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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: 16-27362659-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=27362659&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "IL4R",
"hgnc_id": 6015,
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"inheritance_mode": "Unknown",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_000418.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.1225,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.13286936283111572,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_000418.4",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395762.7",
"protein_coding": true,
"protein_id": "NP_000409.1",
"strand": true,
"transcript": "NM_000418.4",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3624,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000395762.7",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000418.4",
"protein_coding": true,
"protein_id": "ENSP00000379111.2",
"strand": true,
"transcript": "ENST00000395762.7",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000543915.6",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441667.2",
"strand": true,
"transcript": "ENST00000543915.6",
"transcript_support_level": 1
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 832,
"aa_ref": "S",
"aa_start": 443,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3577,
"cdna_start": 1458,
"cds_end": null,
"cds_length": 2499,
"cds_start": 1328,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000912076.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1328C>G",
"hgvs_p": "p.Ser443Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000582135.1",
"strand": true,
"transcript": "ENST00000912076.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3491,
"cdna_start": 1372,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001257406.2",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244335.1",
"strand": true,
"transcript": "NM_001257406.2",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3933,
"cdna_start": 1814,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856359.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526418.1",
"strand": true,
"transcript": "ENST00000856359.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3566,
"cdna_start": 1447,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000856360.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526419.1",
"strand": true,
"transcript": "ENST00000856360.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3862,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856361.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526420.1",
"strand": true,
"transcript": "ENST00000856361.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3994,
"cdna_start": 1877,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856362.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526421.1",
"strand": true,
"transcript": "ENST00000856362.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3864,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856363.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526422.1",
"strand": true,
"transcript": "ENST00000856363.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3972,
"cdna_start": 1853,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856364.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526423.1",
"strand": true,
"transcript": "ENST00000856364.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3936,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856365.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526424.1",
"strand": true,
"transcript": "ENST00000856365.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3749,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856366.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526425.1",
"strand": true,
"transcript": "ENST00000856366.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3926,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000856367.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526426.1",
"strand": true,
"transcript": "ENST00000856367.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856368.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526427.1",
"strand": true,
"transcript": "ENST00000856368.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3857,
"cdna_start": 1738,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000856369.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526428.1",
"strand": true,
"transcript": "ENST00000856369.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3567,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000856370.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526429.1",
"strand": true,
"transcript": "ENST00000856370.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3574,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856372.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526431.1",
"strand": true,
"transcript": "ENST00000856372.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3668,
"cdna_start": 1549,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856373.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526432.1",
"strand": true,
"transcript": "ENST00000856373.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4760,
"cdna_start": 2641,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000856374.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
"hgvs_p": "p.Ser436Trp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000526433.1",
"strand": true,
"transcript": "ENST00000856374.1",
"transcript_support_level": null
},
{
"aa_alt": "W",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3550,
"cdna_start": 1433,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000856375.1",
"gene_hgnc_id": 6015,
"gene_symbol": "IL4R",
"hgvs_c": "c.1307C>G",
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