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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: 13-46084577-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=46084577&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CPB2",
"hgnc_id": 2300,
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001872.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "CPB2-AS1",
"hgnc_id": 39898,
"hgvs_c": "n.166-10276A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000606243.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "13",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 423,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": null,
"cds_end": null,
"cds_length": 1272,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001872.5",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000181383.10",
"protein_coding": true,
"protein_id": "NP_001863.3",
"strand": false,
"transcript": "NM_001872.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 423,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": null,
"cds_end": null,
"cds_length": 1272,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000181383.10",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001872.5",
"protein_coding": true,
"protein_id": "ENSP00000181383.4",
"strand": false,
"transcript": "ENST00000181383.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 457,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1793,
"cdna_start": null,
"cds_end": null,
"cds_length": 1374,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882332.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552391.1",
"strand": false,
"transcript": "ENST00000882332.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 439,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": null,
"cds_end": null,
"cds_length": 1320,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882315.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552374.1",
"strand": false,
"transcript": "ENST00000882315.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 437,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1966,
"cdna_start": null,
"cds_end": null,
"cds_length": 1314,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882319.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552378.1",
"strand": false,
"transcript": "ENST00000882319.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 431,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": null,
"cds_end": null,
"cds_length": 1296,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882325.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552384.1",
"strand": false,
"transcript": "ENST00000882325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 424,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": null,
"cds_end": null,
"cds_length": 1275,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882322.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552381.1",
"strand": false,
"transcript": "ENST00000882322.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882327.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552386.1",
"strand": false,
"transcript": "ENST00000882327.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 421,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": null,
"cds_end": null,
"cds_length": 1266,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882328.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552387.1",
"strand": false,
"transcript": "ENST00000882328.1",
"transcript_support_level": null
},
{
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"aa_length": 418,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": null,
"cds_end": null,
"cds_length": 1257,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "ENST00000882320.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-249T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552379.1",
"strand": false,
"transcript": "ENST00000882320.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": null,
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"cds_length": 1209,
"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000882326.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552385.1",
"strand": false,
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},
{
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"canonical": false,
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"consequences": [
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],
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"feature": "ENST00000882333.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
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"protein_coding": true,
"protein_id": "ENSP00000552392.1",
"strand": false,
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},
{
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],
"exon_count": 10,
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"feature": "ENST00000882317.1",
"gene_hgnc_id": 2300,
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"hgvs_c": "c.151-234T>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552376.1",
"strand": false,
"transcript": "ENST00000882317.1",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "NM_001278541.2",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
"transcript": "NM_001278541.2",
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},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000439329.5",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000400714.3",
"strand": false,
"transcript": "ENST00000439329.5",
"transcript_support_level": 5
},
{
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000882334.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552393.1",
"strand": false,
"transcript": "ENST00000882334.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000882331.1",
"gene_hgnc_id": 2300,
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"protein_coding": true,
"protein_id": "ENSP00000552390.1",
"strand": false,
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},
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],
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"feature": "ENST00000882323.1",
"gene_hgnc_id": 2300,
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"protein_coding": true,
"protein_id": "ENSP00000552382.1",
"strand": false,
"transcript": "ENST00000882323.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000882321.1",
"gene_hgnc_id": 2300,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000552380.1",
"strand": false,
"transcript": "ENST00000882321.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
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"cds_length": 1059,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
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"feature": "ENST00000882324.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.151-234T>G",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552383.1",
"strand": false,
"transcript": "ENST00000882324.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 1038,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000882318.1",
"gene_hgnc_id": 2300,
"gene_symbol": "CPB2",
"hgvs_c": "c.150+3168T>G",
"hgvs_p": null,
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