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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: 11-76487517-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=76487517&ref=G&alt=A&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": "EMSY",
"hgnc_id": 18071,
"hgvs_c": "c.1154-8698G>A",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001300942.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 8447,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7049,
"cdna_start": null,
"cds_end": null,
"cds_length": 4014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001300942.2",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1154-8698G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000695367.1",
"protein_coding": true,
"protein_id": "NP_001287871.1",
"strand": true,
"transcript": "NM_001300942.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7049,
"cdna_start": null,
"cds_end": null,
"cds_length": 4014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000695367.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1154-8698G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001300942.2",
"protein_coding": true,
"protein_id": "ENSP00000511840.1",
"strand": true,
"transcript": "ENST00000695367.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1337,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": null,
"cds_end": null,
"cds_length": 4014,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524767.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1154-8698G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433205.1",
"strand": true,
"transcript": "ENST00000524767.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1323,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4376,
"cdna_start": null,
"cds_end": null,
"cds_length": 3972,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525038.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1154-8698G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436968.1",
"strand": true,
"transcript": "ENST00000525038.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1323,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4074,
"cdna_start": null,
"cds_end": null,
"cds_length": 3972,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000525919.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1112-8698G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432010.1",
"strand": true,
"transcript": "ENST00000525919.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1322,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6848,
"cdna_start": null,
"cds_end": null,
"cds_length": 3969,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000529032.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1109-8698G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432327.1",
"strand": true,
"transcript": "ENST00000529032.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1231,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3798,
"cdna_start": null,
"cds_end": null,
"cds_length": 3696,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533248.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1151-8698G>A",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433634.1",
"strand": true,
"transcript": "ENST00000533248.5",
"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": 2415,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427574.6",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "n.1399-8698G>A",
"hgvs_p": null,
"intron_rank": 9,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000427574.6",
"transcript_support_level": 1
},
{
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"aa_length": 1339,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4329,
"cdna_start": null,
"cds_end": null,
"cds_length": 4020,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884915.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1112-8698G>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554974.1",
"strand": true,
"transcript": "ENST00000884915.1",
"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,
"cds_length": 4011,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000884905.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1151-8698G>A",
"hgvs_p": null,
"intron_rank": 9,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554964.1",
"strand": true,
"transcript": "ENST00000884905.1",
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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": "ENST00000884904.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1112-8698G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554963.1",
"strand": true,
"transcript": "ENST00000884904.1",
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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": "NM_001300943.2",
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"protein_coding": true,
"protein_id": "NP_001287872.1",
"strand": true,
"transcript": "NM_001300943.2",
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},
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"feature": "NM_001300944.2",
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"protein_id": "NP_001287873.1",
"strand": true,
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},
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"consequences": [
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],
"exon_count": 21,
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"feature": "NM_020193.5",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_064578.2",
"strand": true,
"transcript": "NM_020193.5",
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},
{
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],
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"protein_id": "ENSP00000334130.3",
"strand": true,
"transcript": "ENST00000334736.7",
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},
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],
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"feature": "ENST00000884897.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1112-8698G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554956.1",
"strand": true,
"transcript": "ENST00000884897.1",
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},
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],
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"feature": "ENST00000884907.1",
"gene_hgnc_id": 18071,
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"hgvs_c": "c.1109-8698G>A",
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},
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"feature": "ENST00000884895.1",
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},
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],
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"feature": "ENST00000884900.1",
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},
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"consequences": [
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],
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"feature": "ENST00000884896.1",
"gene_hgnc_id": 18071,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554955.1",
"strand": true,
"transcript": "ENST00000884896.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000884902.1",
"gene_hgnc_id": 18071,
"gene_symbol": "EMSY",
"hgvs_c": "c.1112-8698G>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000554961.1",
"strand": true,
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},
{
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