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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: 14-57210005-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=57210005&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 57210005,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006544.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Lys557Arg",
"transcript": "NM_006544.4",
"protein_id": "NP_006535.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 708,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000621441.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006544.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Lys557Arg",
"transcript": "ENST00000621441.5",
"protein_id": "ENSP00000484855.1",
"transcript_support_level": 1,
"aa_start": 557,
"aa_end": null,
"aa_length": 708,
"cds_start": 1670,
"cds_end": null,
"cds_length": 2127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006544.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621441.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.1389A>G",
"hgvs_p": null,
"transcript": "ENST00000554011.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000554011.5"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1784A>G",
"hgvs_p": "p.Lys595Arg",
"transcript": "ENST00000854286.1",
"protein_id": "ENSP00000524345.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 746,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854286.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1667A>G",
"hgvs_p": "p.Lys556Arg",
"transcript": "ENST00000854289.1",
"protein_id": "ENSP00000524348.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 707,
"cds_start": 1667,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854289.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Lys552Arg",
"transcript": "ENST00000970531.1",
"protein_id": "ENSP00000640590.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 703,
"cds_start": 1655,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970531.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1652A>G",
"hgvs_p": "p.Lys551Arg",
"transcript": "ENST00000854290.1",
"protein_id": "ENSP00000524349.1",
"transcript_support_level": null,
"aa_start": 551,
"aa_end": null,
"aa_length": 702,
"cds_start": 1652,
"cds_end": null,
"cds_length": 2109,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854290.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1583A>G",
"hgvs_p": "p.Lys528Arg",
"transcript": "ENST00000970530.1",
"protein_id": "ENSP00000640589.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 679,
"cds_start": 1583,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970530.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1475A>G",
"hgvs_p": "p.Lys492Arg",
"transcript": "ENST00000340918.11",
"protein_id": "ENSP00000342100.7",
"transcript_support_level": 2,
"aa_start": 492,
"aa_end": null,
"aa_length": 643,
"cds_start": 1475,
"cds_end": null,
"cds_length": 1932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340918.11"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1448A>G",
"hgvs_p": "p.Lys483Arg",
"transcript": "ENST00000854291.1",
"protein_id": "ENSP00000524350.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 634,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854291.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1271A>G",
"hgvs_p": "p.Lys424Arg",
"transcript": "ENST00000854287.1",
"protein_id": "ENSP00000524346.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 575,
"cds_start": 1271,
"cds_end": null,
"cds_length": 1728,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854287.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1232A>G",
"hgvs_p": "p.Lys411Arg",
"transcript": "ENST00000854288.1",
"protein_id": "ENSP00000524347.1",
"transcript_support_level": null,
"aa_start": 411,
"aa_end": null,
"aa_length": 562,
"cds_start": 1232,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854288.1"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1784A>G",
"hgvs_p": "p.Lys595Arg",
"transcript": "XM_005267272.4",
"protein_id": "XP_005267329.1",
"transcript_support_level": null,
"aa_start": 595,
"aa_end": null,
"aa_length": 746,
"cds_start": 1784,
"cds_end": null,
"cds_length": 2241,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005267272.4"
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1505A>G",
"hgvs_p": "p.Lys502Arg",
"transcript": "XM_047430882.1",
"protein_id": "XP_047286838.1",
"transcript_support_level": null,
"aa_start": 502,
"aa_end": null,
"aa_length": 653,
"cds_start": 1505,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430882.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.*1504A>G",
"hgvs_p": null,
"transcript": "ENST00000555148.5",
"protein_id": "ENSP00000451082.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555148.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.*1504A>G",
"hgvs_p": null,
"transcript": "ENST00000555148.5",
"protein_id": "ENSP00000451082.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000555148.5"
}
],
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"dbsnp": null,
"frequency_reference_population": 6.91086e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.91086e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5574163198471069,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.242,
"revel_prediction": "Benign",
"alphamissense_score": 0.0909,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.903,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006544.4",
"gene_symbol": "EXOC5",
"hgnc_id": 10696,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1670A>G",
"hgvs_p": "p.Lys557Arg"
}
],
"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
}