← Back to variant description
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: 16-15759732-C-CAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=15759732&ref=C&alt=CAG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 15759732,
"ref": "C",
"alt": "CAG",
"effect": "splice_region_variant,intron_variant",
"transcript": "ENST00000300036.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1249-6_1249-5dupCT",
"hgvs_p": null,
"transcript": "NM_002474.3",
"protein_id": "NP_002465.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1972,
"cds_start": -4,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "ENST00000300036.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1249-5_1249-4insCT",
"hgvs_p": null,
"transcript": "ENST00000300036.6",
"protein_id": "ENSP00000300036.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1972,
"cds_start": -4,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6880,
"mane_select": "NM_002474.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1270-6_1270-5dupCT",
"hgvs_p": null,
"transcript": "NM_001040113.2",
"protein_id": "NP_001035202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1945,
"cds_start": -4,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": "ENST00000452625.7",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1270-5_1270-4insCT",
"hgvs_p": null,
"transcript": "ENST00000452625.7",
"protein_id": "ENSP00000407821.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1945,
"cds_start": -4,
"cds_end": null,
"cds_length": 5838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6940,
"mane_select": null,
"mane_plus": "NM_001040113.2",
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1270-5_1270-4insCT",
"hgvs_p": null,
"transcript": "ENST00000396324.7",
"protein_id": "ENSP00000379616.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1979,
"cds_start": -4,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1249-5_1249-4insCT",
"hgvs_p": null,
"transcript": "ENST00000576790.7",
"protein_id": "ENSP00000458731.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1938,
"cds_start": -4,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1270-6_1270-5dupCT",
"hgvs_p": null,
"transcript": "NM_001040114.2",
"protein_id": "NP_001035203.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1979,
"cds_start": -4,
"cds_end": null,
"cds_length": 5940,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1249-5_1249-4insCT",
"hgvs_p": null,
"transcript": "ENST00000713757.1",
"protein_id": "ENSP00000519058.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1972,
"cds_start": -4,
"cds_end": null,
"cds_length": 5919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "c.1249-6_1249-5dupCT",
"hgvs_p": null,
"transcript": "NM_022844.3",
"protein_id": "NP_074035.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1938,
"cds_start": -4,
"cds_end": null,
"cds_length": 5817,
"cdna_start": null,
"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": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "n.1671-5_1671-4insCT",
"hgvs_p": null,
"transcript": "ENST00000570785.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 3450,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"hgvs_c": "n.1249-5_1249-4insCT",
"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": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124903650",
"gene_hgnc_id": null,
"hgvs_c": "n.*5_*6insAG",
"hgvs_p": null,
"transcript": "XR_007065004.1",
"protein_id": null,
"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": 700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MYH11",
"gene_hgnc_id": 7569,
"dbsnp": "rs770987711",
"frequency_reference_population": 6.841237e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84124e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.817,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP6",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000300036.6",
"gene_symbol": "MYH11",
"hgnc_id": 7569,
"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1249-5_1249-4insCT",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007065004.1",
"gene_symbol": "LOC124903650",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*5_*6insAG",
"hgvs_p": null
}
],
"clinvar_disease": " familial thoracic 4,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Aortic aneurysm, familial thoracic 4|not provided|Familial thoracic aortic aneurysm and aortic dissection",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}