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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: 11-95835305-GA-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=95835305&ref=GA&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 95835305,
"ref": "GA",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_016156.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1916delT",
"hgvs_p": "p.Val639fs",
"transcript": "NM_016156.6",
"protein_id": "NP_057240.3",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 643,
"cds_start": 1916,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000346299.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016156.6"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1916delT",
"hgvs_p": "p.Val639fs",
"transcript": "ENST00000346299.10",
"protein_id": "ENSP00000345752.6",
"transcript_support_level": 1,
"aa_start": 639,
"aa_end": null,
"aa_length": 643,
"cds_start": 1916,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016156.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000346299.10"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "ENST00000352297.11",
"protein_id": "ENSP00000343737.7",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352297.11"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "ENST00000393223.8",
"protein_id": "ENSP00000376915.3",
"transcript_support_level": 1,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393223.8"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1832delT",
"hgvs_p": "p.Val611fs",
"transcript": "NM_001440647.1",
"protein_id": "NP_001427576.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 615,
"cds_start": 1832,
"cds_end": null,
"cds_length": 1848,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440647.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1823delT",
"hgvs_p": "p.Val608fs",
"transcript": "NM_001440648.1",
"protein_id": "NP_001427577.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 612,
"cds_start": 1823,
"cds_end": null,
"cds_length": 1839,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440648.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1730delT",
"hgvs_p": "p.Val577fs",
"transcript": "NM_001440649.1",
"protein_id": "NP_001427578.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 581,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440649.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1730delT",
"hgvs_p": "p.Val577fs",
"transcript": "NM_001440650.1",
"protein_id": "NP_001427579.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 581,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440650.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1730delT",
"hgvs_p": "p.Val577fs",
"transcript": "ENST00000675022.1",
"protein_id": "ENSP00000502722.1",
"transcript_support_level": null,
"aa_start": 577,
"aa_end": null,
"aa_length": 581,
"cds_start": 1730,
"cds_end": null,
"cds_length": 1746,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675022.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1727delT",
"hgvs_p": "p.Val576fs",
"transcript": "NM_001440651.1",
"protein_id": "NP_001427580.1",
"transcript_support_level": null,
"aa_start": 576,
"aa_end": null,
"aa_length": 580,
"cds_start": 1727,
"cds_end": null,
"cds_length": 1743,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440651.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001243571.2",
"protein_id": "NP_001230500.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001243571.2"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001440630.1",
"protein_id": "NP_001427559.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440630.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001440631.1",
"protein_id": "NP_001427560.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440631.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001440632.1",
"protein_id": "NP_001427561.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440632.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001440633.1",
"protein_id": "NP_001427562.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440633.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001440634.1",
"protein_id": "NP_001427563.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440634.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001440635.1",
"protein_id": "NP_001427564.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440635.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001440636.1",
"protein_id": "NP_001427565.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440636.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_001440637.1",
"protein_id": "NP_001427566.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440637.1"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_201278.3",
"protein_id": "NP_958435.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201278.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "NM_201281.3",
"protein_id": "NP_958438.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201281.3"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTMR2",
"gene_hgnc_id": 7450,
"hgvs_c": "c.1700delT",
"hgvs_p": "p.Val567fs",
"transcript": "ENST00000409459.5",
"protein_id": "ENSP00000386882.1",
"transcript_support_level": 5,
"aa_start": 567,
"aa_end": null,
"aa_length": 571,
"cds_start": 1700,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409459.5"
},
{
"aa_ref": "V",
"aa_alt": null,
"canonical": false,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 8.536,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016156.6",
"gene_symbol": "MTMR2",
"hgnc_id": 7450,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1916delT",
"hgvs_p": "p.Val639fs"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease type 4,Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "Charcot-Marie-Tooth disease type 4|Inborn genetic diseases|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}