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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: 11-44130027-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=44130027&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EXT2",
"hgnc_id": 3513,
"hgvs_c": "c.1179-18T>A",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000401.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 495730,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "11",
"clinvar_classification": "Benign",
"clinvar_disease": " multiple, type 1, type 2,Exostoses,Seizures-scoliosis-macrocephaly syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:8",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10037,
"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_207122.2",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000533608.7",
"protein_coding": true,
"protein_id": "NP_997005.1",
"strand": true,
"transcript": "NM_207122.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10037,
"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000533608.7",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_207122.2",
"protein_coding": true,
"protein_id": "ENSP00000431173.2",
"strand": true,
"transcript": "ENST00000533608.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 728,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2997,
"cdna_start": null,
"cds_end": null,
"cds_length": 2187,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000358681.8",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351509.4",
"strand": true,
"transcript": "ENST00000358681.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000343631.4",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342656.3",
"strand": true,
"transcript": "ENST00000343631.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 718,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5288,
"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000395673.8",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379032.4",
"strand": true,
"transcript": "ENST00000395673.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 751,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3455,
"cdna_start": null,
"cds_end": null,
"cds_length": 2256,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000401.3",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1179-18T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000392.3",
"strand": true,
"transcript": "NM_000401.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 728,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10067,
"cdna_start": null,
"cds_end": null,
"cds_length": 2187,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001178083.3",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001171554.1",
"strand": true,
"transcript": "NM_001178083.3",
"transcript_support_level": null
},
{
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"aa_length": 718,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9986,
"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001389628.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 6,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376557.1",
"strand": true,
"transcript": "NM_001389628.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10076,
"cdna_start": null,
"cds_end": null,
"cds_length": 2157,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001389630.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 7,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376559.1",
"strand": true,
"transcript": "NM_001389630.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5468,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000683000.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
"hgvs_p": null,
"intron_rank": 8,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000508361.1",
"strand": true,
"transcript": "ENST00000683000.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
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"feature": "ENST00000860016.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530075.1",
"strand": true,
"transcript": "ENST00000860016.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000860017.1",
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"protein_id": "ENSP00000530076.1",
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},
{
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],
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"feature": "ENST00000860018.1",
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"protein_coding": true,
"protein_id": "ENSP00000530077.1",
"strand": true,
"transcript": "ENST00000860018.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000860019.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.1080-18T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530078.1",
"strand": true,
"transcript": "ENST00000860019.1",
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},
{
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"feature": "ENST00000860020.1",
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"hgvs_c": "c.1080-18T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530079.1",
"strand": true,
"transcript": "ENST00000860020.1",
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},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000860021.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000530080.1",
"strand": true,
"transcript": "ENST00000860021.1",
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},
{
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],
"exon_count": 15,
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"feature": "ENST00000958404.1",
"gene_hgnc_id": 3513,
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"protein_coding": true,
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"strand": true,
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},
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],
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"feature": "ENST00000958405.1",
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},
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],
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"feature": "ENST00000860022.1",
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"strand": true,
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},
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"consequences": [
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],
"exon_count": 12,
"exon_rank": null,
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"feature": "ENST00000682359.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.939+5043T>A",
"hgvs_p": null,
"intron_rank": 5,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000508226.1",
"strand": true,
"transcript": "ENST00000682359.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684533.1",
"gene_hgnc_id": 3513,
"gene_symbol": "EXT2",
"hgvs_c": "c.744-18T>A",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507915.1",
"strand": true,
"transcript": "ENST00000684533.1",
"transcript_support_level": null
},
{
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