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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: 17-75235641-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75235641&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NUP85",
"hgnc_id": 8734,
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Arg645Gly",
"inheritance_mode": "AR,Unknown,AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_024844.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM5",
"acmg_score": 4,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.255,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6125975847244263,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_024844.5",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Arg645Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000245544.9",
"protein_coding": true,
"protein_id": "NP_079120.1",
"strand": true,
"transcript": "NM_024844.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 656,
"aa_ref": "R",
"aa_start": 645,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2133,
"cdna_start": 2016,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1933,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000245544.9",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1933C>G",
"hgvs_p": "p.Arg645Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024844.5",
"protein_coding": true,
"protein_id": "ENSP00000245544.4",
"strand": true,
"transcript": "ENST00000245544.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 674,
"aa_ref": "R",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 2064,
"cds_end": null,
"cds_length": 2025,
"cds_start": 1987,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000968072.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1987C>G",
"hgvs_p": "p.Arg663Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000638131.1",
"strand": true,
"transcript": "ENST00000968072.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 649,
"aa_ref": "R",
"aa_start": 638,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2105,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1912,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000898366.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1912C>G",
"hgvs_p": "p.Arg638Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568425.1",
"strand": true,
"transcript": "ENST00000898366.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 622,
"aa_ref": "R",
"aa_start": 611,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2019,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1831,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000898367.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1831C>G",
"hgvs_p": "p.Arg611Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568426.1",
"strand": true,
"transcript": "ENST00000898367.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1998,
"cdna_start": 1881,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1798,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001330472.2",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1798C>G",
"hgvs_p": "p.Arg600Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317401.1",
"strand": true,
"transcript": "NM_001330472.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 611,
"aa_ref": "R",
"aa_start": 600,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1890,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 1836,
"cds_start": 1798,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000579298.5",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1798C>G",
"hgvs_p": "p.Arg600Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462749.1",
"strand": true,
"transcript": "ENST00000579298.5",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 610,
"aa_ref": "R",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2039,
"cdna_start": 1922,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1795,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001303276.2",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1795C>G",
"hgvs_p": "p.Arg599Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290205.1",
"strand": true,
"transcript": "NM_001303276.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 605,
"aa_ref": "R",
"aa_start": 594,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1965,
"cdna_start": 1850,
"cds_end": null,
"cds_length": 1818,
"cds_start": 1780,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000916514.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1780C>G",
"hgvs_p": "p.Arg594Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586573.1",
"strand": true,
"transcript": "ENST00000916514.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 544,
"aa_ref": "R",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2010,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1597,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000579324.5",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1597C>G",
"hgvs_p": "p.Arg533Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463382.1",
"strand": true,
"transcript": "ENST00000579324.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 259,
"aa_ref": "R",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1926,
"cdna_start": 1810,
"cds_end": null,
"cds_length": 780,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000540768.5",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.742C>G",
"hgvs_p": "p.Arg248Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445855.1",
"strand": true,
"transcript": "ENST00000540768.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 97,
"aa_ref": "R",
"aa_start": 86,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 373,
"cdna_start": 257,
"cds_end": null,
"cds_length": 294,
"cds_start": 256,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000579838.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.256C>G",
"hgvs_p": "p.Arg86Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462364.1",
"strand": true,
"transcript": "ENST00000579838.1",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 488,
"aa_ref": "R",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1638,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 1467,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047436777.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.1429C>G",
"hgvs_p": "p.Arg477Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292733.1",
"strand": true,
"transcript": "XM_047436777.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 339,
"aa_ref": "R",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1215,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1020,
"cds_start": 982,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047436779.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.982C>G",
"hgvs_p": "p.Arg328Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292735.1",
"strand": true,
"transcript": "XM_047436779.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 259,
"aa_ref": "R",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1090,
"cdna_start": 973,
"cds_end": null,
"cds_length": 780,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047436780.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.742C>G",
"hgvs_p": "p.Arg248Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292736.1",
"strand": true,
"transcript": "XM_047436780.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 114,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 528,
"cdna_start": null,
"cds_end": null,
"cds_length": 345,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000579900.5",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "c.*66C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463437.1",
"strand": true,
"transcript": "ENST00000579900.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000578987.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "n.*132C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464544.1",
"strand": true,
"transcript": "ENST00000578987.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000581104.5",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "n.*1612C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461919.1",
"strand": true,
"transcript": "ENST00000581104.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 300,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000584155.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "n.*132C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464433.1",
"strand": true,
"transcript": "ENST00000584155.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 388,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000578987.1",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "n.*132C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000464544.1",
"strand": true,
"transcript": "ENST00000578987.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000581104.5",
"gene_hgnc_id": 8734,
"gene_symbol": "NUP85",
"hgvs_c": "n.*1612C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461919.1",
"strand": true,
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