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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: 19-13886580-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=13886580&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 13886580,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000586783.6",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1669-525G>T",
"hgvs_p": null,
"transcript": "NM_001345843.2",
"protein_id": "NP_001332772.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": "ENST00000586783.6",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1669-525G>T",
"hgvs_p": null,
"transcript": "ENST00000586783.6",
"protein_id": "ENSP00000465822.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": "NM_001345843.2",
"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": 9,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1669-525G>T",
"hgvs_p": null,
"transcript": "NM_001393645.1",
"protein_id": "NP_001380574.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2541,
"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": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1669-525G>T",
"hgvs_p": null,
"transcript": "NM_001393646.1",
"protein_id": "NP_001380575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 668,
"cds_start": -4,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2638,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1669-525G>T",
"hgvs_p": null,
"transcript": "NM_001345844.2",
"protein_id": "NP_001332773.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2792,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1669-525G>T",
"hgvs_p": null,
"transcript": "NM_024323.5",
"protein_id": "NP_077299.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2448,
"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": 8,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1669-525G>T",
"hgvs_p": null,
"transcript": "ENST00000346736.6",
"protein_id": "ENSP00000254336.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 637,
"cds_start": -4,
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"cds_length": 1914,
"cdna_start": null,
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"cdna_length": 2489,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1315-525G>T",
"hgvs_p": null,
"transcript": "NM_001345846.2",
"protein_id": "NP_001332775.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2710,
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1315-525G>T",
"hgvs_p": null,
"transcript": "NM_001393647.1",
"protein_id": "NP_001380576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 550,
"cds_start": -4,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2366,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 5,
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"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.1315-525G>T",
"hgvs_p": null,
"transcript": "NM_001345847.2",
"protein_id": "NP_001332776.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 519,
"cds_start": -4,
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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": 8,
"intron_rank": 5,
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"gene_symbol": "BRME1",
"gene_hgnc_id": 28153,
"hgvs_c": "c.394-525G>T",
"hgvs_p": null,
"transcript": "NM_001345848.2",
"protein_id": "NP_001332777.2",
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},
{
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],
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"gene_symbol": "BRME1",
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"hgvs_c": "c.394-525G>T",
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"transcript": "ENST00000591586.5",
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},
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],
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"gene_symbol": "BRME1",
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"hgvs_c": "c.394-525G>T",
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"transcript": "NM_001393648.1",
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},
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],
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"gene_symbol": "BRME1",
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"transcript": "ENST00000588115.5",
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},
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],
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},
{
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],
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"gene_symbol": "BRME1",
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},
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],
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},
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],
"exon_rank": null,
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"gene_symbol": "BRME1",
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"hgvs_c": "c.1669-525G>T",
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"transcript": "XM_024451716.2",
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},
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],
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"exon_count": 8,
"intron_rank": 6,
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"gene_symbol": "BRME1",
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"hgvs_c": "c.1669-525G>T",
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],
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"gene_symbol": "BRME1",
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"transcript": "XM_047439431.1",
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "BRME1",
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"hgvs_c": "c.811-525G>T",
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},
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"splice_prediction_selected": "Benign",
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{
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"verdict": "Benign",
"transcript": "ENST00000586783.6",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
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"custom_annotations": null
}
],
"message": null
}