← Back to variant description
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: 20-388143-CCC-AGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=388143&ref=CCC&alt=AGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "TRIB3",
"hgnc_id": 16228,
"hgvs_c": "c.214_216delCCCinsAGA",
"hgvs_p": "p.Pro72Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001301201.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_021158.5",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000217233.9",
"protein_coding": true,
"protein_id": "NP_066981.2",
"strand": true,
"transcript": "NM_021158.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 543,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000217233.9",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021158.5",
"protein_coding": true,
"protein_id": "ENSP00000217233.3",
"strand": true,
"transcript": "ENST00000217233.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 398,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 571,
"cds_end": null,
"cds_length": 1197,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883799.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553858.1",
"strand": true,
"transcript": "ENST00000883799.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 385,
"aa_ref": "P",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2346,
"cdna_start": 533,
"cds_end": null,
"cds_length": 1158,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301201.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.214_216delCCCinsAGA",
"hgvs_p": "p.Pro72Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288130.1",
"strand": true,
"transcript": "NM_001301201.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 385,
"aa_ref": "P",
"aa_start": 72,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1533,
"cdna_start": 531,
"cds_end": null,
"cds_length": 1158,
"cds_start": 214,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422053.3",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.214_216delCCCinsAGA",
"hgvs_p": "p.Pro72Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000415416.2",
"strand": true,
"transcript": "ENST00000422053.3",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1980,
"cdna_start": 167,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301188.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288117.1",
"strand": true,
"transcript": "NM_001301188.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1995,
"cdna_start": 182,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301190.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288119.1",
"strand": true,
"transcript": "NM_001301190.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 280,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301193.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288122.1",
"strand": true,
"transcript": "NM_001301193.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2152,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001301196.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288125.1",
"strand": true,
"transcript": "NM_001301196.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2174,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000449710.6",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000391873.2",
"strand": true,
"transcript": "ENST00000449710.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2432,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000615226.5",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478194.2",
"strand": true,
"transcript": "ENST00000615226.5",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2756,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000714424.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519693.1",
"strand": true,
"transcript": "ENST00000714424.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2324,
"cdna_start": 511,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000714425.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519694.1",
"strand": true,
"transcript": "ENST00000714425.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 251,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000714427.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519696.1",
"strand": true,
"transcript": "ENST00000714427.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1969,
"cdna_start": 156,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000714428.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519697.1",
"strand": true,
"transcript": "ENST00000714428.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2498,
"cdna_start": 691,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883797.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553856.1",
"strand": true,
"transcript": "ENST00000883797.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 195,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883798.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553857.1",
"strand": true,
"transcript": "ENST00000883798.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2217,
"cdna_start": 410,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883800.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553859.1",
"strand": true,
"transcript": "ENST00000883800.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1981,
"cdna_start": 174,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883801.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553860.1",
"strand": true,
"transcript": "ENST00000883801.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 231,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930143.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600202.1",
"strand": true,
"transcript": "ENST00000930143.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2815,
"cdna_start": 1005,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000930144.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600203.1",
"strand": true,
"transcript": "ENST00000930144.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2510,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1077,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969420.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639479.1",
"strand": true,
"transcript": "ENST00000969420.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 115,
"aa_ref": "P",
"aa_start": 45,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1763,
"cdna_start": 243,
"cds_end": null,
"cds_length": 348,
"cds_start": 133,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000714426.1",
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"hgvs_c": "c.133_135delCCCinsAGA",
"hgvs_p": "p.Pro45Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519695.1",
"strand": true,
"transcript": "ENST00000714426.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 16228,
"gene_symbol": "TRIB3",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.275,
"pos": 388143,
"ref": "CCC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_001301201.1"
}
]
}