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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: 3-38846799-ACCTTGGTCAC-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38846799&ref=ACCTTGGTCAC&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38846799,
"ref": "ACCTTGGTCAC",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000302328.9",
"consequences": [
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.5261_5270delGTGACCAAGG",
"hgvs_p": "p.Gly1754fs",
"transcript": "NM_001349253.2",
"protein_id": "NP_001336182.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5261,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5757,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": "ENST00000302328.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.5261_5270delGTGACCAAGG",
"hgvs_p": "p.Gly1754fs",
"transcript": "ENST00000302328.9",
"protein_id": "ENSP00000307599.3",
"transcript_support_level": 5,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5261,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5757,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": "NM_001349253.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.5261_5270delGTGACCAAGG",
"hgvs_p": "p.Gly1754fs",
"transcript": "NM_014139.3",
"protein_id": "NP_054858.2",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5261,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5469,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.5261_5270delGTGACCAAGG",
"hgvs_p": "p.Gly1754fs",
"transcript": "ENST00000668754.1",
"protein_id": "ENSP00000499569.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5261,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 6254,
"cdna_end": null,
"cdna_length": 7285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.5147_5156delGTGACCAAGG",
"hgvs_p": "p.Gly1716fs",
"transcript": "ENST00000456224.7",
"protein_id": "ENSP00000416757.3",
"transcript_support_level": 5,
"aa_start": 1716,
"aa_end": null,
"aa_length": 1753,
"cds_start": 5147,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 5156,
"cdna_end": null,
"cdna_length": 5262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.5081_5090delGTGACCAAGG",
"hgvs_p": "p.Gly1694fs",
"transcript": "ENST00000675892.1",
"protein_id": "ENSP00000502318.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 1731,
"cds_start": 5081,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 5090,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.4880_4889delGTGACCAAGG",
"hgvs_p": "p.Gly1627fs",
"transcript": "ENST00000676176.1",
"protein_id": "ENSP00000501891.1",
"transcript_support_level": null,
"aa_start": 1627,
"aa_end": null,
"aa_length": 1664,
"cds_start": 4880,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 4889,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.5636_5645delGTGACCAAGG",
"hgvs_p": "p.Gly1879fs",
"transcript": "XM_047447378.1",
"protein_id": "XP_047303334.1",
"transcript_support_level": null,
"aa_start": 1879,
"aa_end": null,
"aa_length": 1916,
"cds_start": 5636,
"cds_end": null,
"cds_length": 5751,
"cdna_start": 5871,
"cdna_end": null,
"cdna_length": 6907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.5261_5270delGTGACCAAGG",
"hgvs_p": "p.Gly1754fs",
"transcript": "XM_017005650.2",
"protein_id": "XP_016861139.1",
"transcript_support_level": null,
"aa_start": 1754,
"aa_end": null,
"aa_length": 1791,
"cds_start": 5261,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5638,
"cdna_end": null,
"cdna_length": 6674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.4988_4997delGTGACCAAGG",
"hgvs_p": "p.Gly1663fs",
"transcript": "XM_017005651.2",
"protein_id": "XP_016861140.1",
"transcript_support_level": null,
"aa_start": 1663,
"aa_end": null,
"aa_length": 1700,
"cds_start": 4988,
"cds_end": null,
"cds_length": 5103,
"cdna_start": 5513,
"cdna_end": null,
"cdna_length": 6549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.4598_4607delGTGACCAAGG",
"hgvs_p": "p.Gly1533fs",
"transcript": "XM_011533321.3",
"protein_id": "XP_011531623.1",
"transcript_support_level": null,
"aa_start": 1533,
"aa_end": null,
"aa_length": 1570,
"cds_start": 4598,
"cds_end": null,
"cds_length": 4713,
"cdna_start": 4694,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "GDQG",
"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": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "c.3665_3674delGTGACCAAGG",
"hgvs_p": "p.Gly1222fs",
"transcript": "XM_017005653.2",
"protein_id": "XP_016861142.1",
"transcript_support_level": null,
"aa_start": 1222,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3665,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4092,
"cdna_end": null,
"cdna_length": 5128,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "n.*1005_*1014delGTGACCAAGG",
"hgvs_p": null,
"transcript": "ENST00000675223.1",
"protein_id": "ENSP00000502481.1",
"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": 5455,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "n.*2432_*2441delGTGACCAAGG",
"hgvs_p": null,
"transcript": "ENST00000675672.1",
"protein_id": "ENSP00000502446.1",
"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": 5430,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "n.*4978_*4987delGTGACCAAGG",
"hgvs_p": null,
"transcript": "ENST00000676045.1",
"protein_id": "ENSP00000501685.1",
"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": 5420,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "n.*1005_*1014delGTGACCAAGG",
"hgvs_p": null,
"transcript": "ENST00000675223.1",
"protein_id": "ENSP00000502481.1",
"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": 5455,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "n.*2432_*2441delGTGACCAAGG",
"hgvs_p": null,
"transcript": "ENST00000675672.1",
"protein_id": "ENSP00000502446.1",
"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": 5430,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"hgvs_c": "n.*4978_*4987delGTGACCAAGG",
"hgvs_p": null,
"transcript": "ENST00000676045.1",
"protein_id": "ENSP00000501685.1",
"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": 5420,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SCN11A",
"gene_hgnc_id": 10583,
"dbsnp": "rs774589923",
"frequency_reference_population": 0.0000075245575,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000752456,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 11,
"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": 0.581,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000302328.9",
"gene_symbol": "SCN11A",
"hgnc_id": 10583,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.5261_5270delGTGACCAAGG",
"hgvs_p": "p.Gly1754fs"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}