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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: 6-144186653-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=144186653&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STX11",
"hgnc_id": 11429,
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_003764.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0673,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.55,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05104181170463562,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5504,
"cdna_start": 218,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_003764.4",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367568.5",
"protein_coding": true,
"protein_id": "NP_003755.2",
"strand": true,
"transcript": "NM_003764.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5504,
"cdna_start": 218,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000367568.5",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003764.4",
"protein_coding": true,
"protein_id": "ENSP00000356540.4",
"strand": true,
"transcript": "ENST00000367568.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 385,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000698355.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513678.1",
"strand": true,
"transcript": "ENST00000698355.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4211,
"cdna_start": 302,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000698356.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513679.1",
"strand": true,
"transcript": "ENST00000698356.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1800,
"cdna_start": 70,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000698357.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513680.1",
"strand": true,
"transcript": "ENST00000698357.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5491,
"cdna_start": 207,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872511.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542570.1",
"strand": true,
"transcript": "ENST00000872511.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2410,
"cdna_start": 692,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872512.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542571.1",
"strand": true,
"transcript": "ENST00000872512.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 324,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872513.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542572.1",
"strand": true,
"transcript": "ENST00000872513.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 244,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872514.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542573.1",
"strand": true,
"transcript": "ENST00000872514.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2641,
"cdna_start": 924,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000872515.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542574.1",
"strand": true,
"transcript": "ENST00000872515.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 669,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000872516.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542575.1",
"strand": true,
"transcript": "ENST00000872516.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1515,
"cdna_start": 456,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872517.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542576.1",
"strand": true,
"transcript": "ENST00000872517.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1345,
"cdna_start": 404,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872518.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542577.1",
"strand": true,
"transcript": "ENST00000872518.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1187,
"cdna_start": 246,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872519.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542578.1",
"strand": true,
"transcript": "ENST00000872519.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4238,
"cdna_start": 366,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000951880.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621939.1",
"strand": true,
"transcript": "ENST00000951880.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 75,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000951881.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621940.1",
"strand": true,
"transcript": "ENST00000951881.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2228,
"cdna_start": 513,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951882.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621941.1",
"strand": true,
"transcript": "ENST00000951882.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 442,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000951883.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621942.1",
"strand": true,
"transcript": "ENST00000951883.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 313,
"aa_ref": "L",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5697,
"cdna_start": 411,
"cds_end": null,
"cds_length": 942,
"cds_start": 104,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011536213.3",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.104T>A",
"hgvs_p": "p.Leu35Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011534515.1",
"strand": true,
"transcript": "XM_011536213.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 313,
"aa_ref": "L",
"aa_start": 35,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5722,
"cdna_start": 436,
"cds_end": null,
"cds_length": 942,
"cds_start": 104,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047419436.1",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.104T>A",
"hgvs_p": "p.Leu35Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275392.1",
"strand": true,
"transcript": "XM_047419436.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 287,
"aa_ref": "L",
"aa_start": 9,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5641,
"cdna_start": 355,
"cds_end": null,
"cds_length": 864,
"cds_start": 26,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_011536214.3",
"gene_hgnc_id": 11429,
"gene_symbol": "STX11",
"hgvs_c": "c.26T>A",
"hgvs_p": "p.Leu9Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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