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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: 9-14846038-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14846038&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FREM1",
"hgnc_id": 23399,
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Val439Leu",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_144966.7",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 957319,
"alphamissense_prediction": null,
"alphamissense_score": 0.2042,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "Oculotrichoanal syndrome,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000003631566414696863,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "V",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7566,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 6540,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001379081.2",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Val439Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000380880.4",
"protein_coding": true,
"protein_id": "NP_001366010.1",
"strand": false,
"transcript": "NM_001379081.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "V",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7566,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 6540,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000380880.4",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Val439Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001379081.2",
"protein_coding": true,
"protein_id": "ENSP00000370262.3",
"strand": false,
"transcript": "ENST00000380880.4",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 6126,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 31,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000380875.7",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "n.1315G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000370257.3",
"strand": false,
"transcript": "ENST00000380875.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "V",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7600,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 6540,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_144966.7",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Val439Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_659403.4",
"strand": false,
"transcript": "NM_144966.7",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "V",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10100,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 6540,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000895028.1",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Val439Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565087.1",
"strand": false,
"transcript": "ENST00000895028.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2188,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7593,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 6567,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017014316.3",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869805.1",
"strand": false,
"transcript": "XM_017014316.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2188,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7795,
"cdna_start": 2326,
"cds_end": null,
"cds_length": 6567,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_017014319.3",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869808.1",
"strand": false,
"transcript": "XM_017014319.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2188,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7722,
"cdna_start": 2253,
"cds_end": null,
"cds_length": 6567,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_017014320.3",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869809.1",
"strand": false,
"transcript": "XM_017014320.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2188,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7385,
"cdna_start": 1916,
"cds_end": null,
"cds_length": 6567,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017014321.3",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869810.1",
"strand": false,
"transcript": "XM_017014321.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2188,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7352,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 6567,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017014322.2",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869811.1",
"strand": false,
"transcript": "XM_017014322.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2188,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7627,
"cdna_start": 2158,
"cds_end": null,
"cds_length": 6567,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422844.1",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278800.1",
"strand": false,
"transcript": "XM_047422844.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2188,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7891,
"cdna_start": 2422,
"cds_end": null,
"cds_length": 6567,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422845.1",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278801.1",
"strand": false,
"transcript": "XM_047422845.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "V",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7358,
"cdna_start": 1889,
"cds_end": null,
"cds_length": 6540,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422846.1",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Val439Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278802.1",
"strand": false,
"transcript": "XM_047422846.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "V",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7325,
"cdna_start": 1856,
"cds_end": null,
"cds_length": 6540,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047422847.1",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Val439Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278803.1",
"strand": false,
"transcript": "XM_047422847.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2179,
"aa_ref": "V",
"aa_start": 439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7695,
"cdna_start": 2226,
"cds_end": null,
"cds_length": 6540,
"cds_start": 1315,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047422848.1",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1315G>C",
"hgvs_p": "p.Val439Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047278804.1",
"strand": false,
"transcript": "XM_047422848.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2138,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7443,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 6417,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017014324.3",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869813.1",
"strand": false,
"transcript": "XM_017014324.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2099,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7477,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 6300,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017014325.3",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869814.1",
"strand": false,
"transcript": "XM_017014325.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 2052,
"aa_ref": "V",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6728,
"cdna_start": 1259,
"cds_end": null,
"cds_length": 6159,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_017014326.2",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.934G>C",
"hgvs_p": "p.Val312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869815.1",
"strand": false,
"transcript": "XM_017014326.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1880,
"aa_ref": "V",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6036,
"cdna_start": 567,
"cds_end": null,
"cds_length": 5643,
"cds_start": 418,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017014327.3",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.418G>C",
"hgvs_p": "p.Val140Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869816.1",
"strand": false,
"transcript": "XM_017014327.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1836,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7186,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 5511,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017014328.3",
"gene_hgnc_id": 23399,
"gene_symbol": "FREM1",
"hgvs_c": "c.1342G>C",
"hgvs_p": "p.Val448Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869817.1",
"strand": false,
"transcript": "XM_017014328.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1816,
"aa_ref": "V",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9449,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 5451,
"cds_start": 1342,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 8,
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