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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: 8-73027388-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=73027388&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TERF1",
"hgnc_id": 11728,
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001413364.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 37510,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 439,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": null,
"cds_end": null,
"cds_length": 1320,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017489.3",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000276603.10",
"protein_coding": true,
"protein_id": "NP_059523.2",
"strand": true,
"transcript": "NM_017489.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 439,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": null,
"cds_end": null,
"cds_length": 1320,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000276603.10",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017489.3",
"protein_coding": true,
"protein_id": "ENSP00000276603.5",
"strand": true,
"transcript": "ENST00000276603.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 419,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3268,
"cdna_start": null,
"cds_end": null,
"cds_length": 1260,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000276602.10",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000276602.6",
"strand": true,
"transcript": "ENST00000276602.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3419,
"cdna_start": null,
"cds_end": null,
"cds_length": 1410,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413364.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400293.1",
"strand": true,
"transcript": "NM_001413364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2802,
"cdna_start": null,
"cds_end": null,
"cds_length": 1410,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000899325.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569384.1",
"strand": true,
"transcript": "ENST00000899325.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3359,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410928.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397857.1",
"strand": true,
"transcript": "NM_001410928.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2715,
"cdna_start": null,
"cds_end": null,
"cds_length": 1350,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678860.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503453.1",
"strand": true,
"transcript": "ENST00000678860.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 437,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": null,
"cds_end": null,
"cds_length": 1314,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912757.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582816.1",
"strand": true,
"transcript": "ENST00000912757.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 419,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3269,
"cdna_start": null,
"cds_end": null,
"cds_length": 1260,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_003218.4",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003209.2",
"strand": true,
"transcript": "NM_003218.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 407,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3233,
"cdna_start": null,
"cds_end": null,
"cds_length": 1224,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413370.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.791+336C>T",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400299.1",
"strand": true,
"transcript": "NM_001413370.1",
"transcript_support_level": null
},
{
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"aa_length": 391,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3404,
"cdna_start": null,
"cds_end": null,
"cds_length": 1176,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413371.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400300.1",
"strand": true,
"transcript": "NM_001413371.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2764,
"cdna_start": null,
"cds_end": null,
"cds_length": 1176,
"cds_start": null,
"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000679115.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504760.1",
"strand": true,
"transcript": "ENST00000679115.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": null,
"cds_end": null,
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],
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"feature": "ENST00000678518.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000504470.1",
"strand": true,
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},
{
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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": 1164,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413372.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.791+336C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400301.1",
"strand": true,
"transcript": "NM_001413372.1",
"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": [
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],
"exon_count": 10,
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"feature": "NM_001413373.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001400302.1",
"strand": true,
"transcript": "NM_001413373.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2704,
"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000517390.2",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000430121.2",
"strand": true,
"transcript": "ENST00000517390.2",
"transcript_support_level": 3
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2754,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912758.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.737+336C>T",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000582817.1",
"strand": true,
"transcript": "ENST00000912758.1",
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},
{
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "NM_001413365.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.575+336C>T",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "NM_001413365.1",
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},
{
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],
"exon_count": 9,
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"exon_rank_end": null,
"feature": "NM_001413374.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.887+336C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001400303.1",
"strand": true,
"transcript": "NM_001413374.1",
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},
{
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"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
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"feature": "NM_001413366.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.575+336C>T",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400295.1",
"strand": true,
"transcript": "NM_001413366.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3405,
"cdna_start": null,
"cds_end": null,
"cds_length": 1008,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001413367.1",
"gene_hgnc_id": 11728,
"gene_symbol": "TERF1",
"hgvs_c": "c.575+336C>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001400296.1",
"strand": true,
"transcript": "NM_001413367.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": null,
"cds_end": null,
"cds_length": 951,
"cds_start": null,
"consequences": [
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