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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: 3-38847592-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=38847592&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 38847592,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000302328.9",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4478C>T",
"hgvs_p": "p.Ser1493Leu",
"transcript": "NM_001349253.2",
"protein_id": "NP_001336182.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4478,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4965,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": "ENST00000302328.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4478C>T",
"hgvs_p": "p.Ser1493Leu",
"transcript": "ENST00000302328.9",
"protein_id": "ENSP00000307599.3",
"transcript_support_level": 5,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4478,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4965,
"cdna_end": null,
"cdna_length": 6793,
"mane_select": "NM_001349253.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4478C>T",
"hgvs_p": "p.Ser1493Leu",
"transcript": "NM_014139.3",
"protein_id": "NP_054858.2",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4478,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4677,
"cdna_end": null,
"cdna_length": 6505,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4478C>T",
"hgvs_p": "p.Ser1493Leu",
"transcript": "ENST00000668754.1",
"protein_id": "ENSP00000499569.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4478,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 5462,
"cdna_end": null,
"cdna_length": 7285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4364C>T",
"hgvs_p": "p.Ser1455Leu",
"transcript": "ENST00000456224.7",
"protein_id": "ENSP00000416757.3",
"transcript_support_level": 5,
"aa_start": 1455,
"aa_end": null,
"aa_length": 1753,
"cds_start": 4364,
"cds_end": null,
"cds_length": 5262,
"cdna_start": 4364,
"cdna_end": null,
"cdna_length": 5262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4298C>T",
"hgvs_p": "p.Ser1433Leu",
"transcript": "ENST00000675892.1",
"protein_id": "ENSP00000502318.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1731,
"cds_start": 4298,
"cds_end": null,
"cds_length": 5196,
"cdna_start": 4298,
"cdna_end": null,
"cdna_length": 5196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4097C>T",
"hgvs_p": "p.Ser1366Leu",
"transcript": "ENST00000676176.1",
"protein_id": "ENSP00000501891.1",
"transcript_support_level": null,
"aa_start": 1366,
"aa_end": null,
"aa_length": 1664,
"cds_start": 4097,
"cds_end": null,
"cds_length": 4995,
"cdna_start": 4097,
"cdna_end": null,
"cdna_length": 4995,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4853C>T",
"hgvs_p": "p.Ser1618Leu",
"transcript": "XM_047447378.1",
"protein_id": "XP_047303334.1",
"transcript_support_level": null,
"aa_start": 1618,
"aa_end": null,
"aa_length": 1916,
"cds_start": 4853,
"cds_end": null,
"cds_length": 5751,
"cdna_start": 5079,
"cdna_end": null,
"cdna_length": 6907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4478C>T",
"hgvs_p": "p.Ser1493Leu",
"transcript": "XM_017005650.2",
"protein_id": "XP_016861139.1",
"transcript_support_level": null,
"aa_start": 1493,
"aa_end": null,
"aa_length": 1791,
"cds_start": 4478,
"cds_end": null,
"cds_length": 5376,
"cdna_start": 4846,
"cdna_end": null,
"cdna_length": 6674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.4205C>T",
"hgvs_p": "p.Ser1402Leu",
"transcript": "XM_017005651.2",
"protein_id": "XP_016861140.1",
"transcript_support_level": null,
"aa_start": 1402,
"aa_end": null,
"aa_length": 1700,
"cds_start": 4205,
"cds_end": null,
"cds_length": 5103,
"cdna_start": 4721,
"cdna_end": null,
"cdna_length": 6549,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.3815C>T",
"hgvs_p": "p.Ser1272Leu",
"transcript": "XM_011533321.3",
"protein_id": "XP_011531623.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1570,
"cds_start": 3815,
"cds_end": null,
"cds_length": 4713,
"cdna_start": 3902,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.2882C>T",
"hgvs_p": "p.Ser961Leu",
"transcript": "XM_017005653.2",
"protein_id": "XP_016861142.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1259,
"cds_start": 2882,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3300,
"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.*222C>T",
"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.*1649C>T",
"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.*4195C>T",
"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.*222C>T",
"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.*1649C>T",
"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.*4195C>T",
"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": "rs374311646",
"frequency_reference_population": 0.000052664385,
"hom_count_reference_population": 1,
"allele_count_reference_population": 85,
"gnomad_exomes_af": 0.0000560935,
"gnomad_genomes_af": 0.0000197176,
"gnomad_exomes_ac": 82,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9232006072998047,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.898,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8115,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.993,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PP3_Moderate",
"BS1_Supporting",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000302328.9",
"gene_symbol": "SCN11A",
"hgnc_id": 10583,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4478C>T",
"hgvs_p": "p.Ser1493Leu"
}
],
"clinvar_disease": "Familial episodic pain syndrome with predominantly lower limb involvement,Hereditary sensory and autonomic neuropathy type 7",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Hereditary sensory and autonomic neuropathy type 7;Familial episodic pain syndrome with predominantly lower limb involvement",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}