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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: 8-71216733-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=71216733&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EYA1",
"hgnc_id": 3519,
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"inheritance_mode": "AD",
"pathogenic_score": 6,
"score": 6,
"transcript": "NM_001370333.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000285579",
"hgnc_id": null,
"hgvs_c": "n.1132C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000647843.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_score": 6,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.9991,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9191720485687256,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000503.6",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340726.8",
"protein_coding": true,
"protein_id": "NP_000494.2",
"strand": false,
"transcript": "NM_000503.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000340726.8",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000503.6",
"protein_coding": true,
"protein_id": "ENSP00000342626.3",
"strand": false,
"transcript": "ENST00000340726.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3907,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000388742.8",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000373394.4",
"strand": false,
"transcript": "ENST00000388742.8",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 557,
"aa_ref": "R",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1674,
"cds_start": 1214,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000419131.6",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1214G>C",
"hgvs_p": "p.Arg405Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410176.1",
"strand": false,
"transcript": "ENST00000419131.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4076,
"cdna_start": 1709,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001370333.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357262.1",
"strand": false,
"transcript": "NM_001370333.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 621,
"aa_ref": "R",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3938,
"cdna_start": 1751,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000643681.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1406G>C",
"hgvs_p": "p.Arg469Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495390.1",
"strand": false,
"transcript": "ENST00000643681.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4109,
"cdna_start": 1742,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001370334.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357263.1",
"strand": false,
"transcript": "NM_001370334.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4365,
"cdna_start": 1998,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001370335.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357264.1",
"strand": false,
"transcript": "NM_001370335.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3935,
"cdna_start": 1568,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_172058.4",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742055.1",
"strand": false,
"transcript": "NM_172058.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 592,
"aa_ref": "R",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000645793.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496255.1",
"strand": false,
"transcript": "ENST00000645793.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 592,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000647540.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494438.1",
"strand": false,
"transcript": "ENST00000647540.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1319,
"consequences": [
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],
"exon_count": 20,
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"exon_rank_end": null,
"feature": "ENST00000862515.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532574.1",
"strand": false,
"transcript": "ENST00000862515.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1842,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000862516.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1319G>C",
"hgvs_p": "p.Arg440Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532575.1",
"strand": false,
"transcript": "ENST00000862516.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1468,
"cds_end": null,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000388743.6",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1316G>C",
"hgvs_p": "p.Arg439Pro",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000373395.2",
"strand": false,
"transcript": "ENST00000388743.6",
"transcript_support_level": 5
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3348,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1316,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000862517.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1316G>C",
"hgvs_p": "p.Arg439Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532576.1",
"strand": false,
"transcript": "ENST00000862517.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1316,
"consequences": [
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],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000964980.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1316G>C",
"hgvs_p": "p.Arg439Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635039.1",
"strand": false,
"transcript": "ENST00000964980.1",
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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": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000862518.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1304G>C",
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"protein_id": "ENSP00000532577.1",
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"transcript": "ENST00000862518.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000964981.1",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1304G>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000635040.1",
"strand": false,
"transcript": "ENST00000964981.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001288574.2",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1301G>C",
"hgvs_p": "p.Arg434Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001275503.1",
"strand": false,
"transcript": "NM_001288574.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3930,
"cdna_start": 1563,
"cds_end": null,
"cds_length": 1761,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_172059.5",
"gene_hgnc_id": 3519,
"gene_symbol": "EYA1",
"hgvs_c": "c.1301G>C",
"hgvs_p": "p.Arg434Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_742056.2",
"strand": false,
"transcript": "NM_172059.5",
"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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