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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: 12-57249162-T-TTCTTCC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=57249162&ref=T&alt=TTCTTCC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 57249162,
"ref": "T",
"alt": "TTCTTCC",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000332782.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "EEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.207_212dupGGAAGA",
"hgvs_p": "p.Glu70_Glu71dup",
"transcript": "NM_145064.3",
"protein_id": "NP_659501.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 364,
"cds_start": 212,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": "ENST00000332782.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEE",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.207_212dupGGAAGA",
"hgvs_p": "p.Glu70_Glu71dup",
"transcript": "ENST00000332782.7",
"protein_id": "ENSP00000329200.2",
"transcript_support_level": 2,
"aa_start": 71,
"aa_end": null,
"aa_length": 364,
"cds_start": 212,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1645,
"mane_select": "NM_145064.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.90_95dupGGAAGA",
"hgvs_p": "p.Glu31_Glu32dup",
"transcript": "ENST00000554578.5",
"protein_id": "ENSP00000452068.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 325,
"cds_start": 95,
"cds_end": null,
"cds_length": 978,
"cdna_start": 338,
"cdna_end": null,
"cdna_length": 1580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "n.-126-970_-126-965dupGGAAGA",
"hgvs_p": null,
"transcript": "ENST00000557176.5",
"protein_id": "ENSP00000450740.1",
"transcript_support_level": 1,
"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": 1143,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.90_95dupGGAAGA",
"hgvs_p": "p.Glu31_Glu32dup",
"transcript": "NM_001286256.2",
"protein_id": "NP_001273185.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 325,
"cds_start": 95,
"cds_end": null,
"cds_length": 978,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 1578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.207_212dupGGAAGA",
"hgvs_p": "p.Glu70_Glu71dup",
"transcript": "ENST00000553489.1",
"protein_id": "ENSP00000452299.1",
"transcript_support_level": 5,
"aa_start": 71,
"aa_end": null,
"aa_length": 167,
"cds_start": 212,
"cds_end": null,
"cds_length": 505,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.207_212dupGGAAGA",
"hgvs_p": "p.Glu70_Glu71dup",
"transcript": "XM_011538126.3",
"protein_id": "XP_011536428.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 364,
"cds_start": 212,
"cds_end": null,
"cds_length": 1095,
"cdna_start": 501,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "EEE",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.207_212dupGGAAGA",
"hgvs_p": "p.Glu70_Glu71dup",
"transcript": "XM_047428657.1",
"protein_id": "XP_047284613.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 290,
"cds_start": 212,
"cds_end": null,
"cds_length": 873,
"cdna_start": 408,
"cdna_end": null,
"cdna_length": 1125,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "n.402_407dupGGAAGA",
"hgvs_p": null,
"transcript": "ENST00000553294.1",
"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": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.-126-970_-126-965dupGGAAGA",
"hgvs_p": null,
"transcript": "NM_001286257.2",
"protein_id": "NP_001273186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "c.-126-970_-126-965dupGGAAGA",
"hgvs_p": null,
"transcript": "ENST00000546246.2",
"protein_id": "ENSP00000441515.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1014,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295078",
"gene_hgnc_id": null,
"hgvs_c": "n.808+8962_808+8967dupTTCCTC",
"hgvs_p": null,
"transcript": "ENST00000727836.1",
"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": 1269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000295078",
"gene_hgnc_id": null,
"hgvs_c": "n.265-3530_265-3525dupTTCCTC",
"hgvs_p": null,
"transcript": "ENST00000727846.1",
"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": 588,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"hgvs_c": "n.196-970_196-965dupGGAAGA",
"hgvs_p": null,
"transcript": "NR_104422.2",
"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": 1145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "STAC3",
"gene_hgnc_id": 28423,
"dbsnp": "rs747619441",
"frequency_reference_population": 0.000026023434,
"hom_count_reference_population": 0,
"allele_count_reference_population": 42,
"gnomad_exomes_af": 0.0000239437,
"gnomad_genomes_af": 0.0000460012,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"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": 5.504,
"phylop100way_prediction": "Uncertain_significance",
"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,BP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000332782.7",
"gene_symbol": "STAC3",
"hgnc_id": 28423,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.207_212dupGGAAGA",
"hgvs_p": "p.Glu70_Glu71dup"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000727836.1",
"gene_symbol": "ENSG00000295078",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.808+8962_808+8967dupTTCCTC",
"hgvs_p": null
}
],
"clinvar_disease": "Bailey-Bloch congenital myopathy",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Bailey-Bloch congenital myopathy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}