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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: 3-113962104-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113962104&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": [
"3_prime_UTR_variant"
],
"gene_symbol": "ZDHHC23",
"hgnc_id": 28654,
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001320466.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 35171,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.8,
"chr": "3",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.800000011920929,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": null,
"cds_end": null,
"cds_length": 1308,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320466.2",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000638807.2",
"protein_coding": true,
"protein_id": "NP_001307395.1",
"strand": true,
"transcript": "NM_001320466.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6346,
"cdna_start": null,
"cds_end": null,
"cds_length": 1308,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000638807.2",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001320466.2",
"protein_coding": true,
"protein_id": "ENSP00000492287.2",
"strand": true,
"transcript": "ENST00000638807.2",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 409,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3778,
"cdna_start": null,
"cds_end": null,
"cds_length": 1230,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000330212.7",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*1371A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000330485.3",
"strand": true,
"transcript": "ENST00000330212.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6238,
"cdna_start": null,
"cds_end": null,
"cds_length": 1308,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320467.2",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307396.1",
"strand": true,
"transcript": "NM_001320467.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5921,
"cdna_start": null,
"cds_end": null,
"cds_length": 1308,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869326.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539385.1",
"strand": true,
"transcript": "ENST00000869326.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 435,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5930,
"cdna_start": null,
"cds_end": null,
"cds_length": 1308,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869327.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539386.1",
"strand": true,
"transcript": "ENST00000869327.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001320468.2",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307397.1",
"strand": true,
"transcript": "NM_001320468.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5696,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000932004.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602063.1",
"strand": true,
"transcript": "ENST00000932004.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6435,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954481.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624540.1",
"strand": true,
"transcript": "ENST00000954481.1",
"transcript_support_level": null
},
{
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"aa_length": 432,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5941,
"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954482.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624541.1",
"strand": true,
"transcript": "ENST00000954482.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1239,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001363952.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*2561A>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350881.1",
"strand": true,
"transcript": "NM_001363952.1",
"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": 4057,
"cdna_start": null,
"cds_end": null,
"cds_length": 1230,
"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"exon_rank_end": null,
"feature": "NM_173570.5",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*1371A>G",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_775841.2",
"strand": true,
"transcript": "NM_173570.5",
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},
{
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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": 5,
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"feature": "XM_011512618.3",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_011510920.1",
"strand": true,
"transcript": "XM_011512618.3",
"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,
"cds_length": 1308,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047447882.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303838.1",
"strand": true,
"transcript": "XM_047447882.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 5,
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"feature": "XM_017006084.2",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_016861573.1",
"strand": true,
"transcript": "XM_017006084.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 1299,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047447883.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*3474A>G",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047303839.1",
"strand": true,
"transcript": "XM_047447883.1",
"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": 5476,
"cdna_start": null,
"cds_end": null,
"cds_length": 1239,
"cds_start": null,
"consequences": [
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],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011512619.2",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*2561A>G",
"hgvs_p": null,
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"protein_coding": true,
"protein_id": "XP_011510921.1",
"strand": true,
"transcript": "XM_011512619.2",
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},
{
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"consequences": [
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],
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"feature": "XM_047447887.1",
"gene_hgnc_id": 28654,
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"strand": true,
"transcript": "XM_047447887.1",
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},
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"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 6,
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"feature": "XM_047447888.1",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*2561A>G",
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"mane_plus": null,
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"protein_coding": true,
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"strand": true,
"transcript": "XM_047447888.1",
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},
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"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_005247269.2",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*1371A>G",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005247326.1",
"strand": true,
"transcript": "XM_005247269.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5467,
"cdna_start": null,
"cds_end": null,
"cds_length": 1230,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_017006087.2",
"gene_hgnc_id": 28654,
"gene_symbol": "ZDHHC23",
"hgvs_c": "c.*2561A>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016861576.1",
"strand": true,
"transcript": "XM_017006087.2",
"transcript_support_level": null
},
{
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"aa_ref": null,
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}
]
}