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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: 19-49662076-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49662076&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IRF3",
"hgnc_id": 6118,
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 0,
"transcript": "NM_001197122.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong,BS2",
"acmg_score": 0,
"allele_count_reference_population": 36,
"alphamissense_prediction": null,
"alphamissense_score": 0.6111,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"chr": "19",
"clinvar_classification": " risk factor,Uncertain significance",
"clinvar_disease": " 7, acute, infection-induced (herpes-specific), susceptibility to,Encephalopathy,IRF3-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9782013893127441,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1284,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001571.6",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000377139.8",
"protein_coding": true,
"protein_id": "NP_001562.1",
"strand": false,
"transcript": "NM_001571.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1595,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1284,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000377139.8",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001571.6",
"protein_coding": true,
"protein_id": "ENSP00000366344.3",
"strand": false,
"transcript": "ENST00000377139.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1556,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1359,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000601291.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471896.1",
"strand": false,
"transcript": "ENST00000601291.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1691,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1284,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000309877.11",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000310127.6",
"strand": false,
"transcript": "ENST00000309877.11",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 281,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1494,
"cdna_start": 995,
"cds_end": null,
"cds_length": 846,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000593922.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472601.1",
"strand": false,
"transcript": "ENST00000593922.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 281,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1117,
"cdna_start": 618,
"cds_end": null,
"cds_length": 846,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000599144.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470069.1",
"strand": false,
"transcript": "ENST00000599144.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 300,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1055,
"cdna_start": null,
"cds_end": null,
"cds_length": 903,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000599223.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.601+349G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471358.1",
"strand": false,
"transcript": "ENST00000599223.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 710,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000596765.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.163+349G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470512.1",
"strand": false,
"transcript": "ENST00000596765.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 154,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 882,
"cdna_start": null,
"cds_end": null,
"cds_length": 465,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000600022.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.163+349G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472700.1",
"strand": false,
"transcript": "ENST00000600022.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1611,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1359,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001197122.2",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184051.1",
"strand": false,
"transcript": "NM_001197122.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1284,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000597198.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469113.1",
"strand": false,
"transcript": "ENST00000597198.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1598,
"cdna_start": 1089,
"cds_end": null,
"cds_length": 1284,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890747.1",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560806.1",
"strand": false,
"transcript": "ENST00000890747.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1284,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000890751.1",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560810.1",
"strand": false,
"transcript": "ENST00000890751.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 1284,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921361.1",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591420.1",
"strand": false,
"transcript": "ENST00000921361.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 427,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1587,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1284,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000942552.1",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612611.1",
"strand": false,
"transcript": "ENST00000942552.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 408,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1227,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000600911.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470431.1",
"strand": false,
"transcript": "ENST00000600911.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 392,
"aa_ref": "R",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 1147,
"cds_end": null,
"cds_length": 1179,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001197123.2",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Arg250Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001184052.1",
"strand": false,
"transcript": "NM_001197123.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 371,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1348,
"cdna_start": 845,
"cds_end": null,
"cds_length": 1116,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000921362.1",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591421.1",
"strand": false,
"transcript": "ENST00000921362.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 371,
"aa_ref": "R",
"aa_start": 229,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2166,
"cdna_start": 1662,
"cds_end": null,
"cds_length": 1116,
"cds_start": 686,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000942553.1",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.686G>A",
"hgvs_p": "p.Arg229Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612612.1",
"strand": false,
"transcript": "ENST00000942553.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 286,
"aa_ref": "R",
"aa_start": 285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1118,
"cdna_start": 1111,
"cds_end": null,
"cds_length": 861,
"cds_start": 854,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000598108.5",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.854G>A",
"hgvs_p": "p.Arg285Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000472223.1",
"strand": false,
"transcript": "ENST00000598108.5",
"transcript_support_level": 3
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 281,
"aa_ref": "R",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1422,
"cdna_start": 916,
"cds_end": null,
"cds_length": 846,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001197125.2",
"gene_hgnc_id": 6118,
"gene_symbol": "IRF3",
"hgvs_c": "c.416G>A",
"hgvs_p": "p.Arg139Gln",
"intron_rank": null,
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