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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: 16-15726937-G-GCTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15726937&ref=G&alt=GCTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4_Supporting"
],
"effects": [
"conservative_inframe_insertion"
],
"gene_symbol": "MYH11",
"hgnc_id": 7569,
"hgvs_c": "c.3787_3789dupAAG",
"hgvs_p": "p.Lys1263dup",
"inheritance_mode": "AD,AR,Unknown",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001040114.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "NDE1",
"hgnc_id": 17619,
"hgvs_c": "c.*2514_*2516dupCTT",
"hgvs_p": null,
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000674995.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000263335",
"hgnc_id": null,
"hgvs_c": "n.274_276dupCTT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "ENST00000574212.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_score": 3,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GCTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6880,
"cdna_start": 3873,
"cds_end": null,
"cds_length": 5919,
"cds_start": 3768,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_002474.3",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3766_3768dupAAG",
"hgvs_p": "p.Lys1256dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000300036.6",
"protein_coding": true,
"protein_id": "NP_002465.1",
"strand": false,
"transcript": "NM_002474.3",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6880,
"cdna_start": 3873,
"cds_end": null,
"cds_length": 5919,
"cds_start": 3768,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000300036.6",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3766_3768dupAAG",
"hgvs_p": "p.Lys1256dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002474.3",
"protein_coding": true,
"protein_id": "ENSP00000300036.5",
"strand": false,
"transcript": "ENST00000300036.6",
"transcript_support_level": 1
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "K",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 3894,
"cds_end": null,
"cds_length": 5838,
"cds_start": 3789,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 43,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001040113.2",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3787_3789dupAAG",
"hgvs_p": "p.Lys1263dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "ENST00000452625.7",
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035202.1",
"strand": false,
"transcript": "NM_001040113.2",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1945,
"aa_ref": "K",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6940,
"cdna_start": 3894,
"cds_end": null,
"cds_length": 5838,
"cds_start": 3789,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 43,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000452625.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3787_3789dupAAG",
"hgvs_p": "p.Lys1263dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": "NM_001040113.2",
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407821.2",
"strand": false,
"transcript": "ENST00000452625.7",
"transcript_support_level": 1
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1979,
"aa_ref": "K",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6847,
"cdna_start": 3877,
"cds_end": null,
"cds_length": 5940,
"cds_start": 3789,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 42,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000396324.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3787_3789dupAAG",
"hgvs_p": "p.Lys1263dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379616.3",
"strand": false,
"transcript": "ENST00000396324.7",
"transcript_support_level": 1
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1938,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5907,
"cdna_start": 3839,
"cds_end": null,
"cds_length": 5817,
"cds_start": 3768,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 42,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000576790.7",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3766_3768dupAAG",
"hgvs_p": "p.Lys1256dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458731.1",
"strand": false,
"transcript": "ENST00000576790.7",
"transcript_support_level": 1
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "K",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6139,
"cdna_start": 3923,
"cds_end": null,
"cds_length": 5967,
"cds_start": 3816,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 42,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000911137.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3814_3816dupAAG",
"hgvs_p": "p.Lys1272dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581196.1",
"strand": false,
"transcript": "ENST00000911137.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1985,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6130,
"cdna_start": 3875,
"cds_end": null,
"cds_length": 5958,
"cds_start": 3768,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000911136.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3766_3768dupAAG",
"hgvs_p": "p.Lys1256dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581195.1",
"strand": false,
"transcript": "ENST00000911136.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "K",
"aa_start": 1265,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6078,
"cdna_start": 3899,
"cds_end": null,
"cds_length": 5946,
"cds_start": 3795,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 42,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000963704.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3793_3795dupAAG",
"hgvs_p": "p.Lys1265dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633763.1",
"strand": false,
"transcript": "ENST00000963704.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1979,
"aa_ref": "K",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6901,
"cdna_start": 3894,
"cds_end": null,
"cds_length": 5940,
"cds_start": 3789,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 42,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "NM_001040114.2",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3787_3789dupAAG",
"hgvs_p": "p.Lys1263dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035203.1",
"strand": false,
"transcript": "NM_001040114.2",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1977,
"aa_ref": "K",
"aa_start": 1263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6890,
"cdna_start": 3896,
"cds_end": null,
"cds_length": 5934,
"cds_start": 3789,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 42,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000911133.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3787_3789dupAAG",
"hgvs_p": "p.Lys1263dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581192.1",
"strand": false,
"transcript": "ENST00000911133.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7006,
"cdna_start": 4002,
"cds_end": null,
"cds_length": 5919,
"cds_start": 3768,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000713757.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3766_3768dupAAG",
"hgvs_p": "p.Lys1256dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519058.1",
"strand": false,
"transcript": "ENST00000713757.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6335,
"cdna_start": 4119,
"cds_end": null,
"cds_length": 5919,
"cds_start": 3768,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000911134.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3766_3768dupAAG",
"hgvs_p": "p.Lys1256dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581193.1",
"strand": false,
"transcript": "ENST00000911134.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7084,
"cdna_start": 4077,
"cds_end": null,
"cds_length": 5919,
"cds_start": 3768,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000911140.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3766_3768dupAAG",
"hgvs_p": "p.Lys1256dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581199.1",
"strand": false,
"transcript": "ENST00000911140.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1972,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6894,
"cdna_start": 3891,
"cds_end": null,
"cds_length": 5919,
"cds_start": 3768,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000963701.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3766_3768dupAAG",
"hgvs_p": "p.Lys1256dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633760.1",
"strand": false,
"transcript": "ENST00000963701.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1963,
"aa_ref": "K",
"aa_start": 1247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6856,
"cdna_start": 3849,
"cds_end": null,
"cds_length": 5892,
"cds_start": 3741,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000963702.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3739_3741dupAAG",
"hgvs_p": "p.Lys1247dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633761.1",
"strand": false,
"transcript": "ENST00000963702.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1941,
"aa_ref": "K",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5998,
"cdna_start": 3782,
"cds_end": null,
"cds_length": 5826,
"cds_start": 3675,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 41,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000911139.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3673_3675dupAAG",
"hgvs_p": "p.Lys1225dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581198.1",
"strand": false,
"transcript": "ENST00000911139.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1941,
"aa_ref": "K",
"aa_start": 1225,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5959,
"cdna_start": 3780,
"cds_end": null,
"cds_length": 5826,
"cds_start": 3675,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 40,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000963703.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3673_3675dupAAG",
"hgvs_p": "p.Lys1225dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633762.1",
"strand": false,
"transcript": "ENST00000963703.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1940,
"aa_ref": "K",
"aa_start": 1224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5995,
"cdna_start": 3779,
"cds_end": null,
"cds_length": 5823,
"cds_start": 3672,
"consequences": [
"conservative_inframe_insertion"
],
"exon_count": 40,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000911138.1",
"gene_hgnc_id": 7569,
"gene_symbol": "MYH11",
"hgvs_c": "c.3670_3672dupAAG",
"hgvs_p": "p.Lys1224dup",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581197.1",
"strand": false,
"transcript": "ENST00000911138.1",
"transcript_support_level": null
},
{
"aa_alt": "KK",
"aa_end": null,
"aa_length": 1938,
"aa_ref": "K",
"aa_start": 1256,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6919,
"cdna_start": 3873,
"cds_end": null,
"cds_length": 5817,
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