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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: 17-78121647-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78121647&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP6"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMC6",
"hgnc_id": 18021,
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_007267.7",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6",
"acmg_score": -3,
"allele_count_reference_population": 125,
"alphamissense_prediction": null,
"alphamissense_score": 0.0647,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Epidermodysplasia verruciformis,Inborn genetic diseases",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.022254258394241333,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 805,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8387,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001127198.5",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000590602.6",
"protein_coding": true,
"protein_id": "NP_001120670.1",
"strand": false,
"transcript": "NM_001127198.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 805,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8387,
"cdna_start": 1510,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000590602.6",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001127198.5",
"protein_coding": true,
"protein_id": "ENSP00000465261.1",
"strand": false,
"transcript": "ENST00000590602.6",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 805,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000322914.7",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313408.2",
"strand": false,
"transcript": "ENST00000322914.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 805,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 1480,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000392467.7",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376260.2",
"strand": false,
"transcript": "ENST00000392467.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 853,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 2562,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893492.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563551.1",
"strand": false,
"transcript": "ENST00000893492.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 809,
"aa_ref": "A",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2880,
"cdna_start": 1525,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893468.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Ala435Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563527.1",
"strand": false,
"transcript": "ENST00000893468.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 809,
"aa_ref": "A",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2875,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893485.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Ala435Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563544.1",
"strand": false,
"transcript": "ENST00000893485.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 809,
"aa_ref": "A",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000922743.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1304C>T",
"hgvs_p": "p.Ala435Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592802.1",
"strand": false,
"transcript": "ENST00000922743.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 805,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001321185.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308114.1",
"strand": false,
"transcript": "NM_001321185.1",
"transcript_support_level": null
},
{
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"aa_length": 805,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7030,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001374596.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361525.1",
"strand": false,
"transcript": "NM_001374596.1",
"transcript_support_level": null
},
{
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"aa_length": 805,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 1531,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001375353.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362282.1",
"strand": false,
"transcript": "NM_001375353.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1578,
"cds_end": null,
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"consequences": [
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],
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"feature": "NM_001375354.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001362283.1",
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"transcript": "NM_001375354.1",
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},
{
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"cdna_start": 1453,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
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"feature": "NM_007267.7",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_009198.4",
"strand": false,
"transcript": "NM_007267.7",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 1540,
"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
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"feature": "ENST00000589271.6",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000468255.2",
"strand": false,
"transcript": "ENST00000589271.6",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 20,
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"exon_rank_end": null,
"feature": "ENST00000592063.6",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466885.2",
"strand": false,
"transcript": "ENST00000592063.6",
"transcript_support_level": 5
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 1506,
"cds_end": null,
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"cds_start": 1292,
"consequences": [
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],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000698550.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513793.1",
"strand": false,
"transcript": "ENST00000698550.1",
"transcript_support_level": null
},
{
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"feature": "ENST00000893453.1",
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"gene_symbol": "TMC6",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563512.1",
"strand": false,
"transcript": "ENST00000893453.1",
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},
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],
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"feature": "ENST00000893454.1",
"gene_hgnc_id": 18021,
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"hgvs_c": "c.1292C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000563513.1",
"strand": false,
"transcript": "ENST00000893454.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": 1443,
"cds_end": null,
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"consequences": [
"missense_variant"
],
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"exon_rank_end": null,
"feature": "ENST00000893455.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563514.1",
"strand": false,
"transcript": "ENST00000893455.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 805,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3649,
"cdna_start": 2294,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893460.1",
"gene_hgnc_id": 18021,
"gene_symbol": "TMC6",
"hgvs_c": "c.1292C>T",
"hgvs_p": "p.Ala431Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563519.1",
"strand": false,
"transcript": "ENST00000893460.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 805,
"aa_ref": "A",
"aa_start": 431,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3007,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 2418,
"cds_start": 1292,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000893481.1",
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