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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: 14-57209749-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=57209749&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 57209749,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006544.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1756C>G",
"hgvs_p": "p.Gln586Glu",
"transcript": "NM_006544.4",
"protein_id": "NP_006535.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 708,
"cds_start": 1756,
"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": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1756C>G",
"hgvs_p": "p.Gln586Glu",
"transcript": "ENST00000621441.5",
"protein_id": "ENSP00000484855.1",
"transcript_support_level": 1,
"aa_start": 586,
"aa_end": null,
"aa_length": 708,
"cds_start": 1756,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.1475C>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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1870C>G",
"hgvs_p": "p.Gln624Glu",
"transcript": "ENST00000854286.1",
"protein_id": "ENSP00000524345.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 746,
"cds_start": 1870,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1753C>G",
"hgvs_p": "p.Gln585Glu",
"transcript": "ENST00000854289.1",
"protein_id": "ENSP00000524348.1",
"transcript_support_level": null,
"aa_start": 585,
"aa_end": null,
"aa_length": 707,
"cds_start": 1753,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1741C>G",
"hgvs_p": "p.Gln581Glu",
"transcript": "ENST00000970531.1",
"protein_id": "ENSP00000640590.1",
"transcript_support_level": null,
"aa_start": 581,
"aa_end": null,
"aa_length": 703,
"cds_start": 1741,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1738C>G",
"hgvs_p": "p.Gln580Glu",
"transcript": "ENST00000854290.1",
"protein_id": "ENSP00000524349.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 702,
"cds_start": 1738,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1669C>G",
"hgvs_p": "p.Gln557Glu",
"transcript": "ENST00000970530.1",
"protein_id": "ENSP00000640589.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 679,
"cds_start": 1669,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1561C>G",
"hgvs_p": "p.Gln521Glu",
"transcript": "ENST00000340918.11",
"protein_id": "ENSP00000342100.7",
"transcript_support_level": 2,
"aa_start": 521,
"aa_end": null,
"aa_length": 643,
"cds_start": 1561,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1534C>G",
"hgvs_p": "p.Gln512Glu",
"transcript": "ENST00000854291.1",
"protein_id": "ENSP00000524350.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 634,
"cds_start": 1534,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1357C>G",
"hgvs_p": "p.Gln453Glu",
"transcript": "ENST00000854287.1",
"protein_id": "ENSP00000524346.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 575,
"cds_start": 1357,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1318C>G",
"hgvs_p": "p.Gln440Glu",
"transcript": "ENST00000854288.1",
"protein_id": "ENSP00000524347.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 562,
"cds_start": 1318,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1870C>G",
"hgvs_p": "p.Gln624Glu",
"transcript": "XM_005267272.4",
"protein_id": "XP_005267329.1",
"transcript_support_level": null,
"aa_start": 624,
"aa_end": null,
"aa_length": 746,
"cds_start": 1870,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1591C>G",
"hgvs_p": "p.Gln531Glu",
"transcript": "XM_047430882.1",
"protein_id": "XP_047286838.1",
"transcript_support_level": null,
"aa_start": 531,
"aa_end": null,
"aa_length": 653,
"cds_start": 1591,
"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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.*1590C>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": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.*1590C>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": "rs565984758",
"frequency_reference_population": 0.000006825676,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000411117,
"gnomad_genomes_af": 0.0000328679,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.444685161113739,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.234,
"revel_prediction": "Benign",
"alphamissense_score": 0.1066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.815,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.03,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_006544.4",
"gene_symbol": "EXOC5",
"hgnc_id": 10696,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1756C>G",
"hgvs_p": "p.Gln586Glu"
}
],
"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
}