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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: 7-140749271-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140749271&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "BRAF",
"hgnc_id": 1097,
"hgvs_c": "c.2112+16G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001374258.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 333,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "RASopathy,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 807,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9807,
"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374258.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.2112+16G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": "ENST00000644969.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361187.1",
"strand": false,
"transcript": "NM_001374258.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 807,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9807,
"cdna_start": null,
"cds_end": null,
"cds_length": 2424,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000644969.2",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.2112+16G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": "NM_001374258.1",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496776.1",
"strand": false,
"transcript": "ENST00000644969.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6459,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004333.6",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1992+16G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000646891.2",
"protein_coding": true,
"protein_id": "NP_004324.2",
"strand": false,
"transcript": "NM_004333.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 766,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6459,
"cdna_start": null,
"cds_end": null,
"cds_length": 2301,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000646891.2",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1992+16G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004333.6",
"protein_coding": true,
"protein_id": "ENSP00000493543.1",
"strand": false,
"transcript": "ENST00000646891.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000288602.11",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.2112+16G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000288602.7",
"strand": false,
"transcript": "ENST00000288602.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 809,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2552,
"cdna_start": null,
"cds_end": null,
"cds_length": 2430,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000944245.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.2121+16G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614304.1",
"strand": false,
"transcript": "ENST00000944245.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 806,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6579,
"cdna_start": null,
"cds_end": null,
"cds_length": 2421,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001374244.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.2112+16G>A",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361173.1",
"strand": false,
"transcript": "NM_001374244.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 770,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9696,
"cdna_start": null,
"cds_end": null,
"cds_length": 2313,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378467.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.2001+16G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365396.1",
"strand": false,
"transcript": "NM_001378467.1",
"transcript_support_level": null
},
{
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"aa_length": 769,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3168,
"cdna_start": null,
"cds_end": null,
"cds_length": 2310,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912600.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.2001+16G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582659.1",
"strand": false,
"transcript": "ENST00000912600.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9687,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354609.2",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1992+16G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001341538.1",
"strand": false,
"transcript": "NM_001354609.2",
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},
{
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"consequences": [
"intron_variant"
],
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"feature": "ENST00000496384.7",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1992+16G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000419060.2",
"strand": false,
"transcript": "ENST00000496384.7",
"transcript_support_level": 5
},
{
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"consequences": [
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],
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"feature": "NM_001378468.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365397.1",
"strand": false,
"transcript": "NM_001378468.1",
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},
{
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],
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"feature": "NM_001378469.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365398.1",
"strand": false,
"transcript": "NM_001378469.1",
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},
{
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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": null,
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"feature": "ENST00000912601.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1926+16G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000582660.1",
"strand": false,
"transcript": "ENST00000912601.1",
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},
{
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],
"exon_count": 18,
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"feature": "NM_001378470.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1890+16G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365399.1",
"strand": false,
"transcript": "NM_001378470.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 17,
"exon_rank": null,
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"feature": "ENST00000867091.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1890+16G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000537150.1",
"strand": false,
"transcript": "ENST00000867091.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378471.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1881+16G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001365400.1",
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},
{
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],
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"feature": "NM_001378472.1",
"gene_hgnc_id": 1097,
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"protein_coding": true,
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"strand": false,
"transcript": "NM_001378472.1",
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},
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"consequences": [
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],
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"feature": "NM_001378473.1",
"gene_hgnc_id": 1097,
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"hgvs_c": "c.1836+16G>A",
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"mane_plus": null,
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"protein_id": "NP_001365402.1",
"strand": false,
"transcript": "NM_001378473.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378474.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1992+16G>A",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365403.1",
"strand": false,
"transcript": "NM_001378474.1",
"transcript_support_level": null
},
{
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"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9423,
"cdna_start": null,
"cds_end": null,
"cds_length": 2040,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001378475.1",
"gene_hgnc_id": 1097,
"gene_symbol": "BRAF",
"hgvs_c": "c.1728+16G>A",
"hgvs_p": null,
"intron_rank": 15,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365404.1",
"strand": false,
"transcript": "NM_001378475.1",
"transcript_support_level": null
},
{
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