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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: 17-49619281-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49619281&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SPOP",
"hgnc_id": 11254,
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"inheritance_mode": "AD",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_003563.3",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Moderate",
"acmg_score": 9,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9994,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.34,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9290399551391602,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001007228.2",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000504102.6",
"protein_coding": true,
"protein_id": "NP_001007229.1",
"strand": false,
"transcript": "NM_001007228.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000504102.6",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001007228.2",
"protein_coding": true,
"protein_id": "ENSP00000425905.1",
"strand": false,
"transcript": "ENST00000504102.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2985,
"cdna_start": 671,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000393328.6",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377001.2",
"strand": false,
"transcript": "ENST00000393328.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3090,
"cdna_start": 776,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001007226.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007227.1",
"strand": false,
"transcript": "NM_001007226.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 654,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001007227.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007228.1",
"strand": false,
"transcript": "NM_001007227.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2967,
"cdna_start": 653,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001007229.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007230.1",
"strand": false,
"transcript": "NM_001007229.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3019,
"cdna_start": 705,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001007230.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001007231.1",
"strand": false,
"transcript": "NM_001007230.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3139,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370730.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357659.1",
"strand": false,
"transcript": "NM_001370730.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3088,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370731.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357660.1",
"strand": false,
"transcript": "NM_001370731.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2705,
"cdna_start": 391,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001370732.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001357661.1",
"strand": false,
"transcript": "NM_001370732.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3038,
"cdna_start": 724,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_003563.3",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_003554.1",
"strand": false,
"transcript": "NM_003563.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2965,
"cdna_start": 653,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000347630.6",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000240327.2",
"strand": false,
"transcript": "ENST00000347630.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1932,
"cdna_start": 937,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000503676.5",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420908.1",
"strand": false,
"transcript": "ENST00000503676.5",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1860,
"cdna_start": 652,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000509079.6",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426986.2",
"strand": false,
"transcript": "ENST00000509079.6",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 763,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000514121.6",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000424119.2",
"strand": false,
"transcript": "ENST00000514121.6",
"transcript_support_level": 4
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2480,
"cdna_start": 809,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000665825.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499562.1",
"strand": false,
"transcript": "ENST00000665825.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854669.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524728.1",
"strand": false,
"transcript": "ENST00000854669.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1886,
"cdna_start": 690,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854670.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524729.1",
"strand": false,
"transcript": "ENST00000854670.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": 587,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000854671.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524730.1",
"strand": false,
"transcript": "ENST00000854671.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1671,
"cdna_start": 498,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000854672.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000524731.1",
"strand": false,
"transcript": "ENST00000854672.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 374,
"aa_ref": "F",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 658,
"cds_end": null,
"cds_length": 1125,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000854673.1",
"gene_hgnc_id": 11254,
"gene_symbol": "SPOP",
"hgvs_c": "c.305T>C",
"hgvs_p": "p.Phe102Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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