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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: 11-65654390-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=65654390&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 65654390,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000406246.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1644G>T",
"hgvs_p": "p.Gln548His",
"transcript": "NM_021975.4",
"protein_id": "NP_068810.3",
"transcript_support_level": null,
"aa_start": 548,
"aa_end": null,
"aa_length": 551,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": "ENST00000406246.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1644G>T",
"hgvs_p": "p.Gln548His",
"transcript": "ENST00000406246.8",
"protein_id": "ENSP00000384273.3",
"transcript_support_level": 1,
"aa_start": 548,
"aa_end": null,
"aa_length": 551,
"cds_start": 1644,
"cds_end": null,
"cds_length": 1656,
"cdna_start": 1728,
"cdna_end": null,
"cdna_length": 2517,
"mane_select": "NM_021975.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"transcript": "ENST00000308639.13",
"protein_id": "ENSP00000311508.9",
"transcript_support_level": 1,
"aa_start": 545,
"aa_end": null,
"aa_length": 548,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1893,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1335G>T",
"hgvs_p": "p.Gln445His",
"transcript": "ENST00000612991.4",
"protein_id": "ENSP00000483705.1",
"transcript_support_level": 1,
"aa_start": 445,
"aa_end": null,
"aa_length": 448,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 2266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.*1197G>T",
"hgvs_p": null,
"transcript": "ENST00000525693.5",
"protein_id": "ENSP00000432537.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 377,
"cds_start": -4,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1677G>T",
"hgvs_p": "p.Gln559His",
"transcript": "NM_001404657.1",
"protein_id": "NP_001391586.1",
"transcript_support_level": null,
"aa_start": 559,
"aa_end": null,
"aa_length": 562,
"cds_start": 1677,
"cds_end": null,
"cds_length": 1689,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1635G>T",
"hgvs_p": "p.Gln545His",
"transcript": "NM_001145138.2",
"protein_id": "NP_001138610.1",
"transcript_support_level": null,
"aa_start": 545,
"aa_end": null,
"aa_length": 548,
"cds_start": 1635,
"cds_end": null,
"cds_length": 1647,
"cdna_start": 1719,
"cdna_end": null,
"cdna_length": 2508,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1617G>T",
"hgvs_p": "p.Gln539His",
"transcript": "NM_001404658.1",
"protein_id": "NP_001391587.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 542,
"cds_start": 1617,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1551G>T",
"hgvs_p": "p.Gln517His",
"transcript": "NM_001404662.1",
"protein_id": "NP_001391591.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 520,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 2325,
"cdna_end": null,
"cdna_length": 3114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1551G>T",
"hgvs_p": "p.Gln517His",
"transcript": "NM_001404663.1",
"protein_id": "NP_001391592.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 520,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1870,
"cdna_end": null,
"cdna_length": 2659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1437G>T",
"hgvs_p": "p.Gln479His",
"transcript": "NM_001243984.2",
"protein_id": "NP_001230913.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 482,
"cds_start": 1437,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 1521,
"cdna_end": null,
"cdna_length": 2310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1431G>T",
"hgvs_p": "p.Gln477His",
"transcript": "NM_001404659.1",
"protein_id": "NP_001391588.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 480,
"cds_start": 1431,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 1515,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1335G>T",
"hgvs_p": "p.Gln445His",
"transcript": "NM_001243985.2",
"protein_id": "NP_001230914.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 448,
"cds_start": 1335,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1326G>T",
"hgvs_p": "p.Gln442His",
"transcript": "NM_001404660.1",
"protein_id": "NP_001391589.1",
"transcript_support_level": null,
"aa_start": 442,
"aa_end": null,
"aa_length": 445,
"cds_start": 1326,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 2199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1263G>T",
"hgvs_p": "p.Gln421His",
"transcript": "NM_001404661.1",
"protein_id": "NP_001391590.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 424,
"cds_start": 1263,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1636,
"cdna_end": null,
"cdna_length": 2425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "c.1551G>T",
"hgvs_p": "p.Gln517His",
"transcript": "XM_047427392.1",
"protein_id": "XP_047283348.1",
"transcript_support_level": null,
"aa_start": 517,
"aa_end": null,
"aa_length": 520,
"cds_start": 1551,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 2625,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "n.*439G>T",
"hgvs_p": null,
"transcript": "ENST00000526283.6",
"protein_id": "ENSP00000435290.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "n.1828G>T",
"hgvs_p": null,
"transcript": "ENST00000531484.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"hgvs_c": "n.*439G>T",
"hgvs_p": null,
"transcript": "ENST00000526283.6",
"protein_id": "ENSP00000435290.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000306723",
"gene_hgnc_id": null,
"hgvs_c": "n.*94C>A",
"hgvs_p": null,
"transcript": "ENST00000820466.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RELA",
"gene_hgnc_id": 9955,
"dbsnp": "rs951877648",
"frequency_reference_population": 0.000002053357,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205336,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.21582773327827454,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.153,
"revel_prediction": "Benign",
"alphamissense_score": 0.4478,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.018,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000406246.8",
"gene_symbol": "RELA",
"hgnc_id": 9955,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1644G>T",
"hgvs_p": "p.Gln548His"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000820466.1",
"gene_symbol": "ENSG00000306723",
"hgnc_id": null,
"effects": [
"downstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.*94C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}