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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: 16-81870842-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=81870842&ref=A&alt=G&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": "PLCG2",
"hgnc_id": 9066,
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_002661.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 57835,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.86,
"chr": "16",
"clinvar_classification": "Benign",
"clinvar_disease": "Familial cold autoinflammatory syndrome 3,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8600000143051147,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8666,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002661.5",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000564138.6",
"protein_coding": true,
"protein_id": "NP_002652.2",
"strand": true,
"transcript": "NM_002661.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8666,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000564138.6",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002661.5",
"protein_coding": true,
"protein_id": "ENSP00000482457.1",
"strand": true,
"transcript": "ENST00000564138.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2892,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000567980.5",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "n.809-10A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000567980.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1316,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4423,
"cdna_start": null,
"cds_end": null,
"cds_length": 3951,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902427.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572486.1",
"strand": true,
"transcript": "ENST00000902427.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425749.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412678.1",
"strand": true,
"transcript": "NM_001425749.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4486,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425750.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412679.1",
"strand": true,
"transcript": "NM_001425750.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4634,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001425751.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412680.1",
"strand": true,
"transcript": "NM_001425751.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000565054.7",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520638.1",
"strand": true,
"transcript": "ENST00000565054.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4312,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697580.2",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520637.1",
"strand": true,
"transcript": "ENST00000697580.2",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 1265,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4685,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902425.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572484.1",
"strand": true,
"transcript": "ENST00000902425.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4412,
"cdna_start": null,
"cds_end": null,
"cds_length": 3798,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000902431.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572490.1",
"strand": true,
"transcript": "ENST00000902431.1",
"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,
"cds_end": null,
"cds_length": 3792,
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"consequences": [
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],
"exon_count": 33,
"exon_rank": null,
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"feature": "ENST00000902429.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572488.1",
"strand": true,
"transcript": "ENST00000902429.1",
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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": "ENST00000902430.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000572489.1",
"strand": true,
"transcript": "ENST00000902430.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 3762,
"cds_start": null,
"consequences": [
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],
"exon_count": 33,
"exon_rank": null,
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"feature": "ENST00000902428.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.529-10A>G",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572487.1",
"strand": true,
"transcript": "ENST00000902428.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "ENST00000902426.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000572485.1",
"strand": true,
"transcript": "ENST00000902426.1",
"transcript_support_level": null
},
{
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"cds_length": 3681,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 31,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697564.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.565-10A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000513340.1",
"strand": true,
"transcript": "ENST00000697564.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4149,
"cdna_start": null,
"cds_end": null,
"cds_length": 3654,
"cds_start": null,
"consequences": [
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],
"exon_count": 32,
"exon_rank": null,
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"feature": "ENST00000947323.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.421-10A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000617382.1",
"strand": true,
"transcript": "ENST00000947323.1",
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},
{
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"canonical": false,
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"consequences": [
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],
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"feature": "ENST00000697583.1",
"gene_hgnc_id": 9066,
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"protein_coding": true,
"protein_id": "ENSP00000513349.1",
"strand": true,
"transcript": "ENST00000697583.1",
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},
{
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"consequences": [
"intron_variant"
],
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"feature": "ENST00000697584.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.364-10A>G",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000513350.1",
"strand": true,
"transcript": "ENST00000697584.1",
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},
{
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"cds_length": 3597,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697585.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.364-10A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513351.1",
"strand": true,
"transcript": "ENST00000697585.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": null,
"cds_end": null,
"cds_length": 3597,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000697586.1",
"gene_hgnc_id": 9066,
"gene_symbol": "PLCG2",
"hgvs_c": "c.364-10A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000513352.1",
"strand": true,
"transcript": "ENST00000697586.1",
"transcript_support_level": null
},
{
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