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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: 9-92059864-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=92059864&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 92059864,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000262554.7",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.561-556T>C",
"hgvs_p": null,
"transcript": "NM_006415.4",
"protein_id": "NP_006406.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "ENST00000262554.7",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.561-556T>C",
"hgvs_p": null,
"transcript": "ENST00000262554.7",
"protein_id": "ENSP00000262554.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 473,
"cds_start": -4,
"cds_end": null,
"cds_length": 1422,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2783,
"mane_select": "NM_006415.4",
"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": 15,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.561-556T>C",
"hgvs_p": null,
"transcript": "NM_001281303.2",
"protein_id": "NP_001268232.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 513,
"cds_start": -4,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2751,
"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": 16,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.561-556T>C",
"hgvs_p": null,
"transcript": "ENST00000686600.1",
"protein_id": "ENSP00000509268.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 504,
"cds_start": -4,
"cds_end": null,
"cds_length": 1515,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2968,
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.621-556T>C",
"hgvs_p": null,
"transcript": "ENST00000687972.1",
"protein_id": "ENSP00000509208.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 493,
"cds_start": -4,
"cds_end": null,
"cds_length": 1482,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2807,
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.195-556T>C",
"hgvs_p": null,
"transcript": "NM_001368272.1",
"protein_id": "NP_001355201.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 351,
"cds_start": -4,
"cds_end": null,
"cds_length": 1056,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2916,
"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": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "c.96-556T>C",
"hgvs_p": null,
"transcript": "NM_001368273.1",
"protein_id": "NP_001355202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 318,
"cds_start": -4,
"cds_end": null,
"cds_length": 957,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.971-556T>C",
"hgvs_p": null,
"transcript": "ENST00000482632.6",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*537-556T>C",
"hgvs_p": null,
"transcript": "ENST00000642671.1",
"protein_id": "ENSP00000495764.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*364-556T>C",
"hgvs_p": null,
"transcript": "ENST00000643599.1",
"protein_id": "ENSP00000494770.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*302-556T>C",
"hgvs_p": null,
"transcript": "ENST00000644140.1",
"protein_id": "ENSP00000493933.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 3,
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.*364-556T>C",
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"transcript": "ENST00000646481.1",
"protein_id": "ENSP00000496627.1",
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"feature": null
},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 7,
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.*364-556T>C",
"hgvs_p": null,
"transcript": "ENST00000646534.1",
"protein_id": "ENSP00000495388.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.658-556T>C",
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"transcript": "ENST00000686799.1",
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},
{
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],
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"intron_rank": 6,
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.561-556T>C",
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"transcript": "ENST00000687427.1",
"protein_id": "ENSP00000509426.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 14,
"intron_rank": 7,
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.*364-556T>C",
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"transcript": "ENST00000687817.1",
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},
{
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],
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"gene_symbol": "SPTLC1",
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"transcript": "ENST00000689261.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*811-556T>C",
"hgvs_p": null,
"transcript": "ENST00000689401.1",
"protein_id": "ENSP00000510251.1",
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"mane_select": null,
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
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"hgvs_c": "n.*811-556T>C",
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"transcript": "ENST00000689423.1",
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},
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],
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"intron_rank": 7,
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},
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],
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"gene_symbol": "SPTLC1",
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"hgvs_c": "n.*262-556T>C",
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},
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
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"hgvs_c": "n.584-556T>C",
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"transcript": "ENST00000692458.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "SPTLC1",
"gene_hgnc_id": 11277,
"hgvs_c": "n.*577-556T>C",
"hgvs_p": null,
"transcript": "ENST00000693147.1",
"protein_id": "ENSP00000510358.1",
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},
{
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],
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{
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"BP4_Strong"
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"verdict": "Likely_benign",
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}
],
"clinvar_disease": "",
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"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}