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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: 16-67286320-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67286320&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67286320,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001129727.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "NM_001129729.3",
"protein_id": "NP_001123201.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379344.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129729.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "ENST00000379344.8",
"protein_id": "ENSP00000368649.3",
"transcript_support_level": 1,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001129729.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379344.8"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2246G>A",
"hgvs_p": "p.Arg749His",
"transcript": "ENST00000450733.5",
"protein_id": "ENSP00000398030.1",
"transcript_support_level": 1,
"aa_start": 749,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2246,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450733.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "n.*1198+1863G>A",
"hgvs_p": null,
"transcript": "ENST00000393966.1",
"protein_id": "ENSP00000462601.1",
"transcript_support_level": 1,
"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": "ENST00000393966.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "NM_001129727.3",
"protein_id": "NP_001123199.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129727.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "NM_001129728.2",
"protein_id": "NP_001123200.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129728.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "ENST00000360461.9",
"protein_id": "ENSP00000353646.5",
"transcript_support_level": 2,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360461.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "ENST00000427155.6",
"protein_id": "ENSP00000401118.2",
"transcript_support_level": 5,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000427155.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "ENST00000869899.1",
"protein_id": "ENSP00000539958.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869899.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2486G>A",
"hgvs_p": "p.Arg829His",
"transcript": "ENST00000934066.1",
"protein_id": "ENSP00000604125.1",
"transcript_support_level": null,
"aa_start": 829,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2486,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934066.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "ENST00000953479.1",
"protein_id": "ENSP00000623538.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1190,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953479.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2471G>A",
"hgvs_p": "p.Arg824His",
"transcript": "ENST00000953477.1",
"protein_id": "ENSP00000623536.1",
"transcript_support_level": null,
"aa_start": 824,
"aa_end": null,
"aa_length": 1185,
"cds_start": 2471,
"cds_end": null,
"cds_length": 3558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953477.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2393G>A",
"hgvs_p": "p.Arg798His",
"transcript": "ENST00000953478.1",
"protein_id": "ENSP00000623537.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1159,
"cds_start": 2393,
"cds_end": null,
"cds_length": 3480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953478.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2342G>A",
"hgvs_p": "p.Arg781His",
"transcript": "ENST00000869900.1",
"protein_id": "ENSP00000539959.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2342,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869900.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2342G>A",
"hgvs_p": "p.Arg781His",
"transcript": "ENST00000953481.1",
"protein_id": "ENSP00000623540.1",
"transcript_support_level": null,
"aa_start": 781,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2342,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953481.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "ENST00000953480.1",
"protein_id": "ENSP00000623539.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953480.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2246G>A",
"hgvs_p": "p.Arg749His",
"transcript": "NM_001129731.3",
"protein_id": "NP_001123203.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 1110,
"cds_start": 2246,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001129731.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2393G>A",
"hgvs_p": "p.Arg798His",
"transcript": "ENST00000869901.1",
"protein_id": "ENSP00000539960.1",
"transcript_support_level": null,
"aa_start": 798,
"aa_end": null,
"aa_length": 1081,
"cds_start": 2393,
"cds_end": null,
"cds_length": 3246,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869901.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "XM_011522985.3",
"protein_id": "XP_011521287.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522985.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "XM_011522986.3",
"protein_id": "XP_011521288.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522986.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "XM_011522987.3",
"protein_id": "XP_011521289.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522987.3"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLEKHG4",
"gene_hgnc_id": 24501,
"hgvs_c": "c.2489G>A",
"hgvs_p": "p.Arg830His",
"transcript": "XM_011522988.3",
"protein_id": "XP_011521290.1",
"transcript_support_level": null,
"aa_start": 830,
"aa_end": null,
"aa_length": 1191,
"cds_start": 2489,
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],
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"computational_score_selected": 0.0014715790748596191,
"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.48,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
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"acmg_score": -14,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -14,
"benign_score": 14,
"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001129727.3",
"gene_symbol": "PLEKHG4",
"hgnc_id": 24501,
"effects": [
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],
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],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}