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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: 15-89306130-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=89306130&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FANCI",
"hgnc_id": 25568,
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001113378.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "POLG",
"hgnc_id": 9179,
"hgvs_c": "c.*46-906C>T",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000635831.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4918,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.36,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8447645902633667,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 3547,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001113378.2",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000310775.12",
"protein_coding": true,
"protein_id": "NP_001106849.1",
"strand": true,
"transcript": "NM_001113378.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4733,
"cdna_start": 3547,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000310775.12",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001113378.2",
"protein_coding": true,
"protein_id": "ENSP00000310842.8",
"strand": true,
"transcript": "ENST00000310775.12",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1372,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 3581,
"cds_end": null,
"cds_length": 4119,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000674831.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502474.1",
"strand": true,
"transcript": "ENST00000674831.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1336,
"aa_ref": "C",
"aa_start": 1166,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4737,
"cdna_start": 3556,
"cds_end": null,
"cds_length": 4011,
"cds_start": 3497,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940814.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3497G>A",
"hgvs_p": "p.Cys1166Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610873.1",
"strand": true,
"transcript": "ENST00000940814.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4744,
"cdna_start": 3558,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001376911.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001363840.1",
"strand": true,
"transcript": "NM_001376911.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4784,
"cdna_start": 3649,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000696719.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512832.1",
"strand": true,
"transcript": "ENST00000696719.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4748,
"cdna_start": 3562,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000886451.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556509.1",
"strand": true,
"transcript": "ENST00000886451.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4801,
"cdna_start": 3615,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000886459.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556518.1",
"strand": true,
"transcript": "ENST00000886459.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4236,
"cdna_start": 3637,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000886461.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556520.1",
"strand": true,
"transcript": "ENST00000886461.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4682,
"cdna_start": 4147,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000886463.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556522.1",
"strand": true,
"transcript": "ENST00000886463.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5712,
"cdna_start": 3566,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000940788.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610847.1",
"strand": true,
"transcript": "ENST00000940788.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4846,
"cdna_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940789.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610848.1",
"strand": true,
"transcript": "ENST00000940789.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4786,
"cdna_start": 3599,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940790.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610849.1",
"strand": true,
"transcript": "ENST00000940790.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4855,
"cdna_start": 3667,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940794.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610853.1",
"strand": true,
"transcript": "ENST00000940794.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4870,
"cdna_start": 3683,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940795.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610854.1",
"strand": true,
"transcript": "ENST00000940795.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4847,
"cdna_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940796.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610855.1",
"strand": true,
"transcript": "ENST00000940796.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 1328,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4841,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940798.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610857.1",
"strand": true,
"transcript": "ENST00000940798.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4873,
"cdna_start": 3686,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940799.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610858.1",
"strand": true,
"transcript": "ENST00000940799.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4846,
"cdna_start": 3660,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940805.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610864.1",
"strand": true,
"transcript": "ENST00000940805.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 1328,
"aa_ref": "C",
"aa_start": 1158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4842,
"cdna_start": 3655,
"cds_end": null,
"cds_length": 3987,
"cds_start": 3473,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000940809.1",
"gene_hgnc_id": 25568,
"gene_symbol": "FANCI",
"hgvs_c": "c.3473G>A",
"hgvs_p": "p.Cys1158Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610868.1",
"strand": true,
"transcript": "ENST00000940809.1",
"transcript_support_level": null
},
{
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