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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: 19-36719332-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=36719332&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 36719332,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001387759.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001322917.1",
"protein_id": "NP_001309846.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000682579.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322917.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "ENST00000682579.1",
"protein_id": "ENSP00000507048.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001322917.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682579.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000360729.8",
"protein_id": "ENSP00000353957.3",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 616,
"cds_start": 515,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360729.8"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.515C>T",
"hgvs_p": "p.Thr172Met",
"transcript": "ENST00000585696.5",
"protein_id": "ENSP00000467379.1",
"transcript_support_level": 1,
"aa_start": 172,
"aa_end": null,
"aa_length": 616,
"cds_start": 515,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000585696.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Thr226Met",
"transcript": "NM_001387759.1",
"protein_id": "NP_001374688.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 670,
"cds_start": 677,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387759.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Thr226Met",
"transcript": "ENST00000910221.1",
"protein_id": "ENSP00000580280.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 670,
"cds_start": 677,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910221.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.677C>T",
"hgvs_p": "p.Thr226Met",
"transcript": "ENST00000915758.1",
"protein_id": "ENSP00000585817.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 670,
"cds_start": 677,
"cds_end": null,
"cds_length": 2013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915758.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001300979.2",
"protein_id": "NP_001287908.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300979.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001322913.1",
"protein_id": "NP_001309842.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322913.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001322914.1",
"protein_id": "NP_001309843.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322914.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001322915.1",
"protein_id": "NP_001309844.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322915.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001322916.1",
"protein_id": "NP_001309845.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322916.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001322918.1",
"protein_id": "NP_001309847.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322918.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001322919.1",
"protein_id": "NP_001309848.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322919.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001322920.1",
"protein_id": "NP_001309849.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001322920.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001387760.1",
"protein_id": "NP_001374689.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387760.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001387761.1",
"protein_id": "NP_001374690.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387761.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001387762.1",
"protein_id": "NP_001374691.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387762.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001387763.1",
"protein_id": "NP_001374692.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387763.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001387764.1",
"protein_id": "NP_001374693.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387764.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001387765.1",
"protein_id": "NP_001374694.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387765.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF567",
"gene_hgnc_id": 28696,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "NM_001387766.1",
"protein_id": "NP_001374695.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 647,
"cds_start": 608,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387766.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
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{
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{
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{
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{
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],
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"computational_score_selected": 0.011468172073364258,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.82,
"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,
"mitotip_score": null,
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"acmg_by_gene": [
{
"score": -6,
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"criteria": [
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"BP6_Moderate"
],
"verdict": "Likely_benign",
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{
"score": -6,
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"BP6_Moderate"
],
"verdict": "Likely_benign",
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],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}