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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: 6-549199-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=549199&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 549199,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_018303.6",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "NM_018303.6",
"protein_id": "NP_060773.3",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "ENST00000230449.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "ENST00000230449.9",
"protein_id": "ENSP00000230449.4",
"transcript_support_level": 1,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": "NM_018303.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_017011022.2",
"protein_id": "XP_016866511.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 4226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_017011023.2",
"protein_id": "XP_016866512.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 4229,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_017011024.2",
"protein_id": "XP_016866513.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 4303,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419007.1",
"protein_id": "XP_047274963.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3211,
"cdna_end": null,
"cdna_length": 5289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419008.1",
"protein_id": "XP_047274964.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 4300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419009.1",
"protein_id": "XP_047274965.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2466,
"cdna_end": null,
"cdna_length": 4314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419010.1",
"protein_id": "XP_047274966.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 4392,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419011.1",
"protein_id": "XP_047274967.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3197,
"cdna_end": null,
"cdna_length": 5045,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419012.1",
"protein_id": "XP_047274968.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 3197,
"cdna_end": null,
"cdna_length": 5048,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419013.1",
"protein_id": "XP_047274969.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 4388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419014.1",
"protein_id": "XP_047274970.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 4391,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419015.1",
"protein_id": "XP_047274971.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 924,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2775,
"cdna_start": 2544,
"cdna_end": null,
"cdna_length": 4395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_017011025.2",
"protein_id": "XP_016866514.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 847,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 8767,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419016.1",
"protein_id": "XP_047274972.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 847,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2452,
"cdna_end": null,
"cdna_length": 8841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_047419017.1",
"protein_id": "XP_047274973.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 847,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2544,
"cdna_start": 2540,
"cdna_end": null,
"cdna_length": 8929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu",
"transcript": "XM_017011026.2",
"protein_id": "XP_016866515.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 750,
"cds_start": 2214,
"cds_end": null,
"cds_length": 2253,
"cdna_start": 2378,
"cdna_end": null,
"cdna_length": 2470,
"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": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"hgvs_c": "n.2540C>G",
"hgvs_p": null,
"transcript": "NR_073064.2",
"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": 4618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "EXOC2",
"gene_hgnc_id": 24968,
"dbsnp": "rs147990653",
"frequency_reference_population": 0.00004708658,
"hom_count_reference_population": 0,
"allele_count_reference_population": 76,
"gnomad_exomes_af": 0.0000218909,
"gnomad_genomes_af": 0.000288995,
"gnomad_exomes_ac": 32,
"gnomad_genomes_ac": 44,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1576365828514099,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.264,
"revel_prediction": "Benign",
"alphamissense_score": 0.8793,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.19,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.271,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_018303.6",
"gene_symbol": "EXOC2",
"hgnc_id": 24968,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.2214C>G",
"hgvs_p": "p.Phe738Leu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}