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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: 5-37298905-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=37298905&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 37298905,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_153485.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3756C>G",
"hgvs_p": "p.Gly1252Gly",
"transcript": "NM_153485.3",
"protein_id": "NP_705618.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3756,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000231498.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153485.3"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3756C>G",
"hgvs_p": "p.Gly1252Gly",
"transcript": "ENST00000231498.8",
"protein_id": "ENSP00000231498.3",
"transcript_support_level": 1,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3756,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153485.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000231498.8"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3579C>G",
"hgvs_p": "p.Gly1193Gly",
"transcript": "ENST00000381843.6",
"protein_id": "ENSP00000371265.2",
"transcript_support_level": 1,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3579,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381843.6"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3564C>G",
"hgvs_p": "p.Gly1188Gly",
"transcript": "ENST00000513532.1",
"protein_id": "ENSP00000422019.1",
"transcript_support_level": 1,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3564,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513532.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3756C>G",
"hgvs_p": "p.Gly1252Gly",
"transcript": "ENST00000969938.1",
"protein_id": "ENSP00000639997.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1426,
"cds_start": 3756,
"cds_end": null,
"cds_length": 4281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969938.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3852C>G",
"hgvs_p": "p.Gly1284Gly",
"transcript": "ENST00000937460.1",
"protein_id": "ENSP00000607519.1",
"transcript_support_level": null,
"aa_start": 1284,
"aa_end": null,
"aa_length": 1423,
"cds_start": 3852,
"cds_end": null,
"cds_length": 4272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937460.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3828C>G",
"hgvs_p": "p.Gly1276Gly",
"transcript": "ENST00000937462.1",
"protein_id": "ENSP00000607521.1",
"transcript_support_level": null,
"aa_start": 1276,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3828,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937462.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3756C>G",
"hgvs_p": "p.Gly1252Gly",
"transcript": "ENST00000716591.1",
"protein_id": "ENSP00000520564.1",
"transcript_support_level": null,
"aa_start": 1252,
"aa_end": null,
"aa_length": 1391,
"cds_start": 3756,
"cds_end": null,
"cds_length": 4176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000716591.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3663C>G",
"hgvs_p": "p.Gly1221Gly",
"transcript": "ENST00000937459.1",
"protein_id": "ENSP00000607518.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1360,
"cds_start": 3663,
"cds_end": null,
"cds_length": 4083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937459.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3654C>G",
"hgvs_p": "p.Gly1218Gly",
"transcript": "ENST00000969937.1",
"protein_id": "ENSP00000639996.1",
"transcript_support_level": null,
"aa_start": 1218,
"aa_end": null,
"aa_length": 1357,
"cds_start": 3654,
"cds_end": null,
"cds_length": 4074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969937.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3645C>G",
"hgvs_p": "p.Gly1215Gly",
"transcript": "ENST00000937458.1",
"protein_id": "ENSP00000607517.1",
"transcript_support_level": null,
"aa_start": 1215,
"aa_end": null,
"aa_length": 1354,
"cds_start": 3645,
"cds_end": null,
"cds_length": 4065,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937458.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3603C>G",
"hgvs_p": "p.Gly1201Gly",
"transcript": "ENST00000896264.1",
"protein_id": "ENSP00000566323.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1340,
"cds_start": 3603,
"cds_end": null,
"cds_length": 4023,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896264.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3579C>G",
"hgvs_p": "p.Gly1193Gly",
"transcript": "NM_004298.4",
"protein_id": "NP_004289.1",
"transcript_support_level": null,
"aa_start": 1193,
"aa_end": null,
"aa_length": 1332,
"cds_start": 3579,
"cds_end": null,
"cds_length": 3999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004298.4"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3564C>G",
"hgvs_p": "p.Gly1188Gly",
"transcript": "NM_001278312.2",
"protein_id": "NP_001265241.1",
"transcript_support_level": null,
"aa_start": 1188,
"aa_end": null,
"aa_length": 1327,
"cds_start": 3564,
"cds_end": null,
"cds_length": 3984,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278312.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "c.3561+2532C>G",
"hgvs_p": null,
"transcript": "ENST00000937461.1",
"protein_id": "ENSP00000607520.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1268,
"cds_start": null,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937461.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"hgvs_c": "n.1414C>G",
"hgvs_p": null,
"transcript": "ENST00000502533.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000502533.5"
}
],
"gene_symbol": "NUP155",
"gene_hgnc_id": 8063,
"dbsnp": "rs216400",
"frequency_reference_population": 6.849672e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84967e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"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": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.773,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_153485.3",
"gene_symbol": "NUP155",
"hgnc_id": 8063,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3756C>G",
"hgvs_p": "p.Gly1252Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}