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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: X-21598242-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=21598242&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 21598242,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000379510.5",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1976+2847G>C",
"hgvs_p": null,
"transcript": "NM_014927.5",
"protein_id": "NP_055742.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1034,
"cds_start": -4,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5753,
"mane_select": "ENST00000379510.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1976+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000379510.5",
"protein_id": "ENSP00000368824.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1034,
"cds_start": -4,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5753,
"mane_select": "NM_014927.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1886+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000425654.7",
"protein_id": "ENSP00000397906.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1886+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000279451.9",
"protein_id": "ENSP00000279451.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 868,
"cds_start": -4,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4244,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1901+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000644295.1",
"protein_id": "ENSP00000495501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1009,
"cds_start": -4,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5044,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1886+2847G>C",
"hgvs_p": null,
"transcript": "NM_001168647.3",
"protein_id": "NP_001162118.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1004,
"cds_start": -4,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1829+2847G>C",
"hgvs_p": null,
"transcript": "NM_001330770.2",
"protein_id": "NP_001317699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": -4,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1829+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000644585.1",
"protein_id": "ENSP00000495954.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 985,
"cds_start": -4,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1739+2847G>C",
"hgvs_p": null,
"transcript": "NM_001330772.2",
"protein_id": "NP_001317701.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1739+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000645245.1",
"protein_id": "ENSP00000495695.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 955,
"cds_start": -4,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5040,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1976+2847G>C",
"hgvs_p": null,
"transcript": "NM_001168648.3",
"protein_id": "NP_001162119.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 898,
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 21,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1976+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000642359.1",
"protein_id": "ENSP00000496709.1",
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"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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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1886+2847G>C",
"hgvs_p": null,
"transcript": "NM_001330773.2",
"protein_id": "NP_001317702.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 20,
"intron_rank": 16,
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"gene_symbol": "CNKSR2",
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"hgvs_c": "c.1829+2847G>C",
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"transcript": "NM_001168649.3",
"protein_id": "NP_001162120.1",
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},
{
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],
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"intron_rank": 16,
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"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1829+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000543067.6",
"protein_id": "ENSP00000444633.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1739+2847G>C",
"hgvs_p": null,
"transcript": "NM_001330771.2",
"protein_id": "NP_001317700.1",
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},
{
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],
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"intron_rank": 15,
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"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1739+2847G>C",
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"transcript": "ENST00000645791.1",
"protein_id": "ENSP00000494906.1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1727+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000643220.1",
"protein_id": "ENSP00000495012.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.1325+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000645074.1",
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},
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"strand": true,
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],
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"intron_rank": 9,
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"gene_symbol": "CNKSR2",
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},
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],
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"gene_symbol": "CNKSR2",
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"hgvs_c": "c.1055+2847G>C",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "n.1754+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000642853.1",
"protein_id": null,
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"aa_start": null,
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"aa_length": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "n.*48+2847G>C",
"hgvs_p": null,
"transcript": "ENST00000643156.1",
"protein_id": "ENSP00000494962.1",
"transcript_support_level": null,
"aa_start": null,
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}