← 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: 6-132472372-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=132472372&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 132472372,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_003569.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "NM_003569.3",
"protein_id": "NP_003560.2",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 15845,
"mane_select": "ENST00000367941.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003569.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "ENST00000367941.7",
"protein_id": "ENSP00000356918.1",
"transcript_support_level": 1,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 15845,
"mane_select": "NM_003569.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367941.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "NM_001326578.2",
"protein_id": "NP_001313507.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 474,
"cdna_end": null,
"cdna_length": 15992,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326578.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "NM_001326579.2",
"protein_id": "NP_001313508.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 273,
"cdna_end": null,
"cdna_length": 15791,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326579.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "ENST00000862289.1",
"protein_id": "ENSP00000532348.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 9304,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862289.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "ENST00000862290.1",
"protein_id": "ENSP00000532349.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 472,
"cdna_end": null,
"cdna_length": 3942,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862290.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "ENST00000862291.1",
"protein_id": "ENSP00000532350.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862291.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "ENST00000862293.1",
"protein_id": "ENSP00000532352.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 362,
"cdna_end": null,
"cdna_length": 1164,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862293.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "ENST00000942369.1",
"protein_id": "ENSP00000612428.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 261,
"cds_start": 159,
"cds_end": null,
"cds_length": 786,
"cdna_start": 276,
"cdna_end": null,
"cdna_length": 2147,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942369.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "NM_001326580.2",
"protein_id": "NP_001313509.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 239,
"cds_start": 159,
"cds_end": null,
"cds_length": 720,
"cdna_start": 327,
"cdna_end": null,
"cdna_length": 1248,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001326580.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "ENST00000367937.4",
"protein_id": "ENSP00000356914.4",
"transcript_support_level": 5,
"aa_start": 53,
"aa_end": null,
"aa_length": 239,
"cds_start": 159,
"cds_end": null,
"cds_length": 720,
"cdna_start": 409,
"cdna_end": null,
"cdna_length": 1090,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367937.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln",
"transcript": "ENST00000942368.1",
"protein_id": "ENSP00000612427.1",
"transcript_support_level": null,
"aa_start": 53,
"aa_end": null,
"aa_length": 209,
"cds_start": 159,
"cds_end": null,
"cds_length": 630,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942368.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "c.86-8297A>G",
"hgvs_p": null,
"transcript": "ENST00000862292.1",
"protein_id": "ENSP00000532351.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 86,
"cds_start": null,
"cds_end": null,
"cds_length": 261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1659,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862292.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "n.221A>G",
"hgvs_p": null,
"transcript": "ENST00000448348.3",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 556,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000448348.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"hgvs_c": "n.327A>G",
"hgvs_p": null,
"transcript": "NR_137169.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 15772,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_137169.2"
}
],
"gene_symbol": "STX7",
"gene_hgnc_id": 11442,
"dbsnp": "rs864309676",
"frequency_reference_population": 6.8648785e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.86488e-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": -0.6299999952316284,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.27000001072883606,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.325,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.27,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003569.3",
"gene_symbol": "STX7",
"hgnc_id": 11442,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.159A>G",
"hgvs_p": "p.Gln53Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}