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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: 11-134153833-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=134153833&ref=A&alt=C&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": "NCAPD3",
"hgnc_id": 28952,
"hgvs_c": "c.4253-470T>G",
"hgvs_p": null,
"inheritance_mode": "Unknown,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015261.3",
"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": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "11",
"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": 1498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7369,
"cdna_start": null,
"cds_end": null,
"cds_length": 4497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015261.3",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4253-470T>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000534548.7",
"protein_coding": true,
"protein_id": "NP_056076.1",
"strand": false,
"transcript": "NM_015261.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7369,
"cdna_start": null,
"cds_end": null,
"cds_length": 4497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000534548.7",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4253-470T>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015261.3",
"protein_coding": true,
"protein_id": "ENSP00000433681.3",
"strand": false,
"transcript": "ENST00000534548.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5416,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525964.7",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "n.*1895-470T>G",
"hgvs_p": null,
"intron_rank": 33,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000431612.2",
"strand": false,
"transcript": "ENST00000525964.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5297,
"cdna_start": null,
"cds_end": null,
"cds_length": 4497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685324.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4253-470T>G",
"hgvs_p": null,
"intron_rank": 33,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508707.1",
"strand": false,
"transcript": "ENST00000685324.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1498,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6055,
"cdna_start": null,
"cds_end": null,
"cds_length": 4497,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688672.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4253-470T>G",
"hgvs_p": null,
"intron_rank": 33,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510391.1",
"strand": false,
"transcript": "ENST00000688672.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1497,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5244,
"cdna_start": null,
"cds_end": null,
"cds_length": 4494,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957781.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4250-470T>G",
"hgvs_p": null,
"intron_rank": 33,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627840.1",
"strand": false,
"transcript": "ENST00000957781.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1493,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5603,
"cdna_start": null,
"cds_end": null,
"cds_length": 4482,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000957782.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4238-470T>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627841.1",
"strand": false,
"transcript": "ENST00000957782.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1484,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7327,
"cdna_start": null,
"cds_end": null,
"cds_length": 4455,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372068.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4253-470T>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358997.1",
"strand": false,
"transcript": "NM_001372068.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1484,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5562,
"cdna_start": null,
"cds_end": null,
"cds_length": 4455,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000688263.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4253-470T>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510008.1",
"strand": false,
"transcript": "ENST00000688263.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1476,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4943,
"cdna_start": null,
"cds_end": null,
"cds_length": 4431,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912041.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4187-470T>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582100.1",
"strand": false,
"transcript": "ENST00000912041.1",
"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": 4839,
"cdna_start": null,
"cds_end": null,
"cds_length": 4401,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372065.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4253-470T>G",
"hgvs_p": null,
"intron_rank": 32,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358994.1",
"strand": false,
"transcript": "NM_001372065.1",
"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": 5215,
"cdna_start": null,
"cds_end": null,
"cds_length": 4326,
"cds_start": null,
"consequences": [
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],
"exon_count": 36,
"exon_rank": null,
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"feature": "ENST00000957779.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.4082-470T>G",
"hgvs_p": null,
"intron_rank": 33,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627838.1",
"strand": false,
"transcript": "ENST00000957779.1",
"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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"consequences": [
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],
"exon_count": 34,
"exon_rank": null,
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"feature": "ENST00000957780.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.3935-470T>G",
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"intron_rank": 31,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627839.1",
"strand": false,
"transcript": "ENST00000957780.1",
"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": 4670,
"cdna_start": null,
"cds_end": null,
"cds_length": 4149,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000912040.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.3905-470T>G",
"hgvs_p": null,
"intron_rank": 30,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582099.1",
"strand": false,
"transcript": "ENST00000912040.1",
"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": 7206,
"cdna_start": null,
"cds_end": null,
"cds_length": 4083,
"cds_start": null,
"consequences": [
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],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372069.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.3839-470T>G",
"hgvs_p": null,
"intron_rank": 31,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358998.1",
"strand": false,
"transcript": "NM_001372069.1",
"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": 7868,
"cdna_start": null,
"cds_end": null,
"cds_length": 4083,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001372070.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.3839-470T>G",
"hgvs_p": null,
"intron_rank": 34,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001358999.1",
"strand": false,
"transcript": "NM_001372070.1",
"transcript_support_level": null
},
{
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"aa_length": 182,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1568,
"cdna_start": null,
"cds_end": null,
"cds_length": 549,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000691025.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.218-38T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509988.1",
"strand": false,
"transcript": "ENST00000691025.1",
"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,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000686368.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.218-470T>G",
"hgvs_p": null,
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"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509165.1",
"strand": false,
"transcript": "ENST00000686368.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000526787.3",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "c.218-470T>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509095.1",
"strand": false,
"transcript": "ENST00000526787.3",
"transcript_support_level": 3
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8128,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 35,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000525432.2",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "n.7458T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000525432.2",
"transcript_support_level": 3
},
{
"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": 10474,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000692494.1",
"gene_hgnc_id": 28952,
"gene_symbol": "NCAPD3",
"hgvs_c": "n.7479T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000692494.1",
"transcript_support_level": null
},
{
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