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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: 11-61359386-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61359386&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": "CYB561A3",
"hgnc_id": 23014,
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001300763.2",
"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": -0.83,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8299999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153611.6",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000294072.9",
"protein_coding": true,
"protein_id": "NP_705839.3",
"strand": false,
"transcript": "NM_153611.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2584,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000294072.9",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153611.6",
"protein_coding": true,
"protein_id": "ENSP00000294072.4",
"strand": false,
"transcript": "ENST00000294072.9",
"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": 1494,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000540755.5",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "n.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445561.1",
"strand": false,
"transcript": "ENST00000540755.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": null,
"cds_end": null,
"cds_length": 547,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000537364.5",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-1669G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438725.1",
"strand": false,
"transcript": "ENST00000537364.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 181,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4094,
"cdna_start": null,
"cds_end": null,
"cds_length": 547,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000537364.5",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-1669G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438725.1",
"strand": false,
"transcript": "ENST00000537364.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1865,
"cdna_start": null,
"cds_end": null,
"cds_length": 792,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001300763.2",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287692.1",
"strand": false,
"transcript": "NM_001300763.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 263,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": null,
"cds_end": null,
"cds_length": 792,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000447532.6",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000389745.2",
"strand": false,
"transcript": "ENST00000447532.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 259,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3211,
"cdna_start": null,
"cds_end": null,
"cds_length": 780,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001161454.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-229-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001154926.1",
"strand": false,
"transcript": "NM_001161454.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 259,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3205,
"cdna_start": null,
"cds_end": null,
"cds_length": 780,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000426130.6",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-229-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000398979.2",
"strand": false,
"transcript": "ENST00000426130.6",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2940,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884217.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-16+2347G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554276.1",
"strand": false,
"transcript": "ENST00000884217.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884218.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-62-1607G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554277.1",
"strand": false,
"transcript": "ENST00000884218.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 242,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884219.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554278.1",
"strand": false,
"transcript": "ENST00000884219.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000884220.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554279.1",
"strand": false,
"transcript": "ENST00000884220.1",
"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": 2680,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884221.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554280.1",
"strand": false,
"transcript": "ENST00000884221.1",
"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": [
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],
"exon_count": 7,
"exon_rank": null,
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"feature": "ENST00000884222.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-108-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554281.1",
"strand": false,
"transcript": "ENST00000884222.1",
"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": 2667,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884223.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554282.1",
"strand": false,
"transcript": "ENST00000884223.1",
"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": 2951,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945361.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615420.1",
"strand": false,
"transcript": "ENST00000945361.1",
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},
{
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"canonical": false,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
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"feature": "ENST00000945362.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
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"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615421.1",
"strand": false,
"transcript": "ENST00000945362.1",
"transcript_support_level": null
},
{
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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": 6,
"exon_rank": null,
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"feature": "ENST00000945363.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-16+2354G>T",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615422.1",
"strand": false,
"transcript": "ENST00000945363.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2847,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945364.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615423.1",
"strand": false,
"transcript": "ENST00000945364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3126,
"cdna_start": null,
"cds_end": null,
"cds_length": 729,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945365.1",
"gene_hgnc_id": 23014,
"gene_symbol": "CYB561A3",
"hgvs_c": "c.-111-1558G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615424.1",
"strand": false,
"transcript": "ENST00000945365.1",
"transcript_support_level": null
},
{
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