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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: 11-46729851-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=46729851&ref=T&alt=A&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": "F2",
"hgnc_id": 3535,
"hgvs_c": "c.1654+290T>A",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000506.5",
"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": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.83,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000506.5",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1654+290T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311907.10",
"protein_coding": true,
"protein_id": "NP_000497.1",
"strand": true,
"transcript": "NM_000506.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1990,
"cdna_start": null,
"cds_end": null,
"cds_length": 1869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000311907.10",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1654+290T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000506.5",
"protein_coding": true,
"protein_id": "ENSP00000308541.5",
"strand": true,
"transcript": "ENST00000311907.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 654,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": null,
"cds_end": null,
"cds_length": 1965,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862106.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1750+290T>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532165.1",
"strand": true,
"transcript": "ENST00000862106.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 638,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": null,
"cds_end": null,
"cds_length": 1917,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862118.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1702+290T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532177.1",
"strand": true,
"transcript": "ENST00000862118.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 637,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2080,
"cdna_start": null,
"cds_end": null,
"cds_length": 1914,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862102.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1699+290T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532161.1",
"strand": true,
"transcript": "ENST00000862102.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 635,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": null,
"cds_end": null,
"cds_length": 1908,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862104.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1693+290T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532163.1",
"strand": true,
"transcript": "ENST00000862104.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 631,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2022,
"cdna_start": null,
"cds_end": null,
"cds_length": 1896,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862111.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1681+290T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532170.1",
"strand": true,
"transcript": "ENST00000862111.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 629,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2030,
"cdna_start": null,
"cds_end": null,
"cds_length": 1890,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000862105.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1675+290T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532164.1",
"strand": true,
"transcript": "ENST00000862105.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 621,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2319,
"cdna_start": null,
"cds_end": null,
"cds_length": 1866,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000862096.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1651+290T>A",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000532155.1",
"strand": true,
"transcript": "ENST00000862096.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000862107.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1642+290T>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532166.1",
"strand": true,
"transcript": "ENST00000862107.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000862112.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1636+290T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532171.1",
"strand": true,
"transcript": "ENST00000862112.1",
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},
{
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"cds_end": null,
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],
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"feature": "ENST00000862123.1",
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},
{
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],
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"feature": "ENST00000862109.1",
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},
{
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],
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"feature": "ENST00000862103.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1612+290T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532162.1",
"strand": true,
"transcript": "ENST00000862103.1",
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},
{
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],
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"feature": "ENST00000862093.1",
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"protein_coding": true,
"protein_id": "ENSP00000532152.1",
"strand": true,
"transcript": "ENST00000862093.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
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"feature": "ENST00000862117.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1603+290T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532176.1",
"strand": true,
"transcript": "ENST00000862117.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000862095.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1597+290T>A",
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"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532154.1",
"strand": true,
"transcript": "ENST00000862095.1",
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},
{
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],
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"feature": "ENST00000862114.1",
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},
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],
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"feature": "ENST00000862101.1",
"gene_hgnc_id": 3535,
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},
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],
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"feature": "ENST00000862100.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532159.1",
"strand": true,
"transcript": "ENST00000862100.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
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"feature": "ENST00000862098.1",
"gene_hgnc_id": 3535,
"gene_symbol": "F2",
"hgvs_c": "c.1564+290T>A",
"hgvs_p": null,
"intron_rank": 12,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000532157.1",
"strand": true,
"transcript": "ENST00000862098.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
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