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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: 3-14146143-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=14146143&ref=G&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": "XPC",
"hgnc_id": 12816,
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Pro874Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_004628.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000268279",
"hgnc_id": null,
"hgvs_c": "n.*198+460G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000608606.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "XPC-AS1",
"hgnc_id": 55014,
"hgvs_c": "n.594+687G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000420253.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 18,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0848,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " group C,Inborn genetic diseases,Xeroderma pigmentosum,not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05817261338233948,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 940,
"aa_ref": "P",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 2654,
"cds_end": null,
"cds_length": 2823,
"cds_start": 2621,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_004628.5",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Pro874Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000285021.12",
"protein_coding": true,
"protein_id": "NP_004619.3",
"strand": false,
"transcript": "NM_004628.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 940,
"aa_ref": "P",
"aa_start": 874,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3650,
"cdna_start": 2654,
"cds_end": null,
"cds_length": 2823,
"cds_start": 2621,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000285021.12",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2621C>T",
"hgvs_p": "p.Pro874Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004628.5",
"protein_coding": true,
"protein_id": "ENSP00000285021.8",
"strand": false,
"transcript": "ENST00000285021.12",
"transcript_support_level": 1
},
{
"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": 2944,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000476581.6",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "n.*2074C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424548.1",
"strand": false,
"transcript": "ENST00000476581.6",
"transcript_support_level": 1
},
{
"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": 2944,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000476581.6",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "n.*2074C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000424548.1",
"strand": false,
"transcript": "ENST00000476581.6",
"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": 653,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000608606.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000268279",
"hgvs_c": "n.*198+460G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000476275.1",
"strand": true,
"transcript": "ENST00000608606.1",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 938,
"aa_ref": "P",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 2648,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2615,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001354727.2",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2615C>T",
"hgvs_p": "p.Pro872Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341656.1",
"strand": false,
"transcript": "NM_001354727.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 938,
"aa_ref": "P",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 2647,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2615,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000850575.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2615C>T",
"hgvs_p": "p.Pro872Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520865.1",
"strand": false,
"transcript": "ENST00000850575.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 938,
"aa_ref": "P",
"aa_start": 872,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3473,
"cdna_start": 2626,
"cds_end": null,
"cds_length": 2817,
"cds_start": 2615,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000887853.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2615C>T",
"hgvs_p": "p.Pro872Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557912.1",
"strand": false,
"transcript": "ENST00000887853.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 934,
"aa_ref": "P",
"aa_start": 868,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3632,
"cdna_start": 2636,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2603,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001354729.2",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2603C>T",
"hgvs_p": "p.Pro868Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341658.1",
"strand": false,
"transcript": "NM_001354729.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 931,
"aa_ref": "P",
"aa_start": 865,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3628,
"cdna_start": 2632,
"cds_end": null,
"cds_length": 2796,
"cds_start": 2594,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000887850.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2594C>T",
"hgvs_p": "p.Pro865Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557909.1",
"strand": false,
"transcript": "ENST00000887850.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 920,
"aa_ref": "P",
"aa_start": 854,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3477,
"cdna_start": 2631,
"cds_end": null,
"cds_length": 2763,
"cds_start": 2561,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000933892.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2561C>T",
"hgvs_p": "p.Pro854Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603951.1",
"strand": false,
"transcript": "ENST00000933892.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 910,
"aa_ref": "P",
"aa_start": 844,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3560,
"cdna_start": 2564,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2531,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000933891.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2531C>T",
"hgvs_p": "p.Pro844Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603950.1",
"strand": false,
"transcript": "ENST00000933891.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 859,
"aa_ref": "P",
"aa_start": 793,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3458,
"cdna_start": 2462,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2378,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000933890.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2378C>T",
"hgvs_p": "p.Pro793Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603949.1",
"strand": false,
"transcript": "ENST00000933890.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 858,
"aa_ref": "P",
"aa_start": 792,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3404,
"cdna_start": 2408,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2375,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001354730.2",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2375C>T",
"hgvs_p": "p.Pro792Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341659.1",
"strand": false,
"transcript": "NM_001354730.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 858,
"aa_ref": "P",
"aa_start": 792,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3446,
"cdna_start": 2450,
"cds_end": null,
"cds_length": 2577,
"cds_start": 2375,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000887849.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2375C>T",
"hgvs_p": "p.Pro792Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557908.1",
"strand": false,
"transcript": "ENST00000887849.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 805,
"aa_ref": "P",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3243,
"cdna_start": 2249,
"cds_end": null,
"cds_length": 2418,
"cds_start": 2216,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000887852.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2216C>T",
"hgvs_p": "p.Pro739Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557911.1",
"strand": false,
"transcript": "ENST00000887852.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 747,
"aa_ref": "P",
"aa_start": 681,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3526,
"cdna_start": 2530,
"cds_end": null,
"cds_length": 2244,
"cds_start": 2042,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001354726.2",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.2042C>T",
"hgvs_p": "p.Pro681Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001341655.1",
"strand": false,
"transcript": "NM_001354726.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 535,
"aa_ref": "P",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2437,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000887851.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "c.1406C>T",
"hgvs_p": "p.Pro469Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000557910.1",
"strand": false,
"transcript": "ENST00000887851.1",
"transcript_support_level": null
},
{
"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": 4048,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000850573.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
"hgvs_c": "n.*2602C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000520863.1",
"strand": false,
"transcript": "ENST00000850573.1",
"transcript_support_level": null
},
{
"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": 3319,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000850574.1",
"gene_hgnc_id": 12816,
"gene_symbol": "XPC",
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