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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: 2-238025360-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=238025360&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 238025360,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_080678.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "NM_080678.3",
"protein_id": "NP_542409.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 185,
"cds_start": 301,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000272930.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080678.3"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000272930.9",
"protein_id": "ENSP00000272930.4",
"transcript_support_level": 1,
"aa_start": 101,
"aa_end": null,
"aa_length": 185,
"cds_start": 301,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080678.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272930.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UBE2F-SCLY",
"gene_hgnc_id": 48339,
"hgvs_c": "n.282+8727C>G",
"hgvs_p": null,
"transcript": "ENST00000449191.1",
"protein_id": "ENSP00000456827.1",
"transcript_support_level": 3,
"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": "ENST00000449191.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.346C>G",
"hgvs_p": "p.Leu116Val",
"transcript": "ENST00000888993.1",
"protein_id": "ENSP00000559052.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 200,
"cds_start": 346,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888993.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.334C>G",
"hgvs_p": "p.Leu112Val",
"transcript": "ENST00000946658.1",
"protein_id": "ENSP00000616717.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 196,
"cds_start": 334,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946658.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.334C>G",
"hgvs_p": "p.Leu112Val",
"transcript": "ENST00000946660.1",
"protein_id": "ENSP00000616719.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 196,
"cds_start": 334,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946660.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.331C>G",
"hgvs_p": "p.Leu111Val",
"transcript": "ENST00000888997.1",
"protein_id": "ENSP00000559056.1",
"transcript_support_level": null,
"aa_start": 111,
"aa_end": null,
"aa_length": 195,
"cds_start": 331,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888997.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000928516.1",
"protein_id": "ENSP00000598575.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 193,
"cds_start": 301,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928516.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "NM_001278305.2",
"protein_id": "NP_001265234.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 185,
"cds_start": 301,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278305.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000612130.4",
"protein_id": "ENSP00000478474.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 185,
"cds_start": 301,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000612130.4"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000888988.1",
"protein_id": "ENSP00000559047.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 185,
"cds_start": 301,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888988.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000888996.1",
"protein_id": "ENSP00000559055.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 185,
"cds_start": 301,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888996.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000888999.1",
"protein_id": "ENSP00000559058.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 185,
"cds_start": 301,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888999.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000928519.1",
"protein_id": "ENSP00000598578.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 185,
"cds_start": 301,
"cds_end": null,
"cds_length": 558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928519.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.298C>G",
"hgvs_p": "p.Leu100Val",
"transcript": "ENST00000928512.1",
"protein_id": "ENSP00000598571.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 184,
"cds_start": 298,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928512.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000928514.1",
"protein_id": "ENSP00000598573.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 184,
"cds_start": 301,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928514.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000434655.5",
"protein_id": "ENSP00000406113.1",
"transcript_support_level": 5,
"aa_start": 101,
"aa_end": null,
"aa_length": 170,
"cds_start": 301,
"cds_end": null,
"cds_length": 515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434655.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "NM_001278308.2",
"protein_id": "NP_001265237.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 164,
"cds_start": 301,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278308.2"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.301C>G",
"hgvs_p": "p.Leu101Val",
"transcript": "ENST00000409633.5",
"protein_id": "ENSP00000387299.1",
"transcript_support_level": 3,
"aa_start": 101,
"aa_end": null,
"aa_length": 164,
"cds_start": 301,
"cds_end": null,
"cds_length": 495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409633.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.235C>G",
"hgvs_p": "p.Leu79Val",
"transcript": "ENST00000409332.5",
"protein_id": "ENSP00000387060.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 163,
"cds_start": 235,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409332.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.235C>G",
"hgvs_p": "p.Leu79Val",
"transcript": "ENST00000946656.1",
"protein_id": "ENSP00000616715.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 163,
"cds_start": 235,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946656.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2F",
"gene_hgnc_id": 12480,
"hgvs_c": "c.229C>G",
"hgvs_p": "p.Leu77Val",
"transcript": "NM_001278306.2",
"protein_id": "NP_001265235.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 161,
"cds_start": 229,
"cds_end": null,
"cds_length": 486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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"criteria": [
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"BP4"
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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],
"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
}