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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: 14-57208758-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=57208758&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 57208758,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_006544.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1978C>G",
"hgvs_p": "p.Leu660Val",
"transcript": "NM_006544.4",
"protein_id": "NP_006535.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 708,
"cds_start": 1978,
"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": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1978C>G",
"hgvs_p": "p.Leu660Val",
"transcript": "ENST00000621441.5",
"protein_id": "ENSP00000484855.1",
"transcript_support_level": 1,
"aa_start": 660,
"aa_end": null,
"aa_length": 708,
"cds_start": 1978,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.1697C>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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.2092C>G",
"hgvs_p": "p.Leu698Val",
"transcript": "ENST00000854286.1",
"protein_id": "ENSP00000524345.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 746,
"cds_start": 2092,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1975C>G",
"hgvs_p": "p.Leu659Val",
"transcript": "ENST00000854289.1",
"protein_id": "ENSP00000524348.1",
"transcript_support_level": null,
"aa_start": 659,
"aa_end": null,
"aa_length": 707,
"cds_start": 1975,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1963C>G",
"hgvs_p": "p.Leu655Val",
"transcript": "ENST00000970531.1",
"protein_id": "ENSP00000640590.1",
"transcript_support_level": null,
"aa_start": 655,
"aa_end": null,
"aa_length": 703,
"cds_start": 1963,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1960C>G",
"hgvs_p": "p.Leu654Val",
"transcript": "ENST00000854290.1",
"protein_id": "ENSP00000524349.1",
"transcript_support_level": null,
"aa_start": 654,
"aa_end": null,
"aa_length": 702,
"cds_start": 1960,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1891C>G",
"hgvs_p": "p.Leu631Val",
"transcript": "ENST00000970530.1",
"protein_id": "ENSP00000640589.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 679,
"cds_start": 1891,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1783C>G",
"hgvs_p": "p.Leu595Val",
"transcript": "ENST00000340918.11",
"protein_id": "ENSP00000342100.7",
"transcript_support_level": 2,
"aa_start": 595,
"aa_end": null,
"aa_length": 643,
"cds_start": 1783,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1756C>G",
"hgvs_p": "p.Leu586Val",
"transcript": "ENST00000854291.1",
"protein_id": "ENSP00000524350.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 634,
"cds_start": 1756,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1579C>G",
"hgvs_p": "p.Leu527Val",
"transcript": "ENST00000854287.1",
"protein_id": "ENSP00000524346.1",
"transcript_support_level": null,
"aa_start": 527,
"aa_end": null,
"aa_length": 575,
"cds_start": 1579,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1540C>G",
"hgvs_p": "p.Leu514Val",
"transcript": "ENST00000854288.1",
"protein_id": "ENSP00000524347.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 562,
"cds_start": 1540,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.2092C>G",
"hgvs_p": "p.Leu698Val",
"transcript": "XM_005267272.4",
"protein_id": "XP_005267329.1",
"transcript_support_level": null,
"aa_start": 698,
"aa_end": null,
"aa_length": 746,
"cds_start": 2092,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "c.1813C>G",
"hgvs_p": "p.Leu605Val",
"transcript": "XM_047430882.1",
"protein_id": "XP_047286838.1",
"transcript_support_level": null,
"aa_start": 605,
"aa_end": null,
"aa_length": 653,
"cds_start": 1813,
"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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.*1812C>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": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EXOC5",
"gene_hgnc_id": 10696,
"hgvs_c": "n.*1812C>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": "rs541902167",
"frequency_reference_population": 0.00003418136,
"hom_count_reference_population": 0,
"allele_count_reference_population": 55,
"gnomad_exomes_af": 0.0000343219,
"gnomad_genomes_af": 0.0000328364,
"gnomad_exomes_ac": 50,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5565707087516785,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.471,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.387,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.19,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.998,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_006544.4",
"gene_symbol": "EXOC5",
"hgnc_id": 10696,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1978C>G",
"hgvs_p": "p.Leu660Val"
}
],
"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
}