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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: 15-39934335-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=39934335&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EIF2AK4",
"hgnc_id": 19687,
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001013703.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0892,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "15",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.1110314130783081,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 221,
"cds_end": null,
"cds_length": 4950,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001013703.4",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263791.10",
"protein_coding": true,
"protein_id": "NP_001013725.2",
"strand": true,
"transcript": "NM_001013703.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1649,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 221,
"cds_end": null,
"cds_length": 4950,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000263791.10",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001013703.4",
"protein_coding": true,
"protein_id": "ENSP00000263791.5",
"strand": true,
"transcript": "ENST00000263791.10",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 616,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3548,
"cdna_start": 190,
"cds_end": null,
"cds_length": 1851,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000559624.5",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453148.1",
"strand": true,
"transcript": "ENST00000559624.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1663,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5558,
"cdna_start": 195,
"cds_end": null,
"cds_length": 4992,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917949.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588008.1",
"strand": true,
"transcript": "ENST00000917949.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1626,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5470,
"cdna_start": 219,
"cds_end": null,
"cds_length": 4881,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917947.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588006.1",
"strand": true,
"transcript": "ENST00000917947.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1622,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": 154,
"cds_end": null,
"cds_length": 4869,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917953.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588012.1",
"strand": true,
"transcript": "ENST00000917953.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1613,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5419,
"cdna_start": 208,
"cds_end": null,
"cds_length": 4842,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917948.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588007.1",
"strand": true,
"transcript": "ENST00000917948.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1598,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": 193,
"cds_end": null,
"cds_length": 4797,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917950.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588009.1",
"strand": true,
"transcript": "ENST00000917950.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1592,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": 219,
"cds_end": null,
"cds_length": 4779,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917946.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588005.1",
"strand": true,
"transcript": "ENST00000917946.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1577,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": 191,
"cds_end": null,
"cds_length": 4734,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917945.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588004.1",
"strand": true,
"transcript": "ENST00000917945.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1569,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5282,
"cdna_start": 206,
"cds_end": null,
"cds_length": 4710,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000958415.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628474.1",
"strand": true,
"transcript": "ENST00000958415.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1564,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5220,
"cdna_start": 153,
"cds_end": null,
"cds_length": 4695,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917952.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588011.1",
"strand": true,
"transcript": "ENST00000917952.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1556,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5196,
"cdna_start": 155,
"cds_end": null,
"cds_length": 4671,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000958416.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628475.1",
"strand": true,
"transcript": "ENST00000958416.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1417,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": 190,
"cds_end": null,
"cds_length": 4254,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917951.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588010.1",
"strand": true,
"transcript": "ENST00000917951.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 136,
"aa_ref": "G",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 687,
"cdna_start": 160,
"cds_end": null,
"cds_length": 411,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000560648.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.140G>T",
"hgvs_p": "p.Gly47Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453968.1",
"strand": true,
"transcript": "ENST00000560648.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"gnomad_exomes_ac": 0,
"gnomad_exomes_af": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "Inborn genetic diseases",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.719,
"pos": 39934335,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.04,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.019999999552965164,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.02,
"transcript": "NM_001013703.4"
}
]
}