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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: 17-49611316-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=49611316&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 49611316,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003563.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_001007228.2",
"protein_id": "NP_001007229.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000504102.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007228.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000504102.6",
"protein_id": "ENSP00000425905.1",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001007228.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504102.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000393328.6",
"protein_id": "ENSP00000377001.2",
"transcript_support_level": 1,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393328.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_001007226.1",
"protein_id": "NP_001007227.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007226.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_001007227.1",
"protein_id": "NP_001007228.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007227.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_001007229.1",
"protein_id": "NP_001007230.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007229.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_001007230.1",
"protein_id": "NP_001007231.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001007230.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_001370730.1",
"protein_id": "NP_001357659.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370730.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_001370731.1",
"protein_id": "NP_001357660.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370731.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_001370732.1",
"protein_id": "NP_001357661.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370732.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "NM_003563.3",
"protein_id": "NP_003554.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003563.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000347630.6",
"protein_id": "ENSP00000240327.2",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347630.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000503676.5",
"protein_id": "ENSP00000420908.1",
"transcript_support_level": 2,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503676.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000509079.6",
"protein_id": "ENSP00000426986.2",
"transcript_support_level": 5,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509079.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000514121.6",
"protein_id": "ENSP00000424119.2",
"transcript_support_level": 4,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514121.6"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000665825.1",
"protein_id": "ENSP00000499562.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000665825.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000854669.1",
"protein_id": "ENSP00000524728.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854669.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000854670.1",
"protein_id": "ENSP00000524729.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854670.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000854671.1",
"protein_id": "ENSP00000524730.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854671.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000854672.1",
"protein_id": "ENSP00000524731.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854672.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000854673.1",
"protein_id": "ENSP00000524732.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854673.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPOP",
"gene_hgnc_id": 11254,
"hgvs_c": "c.622G>A",
"hgvs_p": "p.Gly208Ser",
"transcript": "ENST00000854674.1",
"protein_id": "ENSP00000524733.1",
"transcript_support_level": null,
"aa_start": 208,
"aa_end": null,
"aa_length": 374,
"cds_start": 622,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854674.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": 0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
"score": 8,
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"criteria": [
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"PM5",
"PP2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_003563.3",
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"inheritance_mode": "AD",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}