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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: 14-20693734-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=20693734&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 20693734,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000397990.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "NM_001097577.3",
"protein_id": "NP_001091046.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 147,
"cds_start": 170,
"cds_end": null,
"cds_length": 444,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 748,
"mane_select": "ENST00000397990.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "ENST00000397990.5",
"protein_id": "ENSP00000381077.4",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 147,
"cds_start": 170,
"cds_end": null,
"cds_length": 444,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 748,
"mane_select": "NM_001097577.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "ENST00000336811.10",
"protein_id": "ENSP00000336762.6",
"transcript_support_level": 1,
"aa_start": 57,
"aa_end": null,
"aa_length": 147,
"cds_start": 170,
"cds_end": null,
"cds_length": 444,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-17-5621G>C",
"hgvs_p": null,
"transcript": "NM_002937.5",
"protein_id": "NP_002928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": "ENST00000555835.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-17-5621G>C",
"hgvs_p": null,
"transcript": "ENST00000555835.3",
"protein_id": "ENSP00000452245.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2061,
"mane_select": "NM_002937.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000259171",
"gene_hgnc_id": null,
"hgvs_c": "c.86+84G>C",
"hgvs_p": null,
"transcript": "ENST00000553909.1",
"protein_id": "ENSP00000477037.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 31,
"cds_start": -4,
"cds_end": null,
"cds_length": 96,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "NM_001145.4",
"protein_id": "NP_001136.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 147,
"cds_start": 170,
"cds_end": null,
"cds_length": 444,
"cdna_start": 770,
"cdna_end": null,
"cdna_length": 1222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "NM_001385271.1",
"protein_id": "NP_001372200.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 147,
"cds_start": 170,
"cds_end": null,
"cds_length": 444,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "NM_001385272.1",
"protein_id": "NP_001372201.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 147,
"cds_start": 170,
"cds_end": null,
"cds_length": 444,
"cdna_start": 420,
"cdna_end": null,
"cdna_length": 869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "NM_001385273.1",
"protein_id": "NP_001372202.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 147,
"cds_start": 170,
"cds_end": null,
"cds_length": 444,
"cdna_start": 325,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro",
"transcript": "NM_001385274.1",
"protein_id": "NP_001372203.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 147,
"cds_start": 170,
"cds_end": null,
"cds_length": 444,
"cdna_start": 280,
"cdna_end": null,
"cdna_length": 729,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGILA",
"gene_hgnc_id": 54482,
"hgvs_c": "n.661C>G",
"hgvs_p": null,
"transcript": "ENST00000554286.1",
"protein_id": null,
"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": 915,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EGILA",
"gene_hgnc_id": 54482,
"hgvs_c": "n.482C>G",
"hgvs_p": null,
"transcript": "NR_174964.1",
"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": 736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-18+84G>C",
"hgvs_p": null,
"transcript": "NM_001282192.2",
"protein_id": "NP_001269121.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2165,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-17-5621G>C",
"hgvs_p": null,
"transcript": "NM_001282193.2",
"protein_id": "NP_001269122.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-18+4860G>C",
"hgvs_p": null,
"transcript": "NM_194431.3",
"protein_id": "NP_919412.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-17-5621G>C",
"hgvs_p": null,
"transcript": "ENST00000397995.2",
"protein_id": "ENSP00000381081.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 853,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RNASE4",
"gene_hgnc_id": 10047,
"hgvs_c": "c.-18+4860G>C",
"hgvs_p": null,
"transcript": "ENST00000555597.1",
"protein_id": "ENSP00000451624.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 147,
"cds_start": -4,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"hgvs_c": "n.146-5132G>C",
"hgvs_p": null,
"transcript": "ENST00000554073.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000303727",
"gene_hgnc_id": null,
"hgvs_c": "n.153-6940C>G",
"hgvs_p": null,
"transcript": "ENST00000796740.1",
"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": 339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANG",
"gene_hgnc_id": 483,
"dbsnp": "rs770840869",
"frequency_reference_population": 0.0000047883154,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000478832,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8626402616500854,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.548,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.854,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.547,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "PM1,PP3_Moderate,BS2",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 4,
"pathogenic_score": 4,
"criteria": [
"PM1",
"PP3_Moderate",
"BS2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397990.5",
"gene_symbol": "ANG",
"hgnc_id": 483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.170G>C",
"hgvs_p": "p.Arg57Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000555835.3",
"gene_symbol": "RNASE4",
"hgnc_id": 10047,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-17-5621G>C",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000553909.1",
"gene_symbol": "ENSG00000259171",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.86+84G>C",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NR_174964.1",
"gene_symbol": "EGILA",
"hgnc_id": 54482,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.482C>G",
"hgvs_p": null
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000796740.1",
"gene_symbol": "ENSG00000303727",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.153-6940C>G",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:3",
"phenotype_combined": "not provided|Inborn genetic diseases|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}