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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: 6-576834-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=576834&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXOC2",
"hgnc_id": 24968,
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_018303.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.197,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.09,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7920063734054565,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4456,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_018303.6",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000230449.9",
"protein_coding": true,
"protein_id": "NP_060773.3",
"strand": false,
"transcript": "NM_018303.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4456,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000230449.9",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018303.6",
"protein_coding": true,
"protein_id": "ENSP00000230449.4",
"strand": false,
"transcript": "ENST00000230449.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 958,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4532,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 2877,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930291.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600350.1",
"strand": false,
"transcript": "ENST00000930291.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 954,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1331,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930294.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1331G>C",
"hgvs_p": "p.Arg444Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600353.1",
"strand": false,
"transcript": "ENST00000930294.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 932,
"aa_ref": "R",
"aa_start": 422,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3509,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1265,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000949692.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1265G>C",
"hgvs_p": "p.Arg422Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619751.1",
"strand": false,
"transcript": "ENST00000949692.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4666,
"cdna_start": 1601,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000870874.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540933.1",
"strand": false,
"transcript": "ENST00000870874.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4551,
"cdna_start": 1481,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000870875.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540934.1",
"strand": false,
"transcript": "ENST00000870875.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4728,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000870876.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540935.1",
"strand": false,
"transcript": "ENST00000870876.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3594,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000870878.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540937.1",
"strand": false,
"transcript": "ENST00000870878.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930287.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600346.1",
"strand": false,
"transcript": "ENST00000930287.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4718,
"cdna_start": 1647,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000930288.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600347.1",
"strand": false,
"transcript": "ENST00000930288.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 924,
"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5135,
"cdna_start": 2063,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930292.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600351.1",
"strand": false,
"transcript": "ENST00000930292.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1810,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000930293.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600352.1",
"strand": false,
"transcript": "ENST00000930293.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 924,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4390,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 2775,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930296.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600355.1",
"strand": false,
"transcript": "ENST00000930296.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 923,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3486,
"cdna_start": 1394,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1238,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000870879.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1238G>C",
"hgvs_p": "p.Arg413Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540938.1",
"strand": false,
"transcript": "ENST00000870879.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3534,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1241,
"consequences": [
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],
"exon_count": 29,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000930295.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600354.1",
"strand": false,
"transcript": "ENST00000930295.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4383,
"cdna_start": 1373,
"cds_end": null,
"cds_length": 2736,
"cds_start": 1241,
"consequences": [
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],
"exon_count": 28,
"exon_rank": 12,
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"feature": "ENST00000949691.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000619750.1",
"strand": false,
"transcript": "ENST00000949691.1",
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},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 28,
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"exon_rank_end": null,
"feature": "ENST00000949687.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1238G>C",
"hgvs_p": "p.Arg413Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000619746.1",
"strand": false,
"transcript": "ENST00000949687.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000949689.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1127G>C",
"hgvs_p": "p.Arg376Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619748.1",
"strand": false,
"transcript": "ENST00000949689.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
"aa_start": 414,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4314,
"cdna_start": 1375,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1241,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000930290.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1241G>C",
"hgvs_p": "p.Arg414Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600349.1",
"strand": false,
"transcript": "ENST00000930290.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 865,
"aa_ref": "R",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4268,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 2598,
"cds_start": 1064,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000949688.1",
"gene_hgnc_id": 24968,
"gene_symbol": "EXOC2",
"hgvs_c": "c.1064G>C",
"hgvs_p": "p.Arg355Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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