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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: 14-57231518-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=57231518&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"PM2",
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXOC5",
"hgnc_id": 10696,
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Ile379Thr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -4,
"transcript": "NM_006544.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BS2",
"acmg_score": -4,
"allele_count_reference_population": 5,
"alphamissense_prediction": null,
"alphamissense_score": 0.0809,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "14",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.25047430396080017,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 708,
"aa_ref": "I",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10486,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006544.4",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Ile379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000621441.5",
"protein_coding": true,
"protein_id": "NP_006535.1",
"strand": false,
"transcript": "NM_006544.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 708,
"aa_ref": "I",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10486,
"cdna_start": 1393,
"cds_end": null,
"cds_length": 2127,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000621441.5",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Ile379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006544.4",
"protein_coding": true,
"protein_id": "ENSP00000484855.1",
"strand": false,
"transcript": "ENST00000621441.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3661,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000554011.5",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "n.855T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000554011.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 746,
"aa_ref": "I",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4793,
"cdna_start": 1576,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000854286.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1250T>C",
"hgvs_p": "p.Ile417Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524345.1",
"strand": false,
"transcript": "ENST00000854286.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 707,
"aa_ref": "I",
"aa_start": 378,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4179,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 2124,
"cds_start": 1133,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000854289.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1133T>C",
"hgvs_p": "p.Ile378Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524348.1",
"strand": false,
"transcript": "ENST00000854289.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 703,
"aa_ref": "I",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 1366,
"cds_end": null,
"cds_length": 2112,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970531.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Ile379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640590.1",
"strand": false,
"transcript": "ENST00000970531.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 702,
"aa_ref": "I",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4108,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 2109,
"cds_start": 1118,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000854290.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1118T>C",
"hgvs_p": "p.Ile373Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524349.1",
"strand": false,
"transcript": "ENST00000854290.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 679,
"aa_ref": "I",
"aa_start": 379,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4808,
"cdna_start": 1328,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1136,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000970530.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1136T>C",
"hgvs_p": "p.Ile379Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640589.1",
"strand": false,
"transcript": "ENST00000970530.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 643,
"aa_ref": "I",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1932,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000340918.11",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.941T>C",
"hgvs_p": "p.Ile314Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342100.7",
"strand": false,
"transcript": "ENST00000340918.11",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 634,
"aa_ref": "I",
"aa_start": 305,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3868,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1905,
"cds_start": 914,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000854291.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.914T>C",
"hgvs_p": "p.Ile305Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524350.1",
"strand": false,
"transcript": "ENST00000854291.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 575,
"aa_ref": "I",
"aa_start": 246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4146,
"cdna_start": 929,
"cds_end": null,
"cds_length": 1728,
"cds_start": 737,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854287.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.737T>C",
"hgvs_p": "p.Ile246Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524346.1",
"strand": false,
"transcript": "ENST00000854287.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 562,
"aa_ref": "I",
"aa_start": 233,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3957,
"cdna_start": 949,
"cds_end": null,
"cds_length": 1689,
"cds_start": 698,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000854288.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Ile233Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524347.1",
"strand": false,
"transcript": "ENST00000854288.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 746,
"aa_ref": "I",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10600,
"cdna_start": 1507,
"cds_end": null,
"cds_length": 2241,
"cds_start": 1250,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_005267272.4",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.1250T>C",
"hgvs_p": "p.Ile417Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267329.1",
"strand": false,
"transcript": "XM_005267272.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 653,
"aa_ref": "I",
"aa_start": 324,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10322,
"cdna_start": 1229,
"cds_end": null,
"cds_length": 1962,
"cds_start": 971,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "XM_047430882.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "c.971T>C",
"hgvs_p": "p.Ile324Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286838.1",
"strand": false,
"transcript": "XM_047430882.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000555148.5",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "n.*970T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451082.1",
"strand": false,
"transcript": "ENST00000555148.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000555148.5",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "n.*970T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000451082.1",
"strand": false,
"transcript": "ENST00000555148.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 693,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000556629.1",
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"hgvs_c": "n.*53T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000556629.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": 0.0000034325572,
"gene_hgnc_id": 10696,
"gene_symbol": "EXOC5",
"gnomad_exomes_ac": 5,
"gnomad_exomes_af": 0.00000343256,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 8.81,
"pos": 57231518,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.206,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_006544.4"
}
]
}