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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: 17-17219104-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17219104&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FLCN",
"hgnc_id": 27310,
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Pro344Leu",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001353229.2",
"verdict": "Benign"
},
{
"benign_score": 3,
"criteria": [
"BP4_Moderate",
"BP6"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000264187",
"hgnc_id": null,
"hgvs_c": "n.149-50C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -3,
"transcript": "ENST00000427497.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_score": -7,
"allele_count_reference_population": 450,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0677,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"chr": "17",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Birt-Hogg-Dube syndrome,Birt-Hogg-Dube syndrome 1,FLCN-related disorder,Familial spontaneous pneumothorax,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:5 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09662669897079468,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_144997.7",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000285071.9",
"protein_coding": true,
"protein_id": "NP_659434.2",
"strand": false,
"transcript": "NM_144997.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000285071.9",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144997.7",
"protein_coding": true,
"protein_id": "ENSP00000285071.4",
"strand": false,
"transcript": "ENST00000285071.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 1693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000427497.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000264187",
"hgvs_c": "n.149-50C>T",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000394249.3",
"strand": false,
"transcript": "ENST00000427497.3",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 614,
"aa_ref": "P",
"aa_start": 361,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3790,
"cdna_start": 1581,
"cds_end": null,
"cds_length": 1845,
"cds_start": 1082,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000962729.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.1082C>T",
"hgvs_p": "p.Pro361Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632788.1",
"strand": false,
"transcript": "ENST00000962729.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001353229.2",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Pro344Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340158.1",
"strand": false,
"transcript": "NM_001353229.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3720,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962736.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Pro344Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632795.1",
"strand": false,
"transcript": "ENST00000962736.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3789,
"cdna_start": 1580,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000962742.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Pro344Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632801.1",
"strand": false,
"transcript": "ENST00000962742.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 597,
"aa_ref": "P",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3822,
"cdna_start": 1618,
"cds_end": null,
"cds_length": 1794,
"cds_start": 1031,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000962744.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.1031C>T",
"hgvs_p": "p.Pro344Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632803.1",
"strand": false,
"transcript": "ENST00000962744.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 596,
"aa_ref": "P",
"aa_start": 343,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3709,
"cdna_start": 1508,
"cds_end": null,
"cds_length": 1791,
"cds_start": 1028,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962740.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.1028C>T",
"hgvs_p": "p.Pro343Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632799.1",
"strand": false,
"transcript": "ENST00000962740.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001353230.2",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340159.1",
"strand": false,
"transcript": "NM_001353230.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3866,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001353231.2",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340160.1",
"strand": false,
"transcript": "NM_001353231.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 1666,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888043.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558102.1",
"strand": false,
"transcript": "ENST00000888043.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888044.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558103.1",
"strand": false,
"transcript": "ENST00000888044.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 3005,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000888045.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558104.1",
"strand": false,
"transcript": "ENST00000888045.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000918780.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588839.1",
"strand": false,
"transcript": "ENST00000918780.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3656,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000918781.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588840.1",
"strand": false,
"transcript": "ENST00000918781.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": 1260,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962727.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632786.1",
"strand": false,
"transcript": "ENST00000962727.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3598,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000962728.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632787.1",
"strand": false,
"transcript": "ENST00000962728.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 2132,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000962731.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632790.1",
"strand": false,
"transcript": "ENST00000962731.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 579,
"aa_ref": "P",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3737,
"cdna_start": 1534,
"cds_end": null,
"cds_length": 1740,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000962732.1",
"gene_hgnc_id": 27310,
"gene_symbol": "FLCN",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Pro326Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632791.1",
"strand": false,
"transcript": "ENST00000962732.1",
"transcript_support_level": null
},
{
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