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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: 15-40008013-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40008013&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "EIF2AK4",
"hgnc_id": 19687,
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001013703.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000306490",
"hgnc_id": null,
"hgvs_c": "n.196-9125C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000819059.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": null,
"cds_end": null,
"cds_length": 4950,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001013703.4",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": null,
"aa_end": null,
"aa_length": 1649,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": null,
"cds_end": null,
"cds_length": 4950,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263791.10",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558629.5",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "n.2325-14G>A",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000558629.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1663,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5558,
"cdna_start": null,
"cds_end": null,
"cds_length": 4992,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917949.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3450-14G>A",
"hgvs_p": null,
"intron_rank": 25,
"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": null,
"aa_end": null,
"aa_length": 1626,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5470,
"cdna_start": null,
"cds_end": null,
"cds_length": 4881,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917947.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": null,
"aa_end": null,
"aa_length": 1622,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5390,
"cdna_start": null,
"cds_end": null,
"cds_length": 4869,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917953.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3327-14G>A",
"hgvs_p": null,
"intron_rank": 23,
"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": null,
"aa_end": null,
"aa_length": 1613,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5419,
"cdna_start": null,
"cds_end": null,
"cds_length": 4842,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917948.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": null,
"aa_end": null,
"aa_length": 1598,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5357,
"cdna_start": null,
"cds_end": null,
"cds_length": 4797,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917950.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3324-14G>A",
"hgvs_p": null,
"intron_rank": 23,
"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": null,
"aa_end": null,
"aa_length": 1592,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5370,
"cdna_start": null,
"cds_end": null,
"cds_length": 4779,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917946.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": null,
"aa_end": null,
"aa_length": 1577,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5437,
"cdna_start": null,
"cds_end": null,
"cds_length": 4734,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917945.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": null,
"aa_end": null,
"aa_length": 1569,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5282,
"cdna_start": null,
"cds_end": null,
"cds_length": 4710,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958415.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"intron_rank": 24,
"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
},
{
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"aa_length": 1564,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5220,
"cdna_start": null,
"cds_end": null,
"cds_length": 4695,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
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"feature": "ENST00000917952.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3324-14G>A",
"hgvs_p": null,
"intron_rank": 23,
"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
},
{
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"aa_length": 1556,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5196,
"cdna_start": null,
"cds_end": null,
"cds_length": 4671,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000958416.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.3408-14G>A",
"hgvs_p": null,
"intron_rank": 24,
"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": null,
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"aa_length": 1426,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4789,
"cdna_start": null,
"cds_end": null,
"cds_length": 4281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000560855.5",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.2739-14G>A",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453575.1",
"strand": true,
"transcript": "ENST00000560855.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4810,
"cdna_start": null,
"cds_end": null,
"cds_length": 4254,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000917951.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "c.2712-14G>A",
"hgvs_p": null,
"intron_rank": 21,
"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": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000558557.1",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "n.571-14G>A",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000558557.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 535,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000559311.5",
"gene_hgnc_id": 19687,
"gene_symbol": "EIF2AK4",
"hgvs_c": "n.369-14G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000559311.5",
"transcript_support_level": 4
},
{
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"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000819059.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000306490",
"hgvs_c": "n.196-9125C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000819059.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs2279580",
"effect": "intron_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": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.409,
"pos": 40008013,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_001013703.4"
}
]
}