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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: 5-37350288-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37350288&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NUP155",
"hgnc_id": 8063,
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_153485.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 201,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.84,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8399999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1391,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8068,
"cdna_start": null,
"cds_end": null,
"cds_length": 4176,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_153485.3",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000231498.8",
"protein_coding": true,
"protein_id": "NP_705618.1",
"strand": false,
"transcript": "NM_153485.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1391,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8068,
"cdna_start": null,
"cds_end": null,
"cds_length": 4176,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000231498.8",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_153485.3",
"protein_coding": true,
"protein_id": "ENSP00000231498.3",
"strand": false,
"transcript": "ENST00000231498.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1332,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": null,
"cds_end": null,
"cds_length": 3999,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000381843.6",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.547-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371265.2",
"strand": false,
"transcript": "ENST00000381843.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4088,
"cdna_start": null,
"cds_end": null,
"cds_length": 3984,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513532.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000422019.1",
"strand": false,
"transcript": "ENST00000513532.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1426,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4465,
"cdna_start": null,
"cds_end": null,
"cds_length": 4281,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969938.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639997.1",
"strand": false,
"transcript": "ENST00000969938.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1423,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4496,
"cdna_start": null,
"cds_end": null,
"cds_length": 4272,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937460.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607519.1",
"strand": false,
"transcript": "ENST00000937460.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1415,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4412,
"cdna_start": null,
"cds_end": null,
"cds_length": 4248,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937462.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607521.1",
"strand": false,
"transcript": "ENST00000937462.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1391,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8086,
"cdna_start": null,
"cds_end": null,
"cds_length": 4176,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000716591.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520564.1",
"strand": false,
"transcript": "ENST00000716591.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1360,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": null,
"cds_end": null,
"cds_length": 4083,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937459.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.631-23G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607518.1",
"strand": false,
"transcript": "ENST00000937459.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1357,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": null,
"cds_end": null,
"cds_length": 4074,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000969937.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.631-23G>A",
"hgvs_p": null,
"intron_rank": 5,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000639996.1",
"strand": false,
"transcript": "ENST00000969937.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1354,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": null,
"cds_end": null,
"cds_length": 4065,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000937458.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607517.1",
"strand": false,
"transcript": "ENST00000937458.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1340,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": null,
"cds_end": null,
"cds_length": 4023,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000896264.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566323.1",
"strand": false,
"transcript": "ENST00000896264.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1332,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8223,
"cdna_start": null,
"cds_end": null,
"cds_length": 3999,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 35,
"exon_rank": null,
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"feature": "NM_004298.4",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.547-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004289.1",
"strand": false,
"transcript": "NM_004298.4",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1327,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7876,
"cdna_start": null,
"cds_end": null,
"cds_length": 3984,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 34,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001278312.2",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265241.1",
"strand": false,
"transcript": "NM_001278312.2",
"transcript_support_level": null
},
{
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"aa_length": 1268,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3996,
"cdna_start": null,
"cds_end": null,
"cds_length": 3807,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 32,
"exon_rank": null,
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"feature": "ENST00000937461.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607520.1",
"strand": false,
"transcript": "ENST00000937461.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 923,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2983,
"cdna_start": null,
"cds_end": null,
"cds_length": 2772,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417934.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273890.1",
"strand": false,
"transcript": "XM_047417934.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 892,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2907,
"cdna_start": null,
"cds_end": null,
"cds_length": 2679,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011514165.4",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011512467.1",
"strand": false,
"transcript": "XM_011514165.4",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": null,
"cds_end": null,
"cds_length": 2103,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047417935.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.724-23G>A",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047273891.1",
"strand": false,
"transcript": "XM_047417935.1",
"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": 459,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"upstream_gene_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000507233.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "n.-86G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000507233.1",
"transcript_support_level": 4
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs217776",
"effect": "intron_variant",
"frequency_reference_population": 0.00013178618,
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"gnomad_exomes_ac": 190,
"gnomad_exomes_af": 0.000138354,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 11,
"gnomad_genomes_af": 0.0000724122,
"gnomad_genomes_homalt": 0,
"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": 0.315,
"pos": 37350288,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_153485.3"
}
]
}