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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: 6-108951702-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=108951702&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 108951702,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000392644.9",
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "NM_032131.6",
"protein_id": "NP_115507.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": "ENST00000392644.9",
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "ENST00000392644.9",
"protein_id": "ENSP00000376417.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": "NM_032131.6",
"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": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1102-1331C>T",
"hgvs_p": null,
"transcript": "NM_001286609.2",
"protein_id": "NP_001273538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": -4,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3661,
"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": 17,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1102-1331C>T",
"hgvs_p": null,
"transcript": "ENST00000368972.7",
"protein_id": "ENSP00000357968.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 702,
"cds_start": -4,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3663,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "XM_005267154.5",
"protein_id": "XP_005267211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4009,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "XM_005267155.3",
"protein_id": "XP_005267212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3748,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "XM_006715573.3",
"protein_id": "XP_006715636.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3846,
"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": 19,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "XM_011536166.2",
"protein_id": "XP_011534468.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 867,
"cds_start": -4,
"cds_end": null,
"cds_length": 2604,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3832,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "XM_047419396.1",
"protein_id": "XP_047275352.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 850,
"cds_start": -4,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3897,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1448C>T",
"hgvs_p": null,
"transcript": "XM_011536167.2",
"protein_id": "XP_011534469.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 828,
"cds_start": -4,
"cds_end": null,
"cds_length": 2487,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3617,
"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": 18,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "XM_011536168.4",
"protein_id": "XP_011534470.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 821,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1597-1331C>T",
"hgvs_p": null,
"transcript": "XM_011536170.3",
"protein_id": "XP_011534472.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1102-1331C>T",
"hgvs_p": null,
"transcript": "XM_006715574.3",
"protein_id": "XP_006715637.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 702,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"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": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1102-1331C>T",
"hgvs_p": null,
"transcript": "XM_011536172.3",
"protein_id": "XP_011534474.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.856-1331C>T",
"hgvs_p": null,
"transcript": "XM_047419397.1",
"protein_id": "XP_047275353.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 620,
"cds_start": -4,
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"mane_select": null,
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"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "c.1497-1331C>T",
"hgvs_p": null,
"transcript": "XM_011536176.3",
"protein_id": "XP_011534478.1",
"transcript_support_level": null,
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "n.1765-1331C>T",
"hgvs_p": null,
"transcript": "XR_007059340.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3198,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"hgvs_c": "n.5316-1331C>T",
"hgvs_p": null,
"transcript": "XR_007059341.1",
"protein_id": null,
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"aa_start": null,
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"cdna_start": null,
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"cdna_length": 5398,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ARMC2",
"gene_hgnc_id": 23045,
"dbsnp": "rs11153138",
"frequency_reference_population": 0.2975136,
"hom_count_reference_population": 8344,
"allele_count_reference_population": 45278,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.297514,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 45278,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 8344,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8799999952316284,
"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": -0.88,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.077,
"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": "ENST00000392644.9",
"gene_symbol": "ARMC2",
"hgnc_id": 23045,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1597-1331C>T",
"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
}