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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: 9-113169542-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=113169542&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FKBP15",
"hgnc_id": 23397,
"hgvs_c": "c.3167C>G",
"hgvs_p": "p.Ser1056Cys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015258.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.1015,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "9",
"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": 0.05097454786300659,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8766,
"cdna_start": 3201,
"cds_end": null,
"cds_length": 3660,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_015258.2",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3167C>G",
"hgvs_p": "p.Ser1056Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000238256.8",
"protein_coding": true,
"protein_id": "NP_056073.1",
"strand": false,
"transcript": "NM_015258.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8766,
"cdna_start": 3201,
"cds_end": null,
"cds_length": 3660,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000238256.8",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3167C>G",
"hgvs_p": "p.Ser1056Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015258.2",
"protein_coding": true,
"protein_id": "ENSP00000238256.3",
"strand": false,
"transcript": "ENST00000238256.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1219,
"aa_ref": "S",
"aa_start": 1056,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8807,
"cdna_start": 3242,
"cds_end": null,
"cds_length": 3660,
"cds_start": 3167,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000446284.6",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3167C>G",
"hgvs_p": "p.Ser1056Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416158.2",
"strand": false,
"transcript": "ENST00000446284.6",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1256,
"aa_ref": "S",
"aa_start": 1050,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5880,
"cdna_start": 3400,
"cds_end": null,
"cds_length": 3771,
"cds_start": 3149,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000693271.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3149C>G",
"hgvs_p": "p.Ser1050Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508580.1",
"strand": false,
"transcript": "ENST00000693271.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "S",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4302,
"cdna_start": 3235,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3137,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000852798.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3137C>G",
"hgvs_p": "p.Ser1046Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522857.1",
"strand": false,
"transcript": "ENST00000852798.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1203,
"aa_ref": "S",
"aa_start": 1040,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8899,
"cdna_start": 3380,
"cds_end": null,
"cds_length": 3612,
"cds_start": 3119,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000687395.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3119C>G",
"hgvs_p": "p.Ser1040Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509797.1",
"strand": false,
"transcript": "ENST00000687395.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1194,
"aa_ref": "S",
"aa_start": 1031,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4199,
"cdna_start": 3155,
"cds_end": null,
"cds_length": 3585,
"cds_start": 3092,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000947249.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3092C>G",
"hgvs_p": "p.Ser1031Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000617308.1",
"strand": false,
"transcript": "ENST00000947249.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1173,
"aa_ref": "S",
"aa_start": 1010,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7248,
"cdna_start": 3082,
"cds_end": null,
"cds_length": 3522,
"cds_start": 3029,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000689059.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3029C>G",
"hgvs_p": "p.Ser1010Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508739.1",
"strand": false,
"transcript": "ENST00000689059.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "S",
"aa_start": 1007,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4142,
"cdna_start": 3090,
"cds_end": null,
"cds_length": 3513,
"cds_start": 3020,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000937401.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3020C>G",
"hgvs_p": "p.Ser1007Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607460.1",
"strand": false,
"transcript": "ENST00000937401.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1161,
"aa_ref": "S",
"aa_start": 998,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4130,
"cdna_start": 3078,
"cds_end": null,
"cds_length": 3486,
"cds_start": 2993,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000852799.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.2993C>G",
"hgvs_p": "p.Ser998Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522858.1",
"strand": false,
"transcript": "ENST00000852799.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1103,
"aa_ref": "S",
"aa_start": 940,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 2967,
"cds_end": null,
"cds_length": 3312,
"cds_start": 2819,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000937400.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.2819C>G",
"hgvs_p": "p.Ser940Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607459.1",
"strand": false,
"transcript": "ENST00000937400.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1209,
"aa_ref": "S",
"aa_start": 1046,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8233,
"cdna_start": 3171,
"cds_end": null,
"cds_length": 3630,
"cds_start": 3137,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "XM_006717018.3",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.3137C>G",
"hgvs_p": "p.Ser1046Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717081.1",
"strand": false,
"transcript": "XM_006717018.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "S",
"aa_start": 988,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8147,
"cdna_start": 3085,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2963,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_006717019.2",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "c.2963C>G",
"hgvs_p": "p.Ser988Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006717082.1",
"strand": false,
"transcript": "XM_006717019.2",
"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": 7165,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000685068.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "n.*1332C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510494.1",
"strand": false,
"transcript": "ENST00000685068.1",
"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": 7280,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000685945.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "n.*2893C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000510324.1",
"strand": false,
"transcript": "ENST00000685945.1",
"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": 8965,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000686727.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "n.*3638C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509868.1",
"strand": false,
"transcript": "ENST00000686727.1",
"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": 7374,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000688113.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "n.*2942C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508769.1",
"strand": false,
"transcript": "ENST00000688113.1",
"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": 7386,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000688949.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "n.*1352C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000509717.1",
"strand": false,
"transcript": "ENST00000688949.1",
"transcript_support_level": null
},
{
"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": 10554,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000689480.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "n.6388C>G",
"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": "ENST00000689480.1",
"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": 8669,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000690399.1",
"gene_hgnc_id": 23397,
"gene_symbol": "FKBP15",
"hgvs_c": "n.*4237C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000508774.1",
"strand": false,
"transcript": "ENST00000690399.1",
"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": 8740,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000690630.1",
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