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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: 3-53758384-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53758384&ref=C&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": "CACNA1D",
"hgnc_id": 1391,
"hgvs_c": "c.3847-3614C>A",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_000720.4",
"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": -0.87,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9429,
"cdna_start": null,
"cds_end": null,
"cds_length": 6546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000720.4",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3847-3614C>A",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": "ENST00000288139.11",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000711.1",
"strand": true,
"transcript": "NM_000720.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9429,
"cdna_start": null,
"cds_end": null,
"cds_length": 6546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000288139.11",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3847-3614C>A",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": "NM_000720.4",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000288139.3",
"strand": true,
"transcript": "ENST00000288139.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2161,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9369,
"cdna_start": null,
"cds_end": null,
"cds_length": 6486,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128840.3",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3787-3614C>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000350061.11",
"protein_coding": true,
"protein_id": "NP_001122312.1",
"strand": true,
"transcript": "NM_001128840.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2161,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9369,
"cdna_start": null,
"cds_end": null,
"cds_length": 6486,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 48,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000350061.11",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3787-3614C>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001128840.3",
"protein_coding": true,
"protein_id": "ENSP00000288133.5",
"strand": true,
"transcript": "ENST00000350061.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7204,
"cdna_start": null,
"cds_end": null,
"cds_length": 6546,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000481478.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3847-4167C>A",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418014.2",
"strand": true,
"transcript": "ENST00000481478.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2137,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7211,
"cdna_start": null,
"cds_end": null,
"cds_length": 6414,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000422281.7",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3787-3614C>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409174.2",
"strand": true,
"transcript": "ENST00000422281.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2185,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7832,
"cdna_start": null,
"cds_end": null,
"cds_length": 6558,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000954170.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3847-3614C>A",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624229.1",
"strand": true,
"transcript": "ENST00000954170.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2170,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6856,
"cdna_start": null,
"cds_end": null,
"cds_length": 6513,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000637424.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3859-3614C>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489769.1",
"strand": true,
"transcript": "ENST00000637424.1",
"transcript_support_level": 5
},
{
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"aa_end": null,
"aa_length": 2146,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6441,
"cdna_start": null,
"cds_end": null,
"cds_length": 6441,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 47,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000636570.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3787-3614C>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490183.1",
"strand": true,
"transcript": "ENST00000636570.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9297,
"cdna_start": null,
"cds_end": null,
"cds_length": 6414,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001128839.3",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3787-3614C>A",
"hgvs_p": null,
"intron_rank": 29,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001122311.1",
"strand": true,
"transcript": "NM_001128839.3",
"transcript_support_level": null
},
{
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"cdna_end": null,
"cdna_length": 6868,
"cdna_start": null,
"cds_end": null,
"cds_length": 4944,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
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"feature": "ENST00000636938.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3787-3614C>A",
"hgvs_p": null,
"intron_rank": 29,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490039.1",
"strand": true,
"transcript": "ENST00000636938.1",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000640483.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3820-4167C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000491921.1",
"strand": true,
"transcript": "ENST00000640483.1",
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},
{
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],
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"feature": "ENST00000636627.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000490889.2",
"strand": true,
"transcript": "ENST00000636627.2",
"transcript_support_level": 5
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000645528.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.973-4167C>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000494413.2",
"strand": true,
"transcript": "ENST00000645528.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000638120.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.361-3614C>A",
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"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000489790.1",
"strand": true,
"transcript": "ENST00000638120.1",
"transcript_support_level": 2
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 849,
"cds_start": null,
"consequences": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000636723.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.666+4702C>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490908.1",
"strand": true,
"transcript": "ENST00000636723.1",
"transcript_support_level": 5
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 669,
"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": null,
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"feature": "ENST00000638129.1",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.366+4702C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000490523.1",
"strand": true,
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},
{
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],
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"feature": "XM_011534094.3",
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"hgvs_c": "c.3958-3614C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011532396.1",
"strand": true,
"transcript": "XM_011534094.3",
"transcript_support_level": null
},
{
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],
"exon_count": 50,
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"feature": "XM_017007137.2",
"gene_hgnc_id": 1391,
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"hgvs_c": "c.3958-3614C>A",
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"protein_coding": true,
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"strand": true,
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},
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 50,
"exon_rank": null,
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"feature": "XM_017007138.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3955-3614C>A",
"hgvs_p": null,
"intron_rank": 30,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862627.1",
"strand": true,
"transcript": "XM_017007138.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 9056,
"cdna_start": null,
"cds_end": null,
"cds_length": 6714,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 49,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017007139.2",
"gene_hgnc_id": 1391,
"gene_symbol": "CACNA1D",
"hgvs_c": "c.3958-3614C>A",
"hgvs_p": null,
"intron_rank": 30,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016862628.1",
"strand": true,
"transcript": "XM_017007139.2",
"transcript_support_level": null
},
{
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