST00000422066.6",
"transcript_support_level": 4
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2535,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000422442.6",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387849.3",
"strand": false,
"transcript": "ENST00000422442.6",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6502,
"cdna_start": 920,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000673974.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501274.1",
"strand": false,
"transcript": "ENST00000673974.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8082,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000704383.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515885.1",
"strand": false,
"transcript": "ENST00000704383.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1991,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000704384.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515886.1",
"strand": false,
"transcript": "ENST00000704384.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1902,
"cdna_start": 995,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000704385.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515887.1",
"strand": false,
"transcript": "ENST00000704385.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3991,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000883460.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553519.1",
"strand": false,
"transcript": "ENST00000883460.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3986,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883461.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553520.1",
"strand": false,
"transcript": "ENST00000883461.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2888,
"cdna_start": 980,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883462.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553521.1",
"strand": false,
"transcript": "ENST00000883462.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4465,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000883463.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553522.1",
"strand": false,
"transcript": "ENST00000883463.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 1205,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000883464.1",
"gene_hgnc_id": 29529,
"gene_symbol": "TBL1XR1",
"hgvs_c": "c.689C>T",
"hgvs_p": "p.Ser230Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553523.1",
"strand": false,
"transcript": "ENST00000883464.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 514,
"aa_ref": "S",
"aa_start": 230,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4434,
"cdna_start": 1400,
"cds_end": null,
"cds_length": 1545,
"cds_start": 689,
"consequences": [
"missense_variant"
],
"exon_count": 18,
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}