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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: 16-67990904-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67990904&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67990904,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_022355.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "NM_022355.4",
"protein_id": "NP_071750.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393847.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022355.4"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000393847.6",
"protein_id": "ENSP00000377430.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022355.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393847.6"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000572888.5",
"protein_id": "ENSP00000458977.1",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000572888.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000867048.1",
"protein_id": "ENSP00000537107.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 499,
"cds_start": 826,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867048.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000970170.1",
"protein_id": "ENSP00000640229.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 499,
"cds_start": 826,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970170.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000867045.1",
"protein_id": "ENSP00000537104.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 491,
"cds_start": 826,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867045.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000970168.1",
"protein_id": "ENSP00000640227.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 491,
"cds_start": 826,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970168.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000970171.1",
"protein_id": "ENSP00000640230.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 491,
"cds_start": 826,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970171.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "NM_001369657.1",
"protein_id": "NP_001356586.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369657.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000867043.1",
"protein_id": "ENSP00000537102.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867043.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000867046.1",
"protein_id": "ENSP00000537105.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867046.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000867047.1",
"protein_id": "ENSP00000537106.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867047.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000867049.1",
"protein_id": "ENSP00000537108.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867049.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "ENST00000867050.1",
"protein_id": "ENSP00000537109.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 486,
"cds_start": 826,
"cds_end": null,
"cds_length": 1461,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867050.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Ala267Thr",
"transcript": "ENST00000867044.1",
"protein_id": "ENSP00000537103.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 477,
"cds_start": 799,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867044.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.799G>A",
"hgvs_p": "p.Ala267Thr",
"transcript": "ENST00000970169.1",
"protein_id": "ENSP00000640228.1",
"transcript_support_level": null,
"aa_start": 267,
"aa_end": null,
"aa_length": 477,
"cds_start": 799,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970169.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.352G>A",
"hgvs_p": "p.Ala118Thr",
"transcript": "NM_001324159.2",
"protein_id": "NP_001311088.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 328,
"cds_start": 352,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001324159.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Ala160Thr",
"transcript": "ENST00000573808.1",
"protein_id": "ENSP00000463604.1",
"transcript_support_level": 2,
"aa_start": 160,
"aa_end": null,
"aa_length": 160,
"cds_start": 478,
"cds_end": null,
"cds_length": 484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000573808.1"
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.202G>A",
"hgvs_p": "p.Ala68Thr",
"transcript": "ENST00000575510.5",
"protein_id": "ENSP00000462652.1",
"transcript_support_level": 3,
"aa_start": 68,
"aa_end": null,
"aa_length": 121,
"cds_start": 202,
"cds_end": null,
"cds_length": 368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000575510.5"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "XM_011523266.2",
"protein_id": "XP_011521568.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 499,
"cds_start": 826,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523266.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "XM_024450372.2",
"protein_id": "XP_024306140.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 499,
"cds_start": 826,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024450372.2"
},
{
"aa_ref": "A",
"aa_alt": "T",
"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": "DPEP2",
"gene_hgnc_id": 23028,
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr",
"transcript": "XM_024450373.2",
"protein_id": "XP_024306141.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 499,
"cds_start": 826,
"cds_end": null,
"cds_length": 1500,
"cdna_start": null,
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"biotype": "pseudogene",
"feature": "XR_933392.4"
}
],
"gene_symbol": "DPEP2",
"gene_hgnc_id": 23028,
"dbsnp": "rs371496343",
"frequency_reference_population": 0.0000092931505,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000820853,
"gnomad_genomes_af": 0.0000197112,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7092232704162598,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.461,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2121,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.718,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022355.4",
"gene_symbol": "DPEP2",
"hgnc_id": 23028,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Ala276Thr"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000570709.6",
"gene_symbol": "DUS2",
"hgnc_id": 26014,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-19+2951C>T",
"hgvs_p": null
}
],
"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
}