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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: 11-40114776-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=40114776&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LRRC4C",
"hgnc_id": 29317,
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_020929.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000306946",
"hgnc_id": null,
"hgvs_c": "n.206+2174G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000822121.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1534,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.35,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6563328504562378,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 2234,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001258419.2",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000528697.6",
"protein_coding": true,
"protein_id": "NP_001245348.1",
"strand": false,
"transcript": "NM_001258419.2",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2801,
"cdna_start": 2234,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000528697.6",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001258419.2",
"protein_coding": true,
"protein_id": "ENSP00000437132.1",
"strand": false,
"transcript": "ENST00000528697.6",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 3481,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000278198.2",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000278198.1",
"strand": false,
"transcript": "ENST00000278198.2",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3085,
"cdna_start": 2550,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527150.5",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436976.1",
"strand": false,
"transcript": "ENST00000527150.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2669,
"cdna_start": 2186,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000530763.5",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434761.1",
"strand": false,
"transcript": "ENST00000530763.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 2065,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_020929.3",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_065980.1",
"strand": false,
"transcript": "NM_020929.3",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2475,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901039.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571098.1",
"strand": false,
"transcript": "ENST00000901039.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4725,
"cdna_start": 3631,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901040.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571099.1",
"strand": false,
"transcript": "ENST00000901040.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4237,
"cdna_start": 3670,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901041.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571100.1",
"strand": false,
"transcript": "ENST00000901041.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4102,
"cdna_start": 3567,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901042.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571101.1",
"strand": false,
"transcript": "ENST00000901042.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4011,
"cdna_start": 3564,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000901043.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571102.1",
"strand": false,
"transcript": "ENST00000901043.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000901044.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571103.1",
"strand": false,
"transcript": "ENST00000901044.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3050,
"cdna_start": 2044,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000966813.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636872.1",
"strand": false,
"transcript": "ENST00000966813.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 1818,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966814.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636873.1",
"strand": false,
"transcript": "ENST00000966814.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2858,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966815.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636874.1",
"strand": false,
"transcript": "ENST00000966815.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3027,
"cdna_start": 2021,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966816.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636875.1",
"strand": false,
"transcript": "ENST00000966816.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2778,
"cdna_start": 1772,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000966817.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636876.1",
"strand": false,
"transcript": "ENST00000966817.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2942,
"cdna_start": 1937,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000966818.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636877.1",
"strand": false,
"transcript": "ENST00000966818.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3505,
"cdna_start": 3033,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000966819.1",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636878.1",
"strand": false,
"transcript": "ENST00000966819.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3023,
"cdna_start": 2446,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011520238.4",
"gene_hgnc_id": 29317,
"gene_symbol": "LRRC4C",
"hgvs_c": "c.1517C>A",
"hgvs_p": "p.Thr506Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011518540.1",
"strand": false,
"transcript": "XM_011520238.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 640,
"aa_ref": "T",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3089,
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"phylop100way_prediction": "Pathogenic",
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"transcript": "NM_020929.3"
}
]
}