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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
{
"variants": [
{
"chr": "15",
"pos": 55228677,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000336787.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_183235.3",
"protein_id": "NP_899058.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": "ENST00000336787.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000336787.6",
"protein_id": "ENSP00000337761.1",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 515,
"cdna_end": null,
"cdna_length": 3447,
"mane_select": "NM_183235.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000396307.6",
"protein_id": "ENSP00000379601.2",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 527,
"cdna_end": null,
"cdna_length": 3459,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000564609.5",
"protein_id": "ENSP00000455012.1",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 1057,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000569493.5",
"protein_id": "ENSP00000456059.1",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 1013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438970.1",
"protein_id": "NP_001425899.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438972.1",
"protein_id": "NP_001425901.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 779,
"cdna_end": null,
"cdna_length": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438973.1",
"protein_id": "NP_001425902.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 727,
"cdna_end": null,
"cdna_length": 3659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438974.1",
"protein_id": "NP_001425903.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 3550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438975.1",
"protein_id": "NP_001425904.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 604,
"cdna_end": null,
"cdna_length": 3536,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438976.1",
"protein_id": "NP_001425905.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 731,
"cdna_end": null,
"cdna_length": 3663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438977.1",
"protein_id": "NP_001425906.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3327,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438978.1",
"protein_id": "NP_001425907.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 570,
"cdna_end": null,
"cdna_length": 3502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438979.1",
"protein_id": "NP_001425908.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
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"cdna_start": 851,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438980.1",
"protein_id": "NP_001425909.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 394,
"cdna_end": null,
"cdna_length": 3326,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_001438981.1",
"protein_id": "NP_001425910.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
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"cds_start": 275,
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"cdna_start": 1226,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_004580.5",
"protein_id": "NP_004571.2",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
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"cds_length": 666,
"cdna_start": 532,
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"cdna_length": 3464,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_183234.3",
"protein_id": "NP_899057.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
"cds_length": 666,
"cdna_start": 621,
"cdna_end": null,
"cdna_length": 3553,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "NM_183236.3",
"protein_id": "NP_899059.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
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"cdna_start": 481,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "A",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000697642.1",
"protein_id": "ENSP00000513368.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 221,
"cds_start": 275,
"cds_end": null,
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"cdna_start": 388,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "A",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000697643.1",
"protein_id": "ENSP00000513369.1",
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"aa_start": 92,
"aa_end": null,
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"cds_start": 275,
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"cdna_start": 604,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000566877.5",
"protein_id": "ENSP00000454695.1",
"transcript_support_level": 3,
"aa_start": 92,
"aa_end": null,
"aa_length": 184,
"cds_start": 275,
"cds_end": null,
"cds_length": 557,
"cdna_start": 381,
"cdna_end": null,
"cdna_length": 663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAB27A",
"gene_hgnc_id": 9766,
"hgvs_c": "c.275C>T",
"hgvs_p": "p.Ala92Val",
"transcript": "ENST00000567380.5",
"protein_id": "ENSP00000458127.1",
"transcript_support_level": 3,
"aa_start": 92,
"aa_end": null,
"aa_length": 145,
"cds_start": 275,
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}
],
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"dbsnp": "rs137960099",
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"computational_score_selected": 0.802128255367279,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.669,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9229,
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"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.883,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,PP3",
"acmg_by_gene": [
{
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"PP2",
"PP3"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Autoinflammatory syndrome,Griscelli syndrome type 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Griscelli syndrome type 2|Autoinflammatory syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}