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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: 3-108608118-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=108608118&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DZIP3",
"hgnc_id": 30938,
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_014648.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0855,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.08124944567680359,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 252,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_014648.4",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361582.8",
"protein_coding": true,
"protein_id": "NP_055463.1",
"strand": true,
"transcript": "NM_014648.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5304,
"cdna_start": 252,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000361582.8",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014648.4",
"protein_coding": true,
"protein_id": "ENSP00000355028.3",
"strand": true,
"transcript": "ENST00000361582.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4246,
"cdna_start": 191,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000463306.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419981.1",
"strand": true,
"transcript": "ENST00000463306.1",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": 269,
"cds_end": null,
"cds_length": 3633,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927107.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597166.1",
"strand": true,
"transcript": "ENST00000927107.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4742,
"cdna_start": 657,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906855.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576914.1",
"strand": true,
"transcript": "ENST00000906855.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4387,
"cdna_start": 293,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906856.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576915.1",
"strand": true,
"transcript": "ENST00000906856.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5328,
"cdna_start": 272,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000906857.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576916.1",
"strand": true,
"transcript": "ENST00000906857.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4950,
"cdna_start": 691,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927101.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597160.1",
"strand": true,
"transcript": "ENST00000927101.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5279,
"cdna_start": 224,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000944671.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614730.1",
"strand": true,
"transcript": "ENST00000944671.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1208,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6921,
"cdna_start": 214,
"cds_end": null,
"cds_length": 3627,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000944673.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614732.1",
"strand": true,
"transcript": "ENST00000944673.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1206,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5269,
"cdna_start": 227,
"cds_end": null,
"cds_length": 3621,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000944677.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614736.1",
"strand": true,
"transcript": "ENST00000944677.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5299,
"cdna_start": 280,
"cds_end": null,
"cds_length": 3594,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927085.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597148.1",
"strand": true,
"transcript": "ENST00000927085.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4951,
"cdna_start": 740,
"cds_end": null,
"cds_length": 3594,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000944674.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614733.1",
"strand": true,
"transcript": "ENST00000944674.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1197,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 196,
"cds_end": null,
"cds_length": 3594,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000944675.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614734.1",
"strand": true,
"transcript": "ENST00000944675.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1188,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5716,
"cdna_start": 728,
"cds_end": null,
"cds_length": 3567,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000906858.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576917.1",
"strand": true,
"transcript": "ENST00000906858.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5284,
"cdna_start": 286,
"cds_end": null,
"cds_length": 3567,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927083.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597142.1",
"strand": true,
"transcript": "ENST00000927083.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1185,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4425,
"cdna_start": 251,
"cds_end": null,
"cds_length": 3558,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000944676.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000614735.1",
"strand": true,
"transcript": "ENST00000944676.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_length": 1183,
"aa_ref": "E",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 282,
"cds_end": null,
"cds_length": 3552,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927110.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597168.1",
"strand": true,
"transcript": "ENST00000927110.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
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"aa_ref": "E",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 4859,
"cdna_start": 713,
"cds_end": null,
"cds_length": 3528,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927105.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597164.1",
"strand": true,
"transcript": "ENST00000927105.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1175,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 294,
"cds_end": null,
"cds_length": 3528,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927108.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597167.1",
"strand": true,
"transcript": "ENST00000927108.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1172,
"aa_ref": "E",
"aa_start": 21,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4599,
"cdna_start": 455,
"cds_end": null,
"cds_length": 3519,
"cds_start": 62,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000927103.1",
"gene_hgnc_id": 30938,
"gene_symbol": "DZIP3",
"hgvs_c": "c.62A>G",
"hgvs_p": "p.Glu21Gly",
"intron_rank": null,
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