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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: 5-37294341-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37294341&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NUP155",
"hgnc_id": 8063,
"hgvs_c": "c.3918G>T",
"hgvs_p": "p.Leu1306Phe",
"inheritance_mode": "AR,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_153485.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.4145,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8711257576942444,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1391,
"aa_ref": "L",
"aa_start": 1306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8068,
"cdna_start": 4047,
"cds_end": null,
"cds_length": 4176,
"cds_start": 3918,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_153485.3",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3918G>T",
"hgvs_p": "p.Leu1306Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1391,
"aa_ref": "L",
"aa_start": 1306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8068,
"cdna_start": 4047,
"cds_end": null,
"cds_length": 4176,
"cds_start": 3918,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000231498.8",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3918G>T",
"hgvs_p": "p.Leu1306Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "L",
"aa_start": 1247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": 3881,
"cds_end": null,
"cds_length": 3999,
"cds_start": 3741,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000381843.6",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3741G>T",
"hgvs_p": "p.Leu1247Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1327,
"aa_ref": "L",
"aa_start": 1242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4088,
"cdna_start": 3830,
"cds_end": null,
"cds_length": 3984,
"cds_start": 3726,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000513532.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3726G>T",
"hgvs_p": "p.Leu1242Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1426,
"aa_ref": "L",
"aa_start": 1341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4465,
"cdna_start": 4148,
"cds_end": null,
"cds_length": 4281,
"cds_start": 4023,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000969938.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.4023G>T",
"hgvs_p": "p.Leu1341Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "L",
"aa_start": 1338,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4496,
"cdna_start": 4118,
"cds_end": null,
"cds_length": 4272,
"cds_start": 4014,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000937460.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.4014G>T",
"hgvs_p": "p.Leu1338Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1415,
"aa_ref": "L",
"aa_start": 1330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4412,
"cdna_start": 4092,
"cds_end": null,
"cds_length": 4248,
"cds_start": 3990,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "ENST00000937462.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3990G>T",
"hgvs_p": "p.Leu1330Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1391,
"aa_ref": "L",
"aa_start": 1306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8086,
"cdna_start": 4065,
"cds_end": null,
"cds_length": 4176,
"cds_start": 3918,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000716591.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3918G>T",
"hgvs_p": "p.Leu1306Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "L",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4307,
"cdna_start": 3988,
"cds_end": null,
"cds_length": 4083,
"cds_start": 3825,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000937459.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3825G>T",
"hgvs_p": "p.Leu1275Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "L",
"aa_start": 1272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 3954,
"cds_end": null,
"cds_length": 4074,
"cds_start": 3816,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000969937.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3816G>T",
"hgvs_p": "p.Leu1272Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1354,
"aa_ref": "L",
"aa_start": 1269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4339,
"cdna_start": 3938,
"cds_end": null,
"cds_length": 4065,
"cds_start": 3807,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000937458.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3807G>T",
"hgvs_p": "p.Leu1269Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1340,
"aa_ref": "L",
"aa_start": 1255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4428,
"cdna_start": 3896,
"cds_end": null,
"cds_length": 4023,
"cds_start": 3765,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000896264.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3765G>T",
"hgvs_p": "p.Leu1255Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1332,
"aa_ref": "L",
"aa_start": 1247,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8223,
"cdna_start": 4202,
"cds_end": null,
"cds_length": 3999,
"cds_start": 3741,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_004298.4",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3741G>T",
"hgvs_p": "p.Leu1247Phe",
"intron_rank": null,
"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": "F",
"aa_end": null,
"aa_length": 1327,
"aa_ref": "L",
"aa_start": 1242,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7876,
"cdna_start": 3855,
"cds_end": null,
"cds_length": 3984,
"cds_start": 3726,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_001278312.2",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3726G>T",
"hgvs_p": "p.Leu1242Phe",
"intron_rank": null,
"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
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1268,
"aa_ref": null,
"aa_start": null,
"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,
"exon_rank_end": null,
"feature": "ENST00000937461.1",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "c.3562-1356G>T",
"hgvs_p": null,
"intron_rank": 30,
"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,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000502533.5",
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"hgvs_c": "n.1576G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000502533.5",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs774178827",
"effect": "missense_variant",
"frequency_reference_population": 0.0000012606096,
"gene_hgnc_id": 8063,
"gene_symbol": "NUP155",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.97125e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 1,
"gnomad_genomes_af": 0.00000657583,
"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": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.534,
"pos": 37294341,
"ref": "C",
"revel_prediction": "Pathogenic",
"revel_score": 0.736,
"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"
}
]
}