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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: 7-2541023-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=2541023&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "BRAT1",
"hgnc_id": 21701,
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001350626.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 7,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0853,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Neonatal-onset encephalopathy with rigidity and seizures,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.19777122139930725,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_152743.4",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340611.9",
"protein_coding": true,
"protein_id": "NP_689956.2",
"strand": false,
"transcript": "NM_152743.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 821,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2779,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2466,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000340611.9",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_152743.4",
"protein_coding": true,
"protein_id": "ENSP00000339637.4",
"strand": false,
"transcript": "ENST00000340611.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 900,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3230,
"cdna_start": 1663,
"cds_end": null,
"cds_length": 2703,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890463.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560522.1",
"strand": false,
"transcript": "ENST00000890463.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 899,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917322.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587381.1",
"strand": false,
"transcript": "ENST00000917322.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 890,
"aa_ref": "A",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2925,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890472.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Ala441Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560531.1",
"strand": false,
"transcript": "ENST00000890472.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 885,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2927,
"cdna_start": 1401,
"cds_end": null,
"cds_length": 2658,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917323.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587382.1",
"strand": false,
"transcript": "ENST00000917323.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350626.2",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337555.1",
"strand": false,
"transcript": "NM_001350626.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890462.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560521.1",
"strand": false,
"transcript": "ENST00000890462.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 881,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 2646,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890481.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560540.1",
"strand": false,
"transcript": "ENST00000890481.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 880,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2915,
"cdna_start": 1402,
"cds_end": null,
"cds_length": 2643,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890470.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560529.1",
"strand": false,
"transcript": "ENST00000890470.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 868,
"aa_ref": "C",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3121,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 2607,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890464.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Cys448Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560523.1",
"strand": false,
"transcript": "ENST00000890464.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 860,
"aa_ref": "A",
"aa_start": 462,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2583,
"cds_start": 1384,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000970715.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1384G>A",
"hgvs_p": "p.Ala462Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640774.1",
"strand": false,
"transcript": "ENST00000970715.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 856,
"aa_ref": "C",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917321.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Cys448Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587380.1",
"strand": false,
"transcript": "ENST00000917321.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 849,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2863,
"cdna_start": 1405,
"cds_end": null,
"cds_length": 2550,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890468.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560527.1",
"strand": false,
"transcript": "ENST00000890468.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 848,
"aa_ref": "A",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 2547,
"cds_start": 1348,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000917319.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1348G>A",
"hgvs_p": "p.Ala450Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587378.1",
"strand": false,
"transcript": "ENST00000917319.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 470,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2788,
"cdna_start": 1486,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1408,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890471.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1408G>A",
"hgvs_p": "p.Ala470Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560530.1",
"strand": false,
"transcript": "ENST00000890471.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 840,
"aa_ref": "C",
"aa_start": 448,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2727,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1343,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000890484.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1343G>A",
"hgvs_p": "p.Cys448Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560543.1",
"strand": false,
"transcript": "ENST00000890484.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 840,
"aa_ref": "A",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 1387,
"cds_end": null,
"cds_length": 2523,
"cds_start": 1351,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000970714.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1351G>A",
"hgvs_p": "p.Ala451Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640773.1",
"strand": false,
"transcript": "ENST00000970714.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 839,
"aa_ref": "A",
"aa_start": 441,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1321,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890474.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1321G>A",
"hgvs_p": "p.Ala441Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560533.1",
"strand": false,
"transcript": "ENST00000890474.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 839,
"aa_ref": "C",
"aa_start": 447,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 2520,
"cds_start": 1340,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890475.1",
"gene_hgnc_id": 21701,
"gene_symbol": "BRAT1",
"hgvs_c": "c.1340G>A",
"hgvs_p": "p.Cys447Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560534.1",
"strand": false,
"transcript": "ENST00000890475.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 837,
"aa_ref": "A",
"aa_start": 467,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2748,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 2514,
"cds_start": 1399,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
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}