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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: 12-56343452-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56343452&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "STAT2",
"hgnc_id": 11363,
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -5,
"transcript": "NM_005419.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -5,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "12",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 851,
"aa_ref": "E",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2550,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2493,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_005419.4",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000314128.9",
"protein_coding": true,
"protein_id": "NP_005410.1",
"strand": false,
"transcript": "NM_005419.4",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 851,
"aa_ref": "E",
"aa_start": 831,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4405,
"cdna_start": 2550,
"cds_end": null,
"cds_length": 2556,
"cds_start": 2493,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000314128.9",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2493G>A",
"hgvs_p": "p.Glu831Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005419.4",
"protein_coding": true,
"protein_id": "ENSP00000315768.4",
"strand": false,
"transcript": "ENST00000314128.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3278,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000556539.5",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "n.1423G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000556539.5",
"transcript_support_level": 1
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 859,
"aa_ref": "E",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4483,
"cdna_start": 2628,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2517,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000922389.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Glu839Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592448.1",
"strand": false,
"transcript": "ENST00000922389.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 850,
"aa_ref": "E",
"aa_start": 830,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 2553,
"cds_start": 2490,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000960656.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2490G>A",
"hgvs_p": "p.Glu830Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630715.1",
"strand": false,
"transcript": "ENST00000960656.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 847,
"aa_ref": "E",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4393,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2481,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_198332.2",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2481G>A",
"hgvs_p": "p.Glu827Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_938146.1",
"strand": false,
"transcript": "NM_198332.2",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 847,
"aa_ref": "E",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3073,
"cdna_start": 2557,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2481,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000557235.5",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2481G>A",
"hgvs_p": "p.Glu827Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450751.1",
"strand": false,
"transcript": "ENST00000557235.5",
"transcript_support_level": 2
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 847,
"aa_ref": "E",
"aa_start": 827,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4403,
"cdna_start": 2550,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2481,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000922390.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2481G>A",
"hgvs_p": "p.Glu827Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592449.1",
"strand": false,
"transcript": "ENST00000922390.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 846,
"aa_ref": "E",
"aa_start": 826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 2549,
"cds_end": null,
"cds_length": 2541,
"cds_start": 2478,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000878611.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2478G>A",
"hgvs_p": "p.Glu826Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548670.1",
"strand": false,
"transcript": "ENST00000878611.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 844,
"aa_ref": "E",
"aa_start": 824,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4384,
"cdna_start": 2529,
"cds_end": null,
"cds_length": 2535,
"cds_start": 2472,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385114.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2472G>A",
"hgvs_p": "p.Glu824Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372043.1",
"strand": false,
"transcript": "NM_001385114.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 841,
"aa_ref": "E",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 2608,
"cds_end": null,
"cds_length": 2526,
"cds_start": 2463,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000878609.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2463G>A",
"hgvs_p": "p.Glu821Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548668.1",
"strand": false,
"transcript": "ENST00000878609.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 840,
"aa_ref": "E",
"aa_start": 820,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4372,
"cdna_start": 2517,
"cds_end": null,
"cds_length": 2523,
"cds_start": 2460,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385110.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2460G>A",
"hgvs_p": "p.Glu820Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372039.1",
"strand": false,
"transcript": "NM_001385110.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 837,
"aa_ref": "E",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4363,
"cdna_start": 2508,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2451,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001385115.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2451G>A",
"hgvs_p": "p.Glu817Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372044.1",
"strand": false,
"transcript": "NM_001385115.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 837,
"aa_ref": "E",
"aa_start": 817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 2675,
"cds_end": null,
"cds_length": 2514,
"cds_start": 2451,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000960655.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2451G>A",
"hgvs_p": "p.Glu817Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630714.1",
"strand": false,
"transcript": "ENST00000960655.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 818,
"aa_ref": "E",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4306,
"cdna_start": 2451,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2394,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001385111.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2394G>A",
"hgvs_p": "p.Glu798Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001372040.1",
"strand": false,
"transcript": "NM_001385111.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 818,
"aa_ref": "E",
"aa_start": 798,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4319,
"cdna_start": 2475,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2394,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000651915.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2394G>A",
"hgvs_p": "p.Glu798Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498876.1",
"strand": false,
"transcript": "ENST00000651915.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 814,
"aa_ref": "E",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4329,
"cdna_start": 2474,
"cds_end": null,
"cds_length": 2445,
"cds_start": 2382,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000878610.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2382G>A",
"hgvs_p": "p.Glu794Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548669.1",
"strand": false,
"transcript": "ENST00000878610.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 807,
"aa_ref": "E",
"aa_start": 787,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4360,
"cdna_start": 2514,
"cds_end": null,
"cds_length": 2424,
"cds_start": 2361,
"consequences": [
"synonymous_variant"
],
"exon_count": 22,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000698186.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2361G>A",
"hgvs_p": "p.Glu787Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000513598.1",
"strand": false,
"transcript": "ENST00000698186.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 755,
"aa_ref": "E",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 2255,
"cds_end": null,
"cds_length": 2268,
"cds_start": 2205,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000960657.1",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2205G>A",
"hgvs_p": "p.Glu735Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630716.1",
"strand": false,
"transcript": "ENST00000960657.1",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 859,
"aa_ref": "E",
"aa_start": 839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4429,
"cdna_start": 2574,
"cds_end": null,
"cds_length": 2580,
"cds_start": 2517,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011538697.3",
"gene_hgnc_id": 11363,
"gene_symbol": "STAT2",
"hgvs_c": "c.2517G>A",
"hgvs_p": "p.Glu839Glu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011536999.1",
"strand": false,
"transcript": "XM_011538697.3",
"transcript_support_level": null
},
{
"aa_alt": "E",
"aa_end": null,
"aa_length": 855,
"aa_ref": "E",
"aa_start": 835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4417,
"cdna_start": 2562,
"cds_end": null,
"cds_length": 2568,
"cds_start": 2505,
"consequences": [
"synonymous_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "XM_011538698.4",
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