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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: 3-113278222-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=113278222&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BOC",
"hgnc_id": 17173,
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001301861.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.7575,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Holoprosencephaly sequence",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9160821437835693,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 2299,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001378074.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000682979.1",
"protein_coding": true,
"protein_id": "NP_001365003.1",
"strand": true,
"transcript": "NM_001378074.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 2299,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000682979.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001378074.1",
"protein_coding": true,
"protein_id": "ENSP00000507783.1",
"strand": true,
"transcript": "ENST00000682979.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4276,
"cdna_start": 2009,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000273395.8",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000273395.4",
"strand": true,
"transcript": "ENST00000273395.8",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4646,
"cdna_start": 2371,
"cds_end": null,
"cds_length": 3345,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000495514.5",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418663.1",
"strand": true,
"transcript": "ENST00000495514.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4461,
"cdna_start": 2080,
"cds_end": null,
"cds_length": 3450,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000928198.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598257.1",
"strand": true,
"transcript": "ENST00000928198.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 2296,
"cds_end": null,
"cds_length": 3450,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959895.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629954.1",
"strand": true,
"transcript": "ENST00000959895.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4545,
"cdna_start": 2173,
"cds_end": null,
"cds_length": 3450,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959901.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629960.1",
"strand": true,
"transcript": "ENST00000959901.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4673,
"cdna_start": 2292,
"cds_end": null,
"cds_length": 3447,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909640.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579699.1",
"strand": true,
"transcript": "ENST00000909640.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1148,
"aa_ref": "G",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4569,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 3447,
"cds_start": 1667,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000959900.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1667G>A",
"hgvs_p": "p.Gly556Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629959.1",
"strand": true,
"transcript": "ENST00000959900.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4696,
"cdna_start": 2421,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001301861.2",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288790.1",
"strand": true,
"transcript": "NM_001301861.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 2303,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001378073.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365002.1",
"strand": true,
"transcript": "NM_001378073.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4692,
"cdna_start": 2417,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001387919.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001374848.1",
"strand": true,
"transcript": "NM_001387919.1",
"transcript_support_level": null
},
{
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"aa_length": 1115,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4254,
"cdna_start": 1990,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909635.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579694.1",
"strand": true,
"transcript": "ENST00000909635.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4675,
"cdna_start": 2400,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909636.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579695.1",
"strand": true,
"transcript": "ENST00000909636.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
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"aa_length": 1115,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4243,
"cdna_start": 2500,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000909645.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579704.1",
"strand": true,
"transcript": "ENST00000909645.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4087,
"cdna_start": 2344,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909646.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579705.1",
"strand": true,
"transcript": "ENST00000909646.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4050,
"cdna_start": 2307,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909651.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579710.1",
"strand": true,
"transcript": "ENST00000909651.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
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"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4061,
"cdna_start": 2318,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909652.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579711.1",
"strand": true,
"transcript": "ENST00000909652.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3760,
"cdna_start": 2017,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000909654.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000579713.1",
"strand": true,
"transcript": "ENST00000909654.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4452,
"cdna_start": 2177,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000928196.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
"hgvs_p": "p.Gly557Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598255.1",
"strand": true,
"transcript": "ENST00000928196.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 1115,
"aa_ref": "G",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 3348,
"cds_start": 1670,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000959893.1",
"gene_hgnc_id": 17173,
"gene_symbol": "BOC",
"hgvs_c": "c.1670G>A",
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