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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: 16-15737514-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15737514&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15737514,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000300036.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3228G>A",
"hgvs_p": "p.Ala1076Ala",
"transcript": "NM_002474.3",
"protein_id": "NP_002465.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3228,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3333,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "ENST00000300036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3228G>A",
"hgvs_p": "p.Ala1076Ala",
"transcript": "ENST00000300036.6",
"protein_id": "ENSP00000300036.5",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3228,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3333,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "NM_002474.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3249G>A",
"hgvs_p": "p.Ala1083Ala",
"transcript": "NM_001040113.2",
"protein_id": "NP_001035202.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3249,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": "ENST00000452625.7",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3249G>A",
"hgvs_p": "p.Ala1083Ala",
"transcript": "ENST00000452625.7",
"protein_id": "ENSP00000407821.2",
"transcript_support_level": 1,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1945,
"cds_start": 3249,
"cds_end": null,
"cds_length": 5838,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": "NM_001040113.2",
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3249G>A",
"hgvs_p": "p.Ala1083Ala",
"transcript": "ENST00000396324.7",
"protein_id": "ENSP00000379616.3",
"transcript_support_level": 1,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1979,
"cds_start": 3249,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 3337,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3228G>A",
"hgvs_p": "p.Ala1076Ala",
"transcript": "ENST00000576790.7",
"protein_id": "ENSP00000458731.1",
"transcript_support_level": 1,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3228,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 3299,
"cdna_end": null,
"cdna_length": 5907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3249G>A",
"hgvs_p": "p.Ala1083Ala",
"transcript": "NM_001040114.2",
"protein_id": "NP_001035203.1",
"transcript_support_level": null,
"aa_start": 1083,
"aa_end": null,
"aa_length": 1979,
"cds_start": 3249,
"cds_end": null,
"cds_length": 5940,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3228G>A",
"hgvs_p": "p.Ala1076Ala",
"transcript": "ENST00000713757.1",
"protein_id": "ENSP00000519058.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1972,
"cds_start": 3228,
"cds_end": null,
"cds_length": 5919,
"cdna_start": 3462,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.3228G>A",
"hgvs_p": "p.Ala1076Ala",
"transcript": "NM_022844.3",
"protein_id": "NP_074035.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1938,
"cds_start": 3228,
"cds_end": null,
"cds_length": 5817,
"cdna_start": 3333,
"cdna_end": null,
"cdna_length": 6919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "n.*1411G>A",
"hgvs_p": null,
"transcript": "ENST00000652121.1",
"protein_id": "ENSP00000498314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "n.*1411G>A",
"hgvs_p": null,
"transcript": "ENST00000652121.1",
"protein_id": "ENSP00000498314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"dbsnp": "rs773672888",
"frequency_reference_population": 0.00011463257,
"hom_count_reference_population": 0,
"allele_count_reference_population": 185,
"gnomad_exomes_af": 0.000119043,
"gnomad_genomes_af": 0.0000722781,
"gnomad_exomes_ac": 174,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6800000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"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": -0.68,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -4.161,
"phylop100way_prediction": "Benign",
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000300036.6",
"gene_symbol": "MYH11",
"hgnc_id": 7569,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.3228G>A",
"hgvs_p": "p.Ala1076Ala"
}
],
"clinvar_disease": " familial thoracic 4,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4 B:2",
"phenotype_combined": "Aortic aneurysm, familial thoracic 4|Familial thoracic aortic aneurysm and aortic dissection|not specified|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}