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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: 3-88140191-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=88140191&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 88140191,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000636215.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.2522T>G",
"hgvs_p": "p.Ile841Arg",
"transcript": "NM_001350134.2",
"protein_id": "NP_001337063.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 6460,
"mane_select": "ENST00000636215.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.2522T>G",
"hgvs_p": "p.Ile841Arg",
"transcript": "ENST00000636215.2",
"protein_id": "ENSP00000490842.1",
"transcript_support_level": 5,
"aa_start": 841,
"aa_end": null,
"aa_length": 1128,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 6460,
"mane_select": "NM_001350134.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CGGBP1",
"gene_hgnc_id": 1888,
"hgvs_c": "c.-229+779A>C",
"hgvs_p": null,
"transcript": "ENST00000462901.5",
"protein_id": "ENSP00000418769.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1063,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.2183T>G",
"hgvs_p": "p.Ile728Arg",
"transcript": "NM_001350135.2",
"protein_id": "NP_001337064.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1015,
"cds_start": 2183,
"cds_end": null,
"cds_length": 3048,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.1886T>G",
"hgvs_p": "p.Ile629Arg",
"transcript": "NM_001350136.2",
"protein_id": "NP_001337065.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 916,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2451,
"cdna_end": null,
"cdna_length": 6324,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.1886T>G",
"hgvs_p": "p.Ile629Arg",
"transcript": "NM_001366093.1",
"protein_id": "NP_001353022.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 916,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2475,
"cdna_end": null,
"cdna_length": 6348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.1886T>G",
"hgvs_p": "p.Ile629Arg",
"transcript": "NM_001366095.1",
"protein_id": "NP_001353024.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 916,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2441,
"cdna_end": null,
"cdna_length": 6314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.1886T>G",
"hgvs_p": "p.Ile629Arg",
"transcript": "NM_001366096.1",
"protein_id": "NP_001353025.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 916,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2751,
"cdna_start": 2305,
"cdna_end": null,
"cdna_length": 6178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.1700T>G",
"hgvs_p": "p.Ile567Arg",
"transcript": "NM_001350137.2",
"protein_id": "NP_001337066.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 854,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2384,
"cdna_end": null,
"cdna_length": 6257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.1700T>G",
"hgvs_p": "p.Ile567Arg",
"transcript": "NM_001366097.1",
"protein_id": "NP_001353026.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 854,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2565,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 6291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.2522T>G",
"hgvs_p": "p.Ile841Arg",
"transcript": "XM_017006789.3",
"protein_id": "XP_016862278.1",
"transcript_support_level": null,
"aa_start": 841,
"aa_end": null,
"aa_length": 1151,
"cds_start": 2522,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 2587,
"cdna_end": null,
"cdna_length": 7056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.2183T>G",
"hgvs_p": "p.Ile728Arg",
"transcript": "XM_017006791.3",
"protein_id": "XP_016862280.1",
"transcript_support_level": null,
"aa_start": 728,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2183,
"cds_end": null,
"cds_length": 3117,
"cdna_start": 2248,
"cdna_end": null,
"cdna_length": 6717,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.1886T>G",
"hgvs_p": "p.Ile629Arg",
"transcript": "XM_047448514.1",
"protein_id": "XP_047304470.1",
"transcript_support_level": null,
"aa_start": 629,
"aa_end": null,
"aa_length": 939,
"cds_start": 1886,
"cds_end": null,
"cds_length": 2820,
"cdna_start": 2054,
"cdna_end": null,
"cdna_length": 6523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"hgvs_c": "c.1700T>G",
"hgvs_p": "p.Ile567Arg",
"transcript": "XM_024453623.2",
"protein_id": "XP_024309391.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 877,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2634,
"cdna_start": 1850,
"cdna_end": null,
"cdna_length": 6319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CGGBP1",
"gene_hgnc_id": 1888,
"hgvs_c": "c.-229+779A>C",
"hgvs_p": null,
"transcript": "NM_001195308.2",
"protein_id": "NP_001182237.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CGGBP1",
"gene_hgnc_id": 1888,
"hgvs_c": "c.-24+779A>C",
"hgvs_p": null,
"transcript": "ENST00000467332.1",
"protein_id": "ENSP00000419459.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 105,
"cds_start": -4,
"cds_end": null,
"cds_length": 319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF654",
"gene_hgnc_id": 25612,
"dbsnp": "rs7653652",
"frequency_reference_population": 6.841995e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.842e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.27158111333847046,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.104,
"revel_prediction": "Benign",
"alphamissense_score": 0.1908,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.127,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000636215.2",
"gene_symbol": "ZNF654",
"hgnc_id": 25612,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2522T>G",
"hgvs_p": "p.Ile841Arg"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001195308.2",
"gene_symbol": "CGGBP1",
"hgnc_id": 1888,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-229+779A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}