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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: 1-11108177-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11108177&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"PP3",
"BP6_Moderate",
"BS1",
"BS2"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "MTOR",
"hgnc_id": 3942,
"hgvs_c": "c.7634+4A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -9,
"transcript": "NM_004958.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Moderate,BS1,BS2",
"acmg_score": -9,
"allele_count_reference_population": 27,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "1",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.30000001192092896,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 2549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8721,
"cdna_start": null,
"cds_end": null,
"cds_length": 7650,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_004958.4",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7634+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8721,
"cdna_start": null,
"cds_end": null,
"cds_length": 7650,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361445.9",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7634+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2567,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8728,
"cdna_start": null,
"cds_end": null,
"cds_length": 7704,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934315.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7688+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2556,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8722,
"cdna_start": null,
"cds_end": null,
"cds_length": 7671,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934312.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7655+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8748,
"cdna_start": null,
"cds_end": null,
"cds_length": 7650,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386500.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7634+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8929,
"cdna_start": null,
"cds_end": null,
"cds_length": 7650,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703143.2",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7634+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8741,
"cdna_start": null,
"cds_end": null,
"cds_length": 7650,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934310.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7634+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2549,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8937,
"cdna_start": null,
"cds_end": null,
"cds_length": 7650,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934314.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7634+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2546,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8700,
"cdna_start": null,
"cds_end": null,
"cds_length": 7641,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875524.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7625+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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": null,
"aa_end": null,
"aa_length": 2537,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8651,
"cdna_start": null,
"cds_end": null,
"cds_length": 7614,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 58,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000875525.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7598+4A>G",
"hgvs_p": null,
"intron_rank": 57,
"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
},
{
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"aa_end": null,
"aa_length": 2520,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8621,
"cdna_start": null,
"cds_end": null,
"cds_length": 7563,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934311.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7547+4A>G",
"hgvs_p": null,
"intron_rank": 56,
"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
},
{
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"aa_length": 2478,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8487,
"cdna_start": null,
"cds_end": null,
"cds_length": 7437,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 56,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703140.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7421+4A>G",
"hgvs_p": null,
"intron_rank": 55,
"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
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8483,
"cdna_start": null,
"cds_end": null,
"cds_length": 7434,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934313.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.7418+4A>G",
"hgvs_p": null,
"intron_rank": 56,
"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": null,
"aa_end": null,
"aa_length": 2133,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8612,
"cdna_start": null,
"cds_end": null,
"cds_length": 6402,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001386501.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.6386+4A>G",
"hgvs_p": null,
"intron_rank": 56,
"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
},
{
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"aa_length": 2322,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8184,
"cdna_start": null,
"cds_end": null,
"cds_length": 6969,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 55,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017000900.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.6953+4A>G",
"hgvs_p": null,
"intron_rank": 54,
"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": null,
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"aa_length": 1794,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6416,
"cdna_start": null,
"cds_end": null,
"cds_length": 5385,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 46,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047416724.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "c.5369+4A>G",
"hgvs_p": null,
"intron_rank": 45,
"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,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4017,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
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"feature": "ENST00000376838.5",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "n.3051+4A>G",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000376838.5",
"transcript_support_level": 2
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000473471.5",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "n.646+4A>G",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000473471.5",
"transcript_support_level": 3
},
{
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"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1111,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000490931.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "n.917+4A>G",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000490931.1",
"transcript_support_level": 5
},
{
"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": 8528,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 57,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000703118.1",
"gene_hgnc_id": 3942,
"gene_symbol": "MTOR",
"hgvs_c": "n.*3009+4A>G",
"hgvs_p": null,
"intron_rank": 56,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000515181.1",
"strand": false,
"transcript": "ENST00000703118.1",
"transcript_support_level": null
},
{
"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": 4193,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 28,
"exon_rank": null,
"exon_rank_end": null,
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