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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: 9-128958019-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128958019&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 128958019,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_015354.3",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "NM_015354.3",
"protein_id": "NP_056169.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1749,
"cds_start": 337,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372577.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015354.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000372577.2",
"protein_id": "ENSP00000361658.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 1749,
"cds_start": 337,
"cds_end": null,
"cds_length": 5250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015354.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372577.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.544C>T",
"hgvs_p": "p.Gln182*",
"transcript": "ENST00000935260.1",
"protein_id": "ENSP00000605319.1",
"transcript_support_level": null,
"aa_start": 182,
"aa_end": null,
"aa_length": 1818,
"cds_start": 544,
"cds_end": null,
"cds_length": 5457,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935260.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935265.1",
"protein_id": "ENSP00000605324.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1766,
"cds_start": 337,
"cds_end": null,
"cds_length": 5301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935265.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000870699.1",
"protein_id": "ENSP00000540758.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1753,
"cds_start": 337,
"cds_end": null,
"cds_length": 5262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870699.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Gln112*",
"transcript": "ENST00000935257.1",
"protein_id": "ENSP00000605316.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 1748,
"cds_start": 334,
"cds_end": null,
"cds_length": 5247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935257.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935259.1",
"protein_id": "ENSP00000605318.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1748,
"cds_start": 337,
"cds_end": null,
"cds_length": 5247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935259.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Gln111*",
"transcript": "ENST00000935263.1",
"protein_id": "ENSP00000605322.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 1747,
"cds_start": 331,
"cds_end": null,
"cds_length": 5244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935263.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935261.1",
"protein_id": "ENSP00000605320.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1746,
"cds_start": 337,
"cds_end": null,
"cds_length": 5241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935261.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935258.1",
"protein_id": "ENSP00000605317.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1723,
"cds_start": 337,
"cds_end": null,
"cds_length": 5172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935258.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000870698.1",
"protein_id": "ENSP00000540757.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1719,
"cds_start": 337,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870698.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935256.1",
"protein_id": "ENSP00000605315.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1719,
"cds_start": 337,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935256.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935267.1",
"protein_id": "ENSP00000605326.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1719,
"cds_start": 337,
"cds_end": null,
"cds_length": 5160,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935267.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000870700.1",
"protein_id": "ENSP00000540759.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1706,
"cds_start": 337,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870700.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935262.1",
"protein_id": "ENSP00000605321.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1706,
"cds_start": 337,
"cds_end": null,
"cds_length": 5121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935262.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935264.1",
"protein_id": "ENSP00000605323.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1695,
"cds_start": 337,
"cds_end": null,
"cds_length": 5088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935264.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*",
"transcript": "ENST00000935266.1",
"protein_id": "ENSP00000605325.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 1640,
"cds_start": 337,
"cds_end": null,
"cds_length": 4923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935266.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"hgvs_c": "n.346C>T",
"hgvs_p": null,
"transcript": "ENST00000491990.5",
"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": "ENST00000491990.5"
}
],
"gene_symbol": "NUP188",
"gene_hgnc_id": 17859,
"dbsnp": "rs1588270041",
"frequency_reference_population": 6.8461173e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84612e-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": 0.6299999952316284,
"computational_prediction_selected": "Pathogenic",
"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": 0.63,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.189,
"phylop100way_prediction": "Uncertain_significance",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_015354.3",
"gene_symbol": "NUP188",
"hgnc_id": 17859,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.337C>T",
"hgvs_p": "p.Gln113*"
}
],
"clinvar_disease": "Sandestig-stefanova syndrome,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided|Sandestig-stefanova syndrome",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}