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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: 1-209780527-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=209780527&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TRAF3IP3",
"hgnc_id": 30766,
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Gly457Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_025228.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "C1orf74",
"hgnc_id": 26319,
"hgvs_c": "c.*2298C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_152485.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "ENSG00000289700",
"hgnc_id": null,
"hgvs_c": "c.*3122C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000696133.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.0885,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1829732358455658,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 551,
"aa_ref": "G",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_025228.4",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Gly457Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367025.8",
"protein_coding": true,
"protein_id": "NP_079504.2",
"strand": true,
"transcript": "NM_025228.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 551,
"aa_ref": "G",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1786,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000367025.8",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Gly457Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025228.4",
"protein_coding": true,
"protein_id": "ENSP00000355992.3",
"strand": true,
"transcript": "ENST00000367025.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 531,
"aa_ref": "G",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2058,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000367026.7",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Gly437Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355993.3",
"strand": true,
"transcript": "ENST00000367026.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_152485.4",
"gene_hgnc_id": 26319,
"gene_symbol": "C1orf74",
"hgvs_c": "c.*2298C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294811.2",
"protein_coding": true,
"protein_id": "NP_689698.1",
"strand": false,
"transcript": "NM_152485.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 269,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": null,
"cds_end": null,
"cds_length": 810,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000294811.2",
"gene_hgnc_id": 26319,
"gene_symbol": "C1orf74",
"hgvs_c": "c.*2298C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152485.4",
"protein_coding": true,
"protein_id": "ENSP00000294811.1",
"strand": false,
"transcript": "ENST00000294811.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 486,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5789,
"cdna_start": null,
"cds_end": null,
"cds_length": 1461,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000696133.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289700",
"hgvs_c": "c.*3122C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512426.1",
"strand": false,
"transcript": "ENST00000696133.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 551,
"aa_ref": "G",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2334,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001320143.2",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Gly457Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307072.1",
"strand": true,
"transcript": "NM_001320143.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 551,
"aa_ref": "G",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2331,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000367024.5",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Gly457Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355991.1",
"strand": true,
"transcript": "ENST00000367024.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 551,
"aa_ref": "G",
"aa_start": 457,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 1698,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1370,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000884882.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1370G>A",
"hgvs_p": "p.Gly457Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554941.1",
"strand": true,
"transcript": "ENST00000884882.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 531,
"aa_ref": "G",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 1726,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001320144.2",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Gly437Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307073.1",
"strand": true,
"transcript": "NM_001320144.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 531,
"aa_ref": "G",
"aa_start": 437,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000884881.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1310G>A",
"hgvs_p": "p.Gly437Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554940.1",
"strand": true,
"transcript": "ENST00000884881.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 530,
"aa_ref": "G",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000884880.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1307G>A",
"hgvs_p": "p.Gly436Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554939.1",
"strand": true,
"transcript": "ENST00000884880.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 511,
"aa_ref": "G",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": 1564,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000884884.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1250G>A",
"hgvs_p": "p.Gly417Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554943.1",
"strand": true,
"transcript": "ENST00000884884.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 510,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2020,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1247,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000884883.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1247G>A",
"hgvs_p": "p.Gly416Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554942.1",
"strand": true,
"transcript": "ENST00000884883.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 490,
"aa_ref": "G",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 1520,
"cds_end": null,
"cds_length": 1473,
"cds_start": 1187,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000957589.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1187G>A",
"hgvs_p": "p.Gly396Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627648.1",
"strand": true,
"transcript": "ENST00000957589.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 287,
"aa_ref": "G",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1212,
"cdna_start": 764,
"cds_end": null,
"cds_length": 864,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005273279.6",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Gly193Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005273336.1",
"strand": true,
"transcript": "XM_005273279.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4548,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011510018.4",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.*1074G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011508320.1",
"strand": true,
"transcript": "XM_011510018.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 156,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 791,
"cdna_start": null,
"cds_end": null,
"cds_length": 471,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000477431.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.398-1529G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417417.1",
"strand": true,
"transcript": "ENST00000477431.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 461,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1983,
"cdna_start": null,
"cds_end": null,
"cds_length": 1386,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430963.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1312+1153G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286919.1",
"strand": true,
"transcript": "XM_047430963.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1816,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047430964.1",
"gene_hgnc_id": 30766,
"gene_symbol": "TRAF3IP3",
"hgvs_c": "c.1313-818G>A",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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]
}