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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: 8-11755089-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=11755089&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 11755089,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001308093.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "NM_001308093.3",
"protein_id": "NP_001295022.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000532059.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308093.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000532059.6",
"protein_id": "ENSP00000435712.1",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001308093.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532059.6"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.974G>A",
"hgvs_p": "p.Arg325Lys",
"transcript": "ENST00000886854.1",
"protein_id": "ENSP00000556913.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 449,
"cds_start": 974,
"cds_end": null,
"cds_length": 1350,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886854.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000886846.1",
"protein_id": "ENSP00000556905.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886846.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000886848.1",
"protein_id": "ENSP00000556907.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886848.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000886851.1",
"protein_id": "ENSP00000556910.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886851.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000886852.1",
"protein_id": "ENSP00000556911.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886852.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000886853.1",
"protein_id": "ENSP00000556912.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886853.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000952124.1",
"protein_id": "ENSP00000622183.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952124.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000952125.1",
"protein_id": "ENSP00000622184.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952125.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000952126.1",
"protein_id": "ENSP00000622185.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952126.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Lys",
"transcript": "ENST00000952127.1",
"protein_id": "ENSP00000622186.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 443,
"cds_start": 956,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952127.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "NM_002052.5",
"protein_id": "NP_002043.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002052.5"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000335135.8",
"protein_id": "ENSP00000334458.4",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335135.8"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000622443.3",
"protein_id": "ENSP00000482268.2",
"transcript_support_level": 5,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622443.3"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000886845.1",
"protein_id": "ENSP00000556904.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886845.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000886847.1",
"protein_id": "ENSP00000556906.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886847.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000886849.1",
"protein_id": "ENSP00000556908.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886849.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000886850.1",
"protein_id": "ENSP00000556909.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886850.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000886855.1",
"protein_id": "ENSP00000556914.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886855.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000952123.1",
"protein_id": "ENSP00000622182.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952123.1"
},
{
"aa_ref": "R",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GATA4",
"gene_hgnc_id": 4173,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318Lys",
"transcript": "ENST00000952128.1",
"protein_id": "ENSP00000622187.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 442,
"cds_start": 953,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
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"computational_score_selected": 0.8637012839317322,
"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
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"acmg_by_gene": [
{
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"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001308093.3",
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],
"clinvar_disease": "Atrioventricular septal defect 4",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Atrioventricular septal defect 4",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}