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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: 1-10033399-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=10033399&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "UBE4B",
"hgnc_id": 12500,
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001410744.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 97015,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5905,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001105562.3",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343090.11",
"protein_coding": true,
"protein_id": "NP_001099032.1",
"strand": true,
"transcript": "NM_001105562.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1302,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5905,
"cdna_start": null,
"cds_end": null,
"cds_length": 3909,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000343090.11",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001105562.3",
"protein_coding": true,
"protein_id": "ENSP00000343001.6",
"strand": true,
"transcript": "ENST00000343090.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1173,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4772,
"cdna_start": null,
"cds_end": null,
"cds_length": 3522,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000253251.12",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000253251.8",
"strand": true,
"transcript": "ENST00000253251.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1353,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6058,
"cdna_start": null,
"cds_end": null,
"cds_length": 4062,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001410744.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397673.1",
"strand": true,
"transcript": "NM_001410744.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1353,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6184,
"cdna_start": null,
"cds_end": null,
"cds_length": 4062,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000672724.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500453.1",
"strand": true,
"transcript": "ENST00000672724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1336,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6120,
"cdna_start": null,
"cds_end": null,
"cds_length": 4011,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 29,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000963443.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633502.1",
"strand": true,
"transcript": "ENST00000963443.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1226,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5681,
"cdna_start": null,
"cds_end": null,
"cds_length": 3681,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000892379.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000562438.1",
"strand": true,
"transcript": "ENST00000892379.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1201,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5601,
"cdna_start": null,
"cds_end": null,
"cds_length": 3606,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921026.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591085.1",
"strand": true,
"transcript": "ENST00000921026.1",
"transcript_support_level": null
},
{
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"aa_length": 1194,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5303,
"cdna_start": null,
"cds_end": null,
"cds_length": 3585,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921033.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591092.1",
"strand": true,
"transcript": "ENST00000921033.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 5518,
"cdna_start": null,
"cds_end": null,
"cds_length": 3522,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_006048.5",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006039.2",
"strand": true,
"transcript": "NM_006048.5",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 27,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921027.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591086.1",
"strand": true,
"transcript": "ENST00000921027.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
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],
"exon_count": 27,
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"feature": "ENST00000892381.1",
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"gene_symbol": "UBE4B",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562440.1",
"strand": true,
"transcript": "ENST00000892381.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000921030.1",
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"hgvs_c": "c.-272C>T",
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"protein_coding": true,
"protein_id": "ENSP00000591089.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 27,
"exon_rank": 1,
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"feature": "ENST00000921031.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "ENST00000921031.1",
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},
{
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"consequences": [
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],
"exon_count": 26,
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"feature": "ENST00000892380.1",
"gene_hgnc_id": 12500,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000562439.1",
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"transcript": "ENST00000892380.1",
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},
{
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921032.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000591091.1",
"strand": true,
"transcript": "ENST00000921032.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 25,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000892382.1",
"gene_hgnc_id": 12500,
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"hgvs_c": "c.-272C>T",
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"protein_id": "ENSP00000562441.1",
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},
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"cds_start": null,
"consequences": [
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],
"exon_count": 25,
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"feature": "ENST00000892383.1",
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"strand": true,
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},
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"consequences": [
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],
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"exon_rank": 1,
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"feature": "ENST00000921028.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
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},
{
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 22,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921034.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000591093.1",
"strand": true,
"transcript": "ENST00000921034.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3653,
"cdna_start": null,
"cds_end": null,
"cds_length": 1665,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 12,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000921029.1",
"gene_hgnc_id": 12500,
"gene_symbol": "UBE4B",
"hgvs_c": "c.-272C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000591088.1",
"strand": true,
"transcript": "ENST00000921029.1",
"transcript_support_level": null
},
{
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