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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: 20-63942653-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=63942653&ref=A&alt=G&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": "UCKL1",
"hgnc_id": 15938,
"hgvs_c": "c.907-164T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001353475.2",
"verdict": "Benign"
},
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MIR647",
"hgnc_id": 32903,
"hgvs_c": "n.74T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -12,
"transcript": "NR_030377.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 97006,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017859.4",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.923+1000T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354216.11",
"protein_coding": true,
"protein_id": "NP_060329.2",
"strand": false,
"transcript": "NM_017859.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 548,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": null,
"cds_end": null,
"cds_length": 1647,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000354216.11",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.923+1000T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017859.4",
"protein_coding": true,
"protein_id": "ENSP00000346155.6",
"strand": false,
"transcript": "ENST00000354216.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 558,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1862,
"cdna_start": null,
"cds_end": null,
"cds_length": 1677,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883271.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.931-161T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553330.1",
"strand": false,
"transcript": "ENST00000883271.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969434.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.931-164T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639493.1",
"strand": false,
"transcript": "ENST00000969434.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 557,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": null,
"cds_end": null,
"cds_length": 1674,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969439.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.928-161T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639498.1",
"strand": false,
"transcript": "ENST00000969439.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1869,
"cdna_start": null,
"cds_end": null,
"cds_length": 1671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969436.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.947+1000T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639495.1",
"strand": false,
"transcript": "ENST00000969436.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": null,
"cds_end": null,
"cds_length": 1671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969437.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.928-164T>C",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639496.1",
"strand": false,
"transcript": "ENST00000969437.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 555,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": null,
"cds_end": null,
"cds_length": 1668,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969435.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.944+1000T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639494.1",
"strand": false,
"transcript": "ENST00000969435.1",
"transcript_support_level": null
},
{
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"aa_length": 550,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": null,
"cds_end": null,
"cds_length": 1653,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883267.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.907-161T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553326.1",
"strand": false,
"transcript": "ENST00000883267.1",
"transcript_support_level": null
},
{
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"aa_length": 549,
"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1841,
"cdna_start": null,
"cds_end": null,
"cds_length": 1650,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353475.2",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.907-164T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001340404.1",
"strand": false,
"transcript": "NM_001353475.2",
"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": 1848,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000883268.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.904-161T>C",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000553327.1",
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"transcript": "ENST00000883268.1",
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},
{
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000883269.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.907-164T>C",
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"mane_plus": null,
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"protein_coding": true,
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"strand": false,
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "NM_001353476.2",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.904-164T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001340405.1",
"strand": false,
"transcript": "NM_001353476.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000883270.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.904-164T>C",
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"intron_rank": 7,
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"protein_coding": true,
"protein_id": "ENSP00000553329.1",
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"transcript": "ENST00000883270.1",
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},
{
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"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "NM_001353477.2",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.920+1000T>C",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001340406.1",
"strand": false,
"transcript": "NM_001353477.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_start": null,
"consequences": [
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],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000969433.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.920+1000T>C",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639492.1",
"strand": false,
"transcript": "ENST00000969433.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000969438.1",
"gene_hgnc_id": 15938,
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"hgvs_c": "c.907-161T>C",
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"protein_id": "ENSP00000639497.1",
"strand": false,
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},
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],
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"feature": "ENST00000969443.1",
"gene_hgnc_id": 15938,
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"protein_id": "ENSP00000639502.1",
"strand": false,
"transcript": "ENST00000969443.1",
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},
{
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000969440.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000639499.1",
"strand": false,
"transcript": "ENST00000969440.1",
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},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969441.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.886-164T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639500.1",
"strand": false,
"transcript": "ENST00000969441.1",
"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": 1797,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969448.1",
"gene_hgnc_id": 15938,
"gene_symbol": "UCKL1",
"hgvs_c": "c.886-164T>C",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
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