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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: 11-120377784-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=120377784&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 120377784,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000397843.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "NM_015313.3",
"protein_id": "NP_056128.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10326,
"mane_select": "ENST00000397843.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "ENST00000397843.7",
"protein_id": "ENSP00000380942.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1544,
"cds_start": -4,
"cds_end": null,
"cds_length": 4635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10326,
"mane_select": "NM_015313.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "NM_001198665.2",
"protein_id": "NP_001185594.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10269,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "ENST00000356641.7",
"protein_id": "ENSP00000349056.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1525,
"cds_start": -4,
"cds_end": null,
"cds_length": 4578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "XM_006718805.4",
"protein_id": "XP_006718868.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1519,
"cds_start": -4,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "XM_047426659.1",
"protein_id": "XP_047282615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1504,
"cds_start": -4,
"cds_end": null,
"cds_length": 4515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "XM_047426660.1",
"protein_id": "XP_047282616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1500,
"cds_start": -4,
"cds_end": null,
"cds_length": 4503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "XM_017017420.2",
"protein_id": "XP_016872909.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1485,
"cds_start": -4,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "XM_047426661.1",
"protein_id": "XP_047282617.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1479,
"cds_start": -4,
"cds_end": null,
"cds_length": 4440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10131,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null,
"transcript": "XM_047426662.1",
"protein_id": "XP_047282618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1460,
"cds_start": -4,
"cds_end": null,
"cds_length": 4383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.-277-28334A>G",
"hgvs_p": null,
"transcript": "XM_011542720.3",
"protein_id": "XP_011541022.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1441,
"cds_start": -4,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.-277-28334A>G",
"hgvs_p": null,
"transcript": "XM_017017421.2",
"protein_id": "XP_016872910.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1441,
"cds_start": -4,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.-220-28334A>G",
"hgvs_p": null,
"transcript": "XM_047426663.1",
"protein_id": "XP_047282619.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1441,
"cds_start": -4,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.-111+40509A>G",
"hgvs_p": null,
"transcript": "XM_047426665.1",
"protein_id": "XP_047282621.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1441,
"cds_start": -4,
"cds_end": null,
"cds_length": 4326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.-220-28334A>G",
"hgvs_p": null,
"transcript": "XM_047426667.1",
"protein_id": "XP_047282623.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1416,
"cds_start": -4,
"cds_end": null,
"cds_length": 4251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9595,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.-277-28334A>G",
"hgvs_p": null,
"transcript": "XM_047426666.1",
"protein_id": "XP_047282622.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1401,
"cds_start": -4,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
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"cdna_length": 9607,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"hgvs_c": "c.-220-28334A>G",
"hgvs_p": null,
"transcript": "XM_047426668.1",
"protein_id": "XP_047282624.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1401,
"cds_start": -4,
"cds_end": null,
"cds_length": 4206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGEF12",
"gene_hgnc_id": 14193,
"dbsnp": "rs58073046",
"frequency_reference_population": 0.08982777,
"hom_count_reference_population": 859,
"allele_count_reference_population": 13654,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0898278,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 13654,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 859,
"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,
"splice_prediction_selected": "Benign",
"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": 0.074,
"phylop100way_prediction": "Benign",
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000397843.7",
"gene_symbol": "ARHGEF12",
"hgnc_id": 14193,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.33-28334A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}