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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: 15-55228677-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=55228677&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "RAB27A",
"hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_004580.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3",
"acmg_score": 4,
"allele_count_reference_population": 65,
"alphamissense_prediction": null,
"alphamissense_score": 0.9229,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.08,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Autoinflammatory syndrome,Griscelli syndrome type 2",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.802128255367279,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 515,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_183235.3",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000336787.6",
"protein_coding": true,
"protein_id": "NP_899058.1",
"strand": false,
"transcript": "NM_183235.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3447,
"cdna_start": 515,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000336787.6",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_183235.3",
"protein_coding": true,
"protein_id": "ENSP00000337761.1",
"strand": false,
"transcript": "ENST00000336787.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3459,
"cdna_start": 527,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000396307.6",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379601.2",
"strand": false,
"transcript": "ENST00000396307.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": 508,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000564609.5",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455012.1",
"strand": false,
"transcript": "ENST00000564609.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1013,
"cdna_start": 468,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000569493.5",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456059.1",
"strand": false,
"transcript": "ENST00000569493.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3631,
"cdna_start": 699,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438970.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425899.1",
"strand": false,
"transcript": "NM_001438970.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3711,
"cdna_start": 779,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438972.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425901.1",
"strand": false,
"transcript": "NM_001438972.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 727,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438973.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425902.1",
"strand": false,
"transcript": "NM_001438973.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 618,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438974.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425903.1",
"strand": false,
"transcript": "NM_001438974.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3536,
"cdna_start": 604,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438975.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425904.1",
"strand": false,
"transcript": "NM_001438975.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3663,
"cdna_start": 731,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001438976.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425905.1",
"strand": false,
"transcript": "NM_001438976.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3327,
"cdna_start": 395,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438977.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425906.1",
"strand": false,
"transcript": "NM_001438977.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 570,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001438978.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425907.1",
"strand": false,
"transcript": "NM_001438978.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3783,
"cdna_start": 851,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438979.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425908.1",
"strand": false,
"transcript": "NM_001438979.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3326,
"cdna_start": 394,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438980.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425909.1",
"strand": false,
"transcript": "NM_001438980.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4158,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001438981.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425910.1",
"strand": false,
"transcript": "NM_001438981.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 532,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_004580.5",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004571.2",
"strand": false,
"transcript": "NM_004580.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3553,
"cdna_start": 621,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_183234.3",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_899057.1",
"strand": false,
"transcript": "NM_183234.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3413,
"cdna_start": 481,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_183236.3",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_899059.1",
"strand": false,
"transcript": "NM_183236.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 388,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000697642.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513368.1",
"strand": false,
"transcript": "ENST00000697642.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 221,
"aa_ref": "A",
"aa_start": 92,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 604,
"cds_end": null,
"cds_length": 666,
"cds_start": 275,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000697643.1",
"gene_hgnc_id": 9766,
"gene_symbol": "RAB27A",
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513369.1",
"strand": false,
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