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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: 14-100115299-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=100115299&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 100115299,
"ref": "T",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000392920.8",
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.359-8240T>A",
"hgvs_p": null,
"transcript": "NM_016337.3",
"protein_id": "NP_057421.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": "ENST00000392920.8",
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.359-8240T>A",
"hgvs_p": null,
"transcript": "ENST00000392920.8",
"protein_id": "ENSP00000376652.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 418,
"cds_start": -4,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": "NM_016337.3",
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.353-8240T>A",
"hgvs_p": null,
"transcript": "ENST00000402714.6",
"protein_id": "ENSP00000384720.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2353,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.353-8240T>A",
"hgvs_p": null,
"transcript": "NM_001330221.2",
"protein_id": "NP_001317150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 416,
"cds_start": -4,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2380,
"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": 11,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.371-8240T>A",
"hgvs_p": null,
"transcript": "ENST00000544450.6",
"protein_id": "ENSP00000437904.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 390,
"cds_start": -4,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3704,
"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": 8,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.41-8240T>A",
"hgvs_p": null,
"transcript": "ENST00000557384.5",
"protein_id": "ENSP00000450979.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 214,
"cds_start": -4,
"cds_end": null,
"cds_length": 646,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 883,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.314-8240T>A",
"hgvs_p": null,
"transcript": "ENST00000557153.5",
"protein_id": "ENSP00000452327.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 167,
"cds_start": -4,
"cds_end": null,
"cds_length": 505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 590,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.314-8240T>A",
"hgvs_p": null,
"transcript": "ENST00000555706.5",
"protein_id": "ENSP00000450723.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": -4,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 583,
"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": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "n.*60-8240T>A",
"hgvs_p": null,
"transcript": "ENST00000553875.5",
"protein_id": "ENSP00000452156.1",
"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": 837,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "n.62+708T>A",
"hgvs_p": null,
"transcript": "ENST00000553910.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 266,
"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "n.359-11408T>A",
"hgvs_p": null,
"transcript": "ENST00000554045.5",
"protein_id": "ENSP00000451226.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1754,
"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": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.371-8240T>A",
"hgvs_p": null,
"transcript": "XM_005267749.4",
"protein_id": "XP_005267806.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 422,
"cds_start": -4,
"cds_end": null,
"cds_length": 1269,
"cdna_start": null,
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"cdna_length": 2050,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.314-8240T>A",
"hgvs_p": null,
"transcript": "XM_047431460.1",
"protein_id": "XP_047287416.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.371-8240T>A",
"hgvs_p": null,
"transcript": "XM_047431462.1",
"protein_id": "XP_047287418.1",
"transcript_support_level": null,
"aa_start": null,
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.359-8240T>A",
"hgvs_p": null,
"transcript": "XM_047431463.1",
"protein_id": "XP_047287419.1",
"transcript_support_level": null,
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"cds_start": -4,
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"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": 13,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.353-8240T>A",
"hgvs_p": null,
"transcript": "XM_047431464.1",
"protein_id": "XP_047287420.1",
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"aa_start": null,
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"aa_length": 395,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.371-8240T>A",
"hgvs_p": null,
"transcript": "XM_011536828.3",
"protein_id": "XP_011535130.1",
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"cds_start": -4,
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"mane_select": null,
"mane_plus": null,
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "c.29-8240T>A",
"hgvs_p": null,
"transcript": "XM_047431465.1",
"protein_id": "XP_047287421.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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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": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "n.654-8240T>A",
"hgvs_p": null,
"transcript": "XR_007064013.1",
"protein_id": null,
"transcript_support_level": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 2507,
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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,
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"exon_count": 12,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"hgvs_c": "n.438-8240T>A",
"hgvs_p": null,
"transcript": "XR_007064014.1",
"protein_id": null,
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"cdna_length": 2299,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "EVL",
"gene_hgnc_id": 20234,
"dbsnp": "rs11160570",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7799999713897705,
"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": -0.78,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.544,
"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": "ENST00000392920.8",
"gene_symbol": "EVL",
"hgnc_id": 20234,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.359-8240T>A",
"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
}