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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: 3-179416531-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=179416531&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 179416531,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000232564.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "NM_021629.4",
"protein_id": "NP_067642.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": "ENST00000232564.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000232564.8",
"protein_id": "ENSP00000232564.3",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 396,
"cdna_end": null,
"cdna_length": 6315,
"mane_select": "NM_021629.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000466899.6",
"protein_id": "ENSP00000420066.2",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 242,
"cds_start": 229,
"cds_end": null,
"cds_length": 729,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 1170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000674862.1",
"protein_id": "ENSP00000502628.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 379,
"cdna_end": null,
"cdna_length": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000676128.1",
"protein_id": "ENSP00000501882.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 493,
"cdna_end": null,
"cdna_length": 6386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.190G>A",
"hgvs_p": "p.Gly64Arg",
"transcript": "ENST00000468623.6",
"protein_id": "ENSP00000419693.2",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 327,
"cds_start": 190,
"cds_end": null,
"cds_length": 984,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 984,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000675901.1",
"protein_id": "ENSP00000501992.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 322,
"cds_start": 229,
"cds_end": null,
"cds_length": 969,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000674927.1",
"protein_id": "ENSP00000501774.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 306,
"cds_start": 229,
"cds_end": null,
"cds_length": 921,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 1696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Gly41Arg",
"transcript": "ENST00000674713.1",
"protein_id": "ENSP00000502144.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 304,
"cds_start": 121,
"cds_end": null,
"cds_length": 915,
"cdna_start": 402,
"cdna_end": null,
"cdna_length": 1196,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000465153.2",
"protein_id": "ENSP00000502010.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 245,
"cds_start": 229,
"cds_end": null,
"cds_length": 738,
"cdna_start": 229,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "ENST00000497513.1",
"protein_id": "ENSP00000420606.1",
"transcript_support_level": 4,
"aa_start": 77,
"aa_end": null,
"aa_length": 78,
"cds_start": 229,
"cds_end": null,
"cds_length": 239,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "XM_005247692.3",
"protein_id": "XP_005247749.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 3913,
"cdna_end": null,
"cdna_length": 9832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "XM_006713721.3",
"protein_id": "XP_006713784.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 6428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "XM_047448653.1",
"protein_id": "XP_047304609.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg",
"transcript": "XM_047448654.1",
"protein_id": "XP_047304610.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 340,
"cds_start": 229,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 505,
"cdna_end": null,
"cdna_length": 6424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "GNB4",
"gene_hgnc_id": 20731,
"dbsnp": "rs1553851490",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.860271692276001,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.598,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9998,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.798,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.5,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000232564.8",
"gene_symbol": "GNB4",
"hgnc_id": 20731,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.229G>A",
"hgvs_p": "p.Gly77Arg"
}
],
"clinvar_disease": "Charcot-Marie-Tooth disease dominant intermediate F",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Charcot-Marie-Tooth disease dominant intermediate F",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}