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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: 14-21081734-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21081734&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21081734,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000298694.9",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Val956Met",
"transcript": "NM_018071.5",
"protein_id": "NP_060541.3",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1519,
"cds_start": 2866,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": "ENST00000298694.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Val956Met",
"transcript": "ENST00000298694.9",
"protein_id": "ENSP00000298694.4",
"transcript_support_level": 2,
"aa_start": 956,
"aa_end": null,
"aa_length": 1519,
"cds_start": 2866,
"cds_end": null,
"cds_length": 4560,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 5893,
"mane_select": "NM_018071.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "n.*1030G>A",
"hgvs_p": null,
"transcript": "ENST00000553709.5",
"protein_id": "ENSP00000452283.1",
"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": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "n.346G>A",
"hgvs_p": null,
"transcript": "ENST00000554514.1",
"protein_id": null,
"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": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "n.*1190G>A",
"hgvs_p": null,
"transcript": "ENST00000556399.5",
"protein_id": "ENSP00000451655.1",
"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": 4902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "n.*1030G>A",
"hgvs_p": null,
"transcript": "ENST00000553709.5",
"protein_id": "ENSP00000452283.1",
"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": 5204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "n.*1190G>A",
"hgvs_p": null,
"transcript": "ENST00000556399.5",
"protein_id": "ENSP00000451655.1",
"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": 4902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Val242Met",
"transcript": "NM_001278529.2",
"protein_id": "NP_001265458.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 805,
"cds_start": 724,
"cds_end": null,
"cds_length": 2418,
"cdna_start": 2986,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.724G>A",
"hgvs_p": "p.Val242Met",
"transcript": "NM_001278530.2",
"protein_id": "NP_001265459.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 757,
"cds_start": 724,
"cds_end": null,
"cds_length": 2274,
"cdna_start": 2792,
"cdna_end": null,
"cdna_length": 5582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Val956Met",
"transcript": "XM_011536937.4",
"protein_id": "XP_011535239.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1523,
"cds_start": 2866,
"cds_end": null,
"cds_length": 4572,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 5905,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Val956Met",
"transcript": "XM_047431564.1",
"protein_id": "XP_047287520.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1475,
"cds_start": 2866,
"cds_end": null,
"cds_length": 4428,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 5761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Val956Met",
"transcript": "XM_005267844.4",
"protein_id": "XP_005267901.1",
"transcript_support_level": null,
"aa_start": 956,
"aa_end": null,
"aa_length": 1471,
"cds_start": 2866,
"cds_end": null,
"cds_length": 4416,
"cdna_start": 2959,
"cdna_end": null,
"cdna_length": 5749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.2290G>A",
"hgvs_p": "p.Val764Met",
"transcript": "XM_017021434.3",
"protein_id": "XP_016876923.1",
"transcript_support_level": null,
"aa_start": 764,
"aa_end": null,
"aa_length": 1331,
"cds_start": 2290,
"cds_end": null,
"cds_length": 3996,
"cdna_start": 3308,
"cdna_end": null,
"cdna_length": 6254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "n.1590G>A",
"hgvs_p": null,
"transcript": "ENST00000555232.5",
"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": 3902,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"hgvs_c": "c.*280G>A",
"hgvs_p": null,
"transcript": "XM_011536938.4",
"protein_id": "XP_011535240.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": -4,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ARHGEF40",
"gene_hgnc_id": 25516,
"dbsnp": "rs7143633",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.050363749265670776,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.1442,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.069,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000298694.9",
"gene_symbol": "ARHGEF40",
"hgnc_id": 25516,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2866G>A",
"hgvs_p": "p.Val956Met"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}