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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: 1-11144696-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11144696&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MTOR",
"hgnc_id": 3942,
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_004958.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "MTOR-AS1",
"hgnc_id": 40242,
"hgvs_c": "n.88G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000420480.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate,BP7",
"acmg_score": -3,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.41999998688697815,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2549,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8721,
"cdna_start": 4945,
"cds_end": null,
"cds_length": 7650,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_004958.4",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361445.9",
"protein_coding": true,
"protein_id": "NP_004949.1",
"strand": false,
"transcript": "NM_004958.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2549,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8721,
"cdna_start": 4945,
"cds_end": null,
"cds_length": 7650,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000361445.9",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004958.4",
"protein_coding": true,
"protein_id": "ENSP00000354558.4",
"strand": false,
"transcript": "ENST00000361445.9",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2567,
"aa_ref": "V",
"aa_start": 1626,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8728,
"cdna_start": 4954,
"cds_end": null,
"cds_length": 7704,
"cds_start": 4878,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000934315.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4878C>T",
"hgvs_p": "p.Val1626Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604374.1",
"strand": false,
"transcript": "ENST00000934315.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2556,
"aa_ref": "V",
"aa_start": 1615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8722,
"cdna_start": 4950,
"cds_end": null,
"cds_length": 7671,
"cds_start": 4845,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000934312.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4845C>T",
"hgvs_p": "p.Val1615Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604371.1",
"strand": false,
"transcript": "ENST00000934312.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2549,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8748,
"cdna_start": 4972,
"cds_end": null,
"cds_length": 7650,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "NM_001386500.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373429.1",
"strand": false,
"transcript": "NM_001386500.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2549,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8929,
"cdna_start": 5153,
"cds_end": null,
"cds_length": 7650,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000703143.2",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515200.2",
"strand": false,
"transcript": "ENST00000703143.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2549,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8741,
"cdna_start": 4961,
"cds_end": null,
"cds_length": 7650,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000934310.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604369.1",
"strand": false,
"transcript": "ENST00000934310.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2549,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8937,
"cdna_start": 5165,
"cds_end": null,
"cds_length": 7650,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000934314.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604373.1",
"strand": false,
"transcript": "ENST00000934314.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2546,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8700,
"cdna_start": 4933,
"cds_end": null,
"cds_length": 7641,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000875524.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545583.1",
"strand": false,
"transcript": "ENST00000875524.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2537,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8651,
"cdna_start": 4911,
"cds_end": null,
"cds_length": 7614,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 58,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000875525.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000545584.1",
"strand": false,
"transcript": "ENST00000875525.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2520,
"aa_ref": "V",
"aa_start": 1579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8621,
"cdna_start": 4845,
"cds_end": null,
"cds_length": 7563,
"cds_start": 4737,
"consequences": [
"synonymous_variant"
],
"exon_count": 57,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000934311.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4737C>T",
"hgvs_p": "p.Val1579Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604370.1",
"strand": false,
"transcript": "ENST00000934311.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2478,
"aa_ref": "V",
"aa_start": 1537,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8487,
"cdna_start": 4711,
"cds_end": null,
"cds_length": 7437,
"cds_start": 4611,
"consequences": [
"synonymous_variant"
],
"exon_count": 56,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000703140.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4611C>T",
"hgvs_p": "p.Val1537Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515197.1",
"strand": false,
"transcript": "ENST00000703140.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2477,
"aa_ref": "V",
"aa_start": 1536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8483,
"cdna_start": 4709,
"cds_end": null,
"cds_length": 7434,
"cds_start": 4608,
"consequences": [
"synonymous_variant"
],
"exon_count": 57,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000934313.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4608C>T",
"hgvs_p": "p.Val1536Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604372.1",
"strand": false,
"transcript": "ENST00000934313.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2133,
"aa_ref": "V",
"aa_start": 1192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8612,
"cdna_start": 4836,
"cds_end": null,
"cds_length": 6402,
"cds_start": 3576,
"consequences": [
"synonymous_variant"
],
"exon_count": 57,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_001386501.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.3576C>T",
"hgvs_p": "p.Val1192Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373430.1",
"strand": false,
"transcript": "NM_001386501.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2328,
"aa_ref": "V",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7207,
"cdna_start": 4945,
"cds_end": null,
"cds_length": 6987,
"cds_start": 4824,
"consequences": [
"synonymous_variant"
],
"exon_count": 51,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_047416721.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4824C>T",
"hgvs_p": "p.Val1608Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272677.1",
"strand": false,
"transcript": "XM_047416721.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2322,
"aa_ref": "V",
"aa_start": 1381,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8184,
"cdna_start": 4408,
"cds_end": null,
"cds_length": 6969,
"cds_start": 4143,
"consequences": [
"synonymous_variant"
],
"exon_count": 55,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_017000900.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.4143C>T",
"hgvs_p": "p.Val1381Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016856389.1",
"strand": false,
"transcript": "XM_017000900.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1794,
"aa_ref": "V",
"aa_start": 853,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6416,
"cdna_start": 2640,
"cds_end": null,
"cds_length": 5385,
"cds_start": 2559,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "XM_047416724.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.2559C>T",
"hgvs_p": "p.Val853Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272680.1",
"strand": false,
"transcript": "XM_047416724.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 673,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000420480.1",
"gene_hgnc_id": 40242,
"gene_symbol": "MTOR-AS1",
"hgvs_c": "n.88G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000420480.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 705,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000445982.5",
"gene_hgnc_id": 40242,
"gene_symbol": "MTOR-AS1",
"hgvs_c": "n.120G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000445982.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000495435.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "n.330C>T",
"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": "ENST00000495435.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
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