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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: 3-11582737-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=11582737&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 11582737,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000430365.7",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.273-17718G>A",
"hgvs_p": null,
"transcript": "NM_001128219.3",
"protein_id": "NP_001121691.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": "ENST00000430365.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.273-17718G>A",
"hgvs_p": null,
"transcript": "ENST00000430365.7",
"protein_id": "ENSP00000404251.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 296,
"cds_start": -4,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3775,
"mane_select": "NM_001128219.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.270-17718G>A",
"hgvs_p": null,
"transcript": "ENST00000426568.5",
"protein_id": "ENSP00000413030.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1428,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.255-17718G>A",
"hgvs_p": null,
"transcript": "ENST00000273038.7",
"protein_id": "ENSP00000273038.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.270-17718G>A",
"hgvs_p": null,
"transcript": "NM_001284390.2",
"protein_id": "NP_001271319.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 295,
"cds_start": -4,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.255-17718G>A",
"hgvs_p": null,
"transcript": "NM_014667.4",
"protein_id": "NP_055482.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 290,
"cds_start": -4,
"cds_end": null,
"cds_length": 873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3519,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.78-17718G>A",
"hgvs_p": null,
"transcript": "NM_001284391.1",
"protein_id": "NP_001271320.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.78-17718G>A",
"hgvs_p": null,
"transcript": "ENST00000413604.5",
"protein_id": "ENSP00000404624.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 231,
"cds_start": -4,
"cds_end": null,
"cds_length": 696,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.255-17718G>A",
"hgvs_p": null,
"transcript": "ENST00000445411.5",
"protein_id": "ENSP00000412923.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 222,
"cds_start": -4,
"cds_end": null,
"cds_length": 671,
"cdna_start": null,
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"cdna_length": 726,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "VGLL4",
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"hgvs_c": "c.255-17718G>A",
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"transcript": "ENST00000418000.5",
"protein_id": "ENSP00000394439.1",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 3,
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"gene_symbol": "VGLL4",
"gene_hgnc_id": 28966,
"hgvs_c": "c.243-17718G>A",
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"transcript": "ENST00000458499.5",
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},
{
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],
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"transcript": "ENST00000417206.6",
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},
{
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],
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"gene_symbol": "VGLL4",
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},
{
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],
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},
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],
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},
{
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],
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"hgvs_c": "c.282-17718G>A",
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},
{
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],
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"gene_symbol": "VGLL4",
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"hgvs_c": "c.258-17718G>A",
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],
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},
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],
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"gene_symbol": "VGLL4",
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"hgvs_c": "c.78-17718G>A",
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"transcript": "XM_047449261.1",
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},
{
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],
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"intron_rank": 3,
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"gene_symbol": "VGLL4",
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"hgvs_c": "c.282-17718G>A",
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"transcript": "XM_047449262.1",
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{
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},
{
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.79,
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
"transcript": "ENST00000430365.7",
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"inheritance_mode": "AR",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}