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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: 1-213244715-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=213244715&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 213244715,
"ref": "T",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000366960.8",
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2911+2057T>C",
"hgvs_p": null,
"transcript": "NM_012424.6",
"protein_id": "NP_036556.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": -4,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5505,
"mane_select": "ENST00000366960.8",
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2911+2057T>C",
"hgvs_p": null,
"transcript": "ENST00000366960.8",
"protein_id": "ENSP00000355927.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1066,
"cds_start": -4,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5505,
"mane_select": "NM_012424.6",
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2368+2057T>C",
"hgvs_p": null,
"transcript": "ENST00000543354.5",
"protein_id": "ENSP00000439282.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 885,
"cds_start": -4,
"cds_end": null,
"cds_length": 2658,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4082,
"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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2275+2057T>C",
"hgvs_p": null,
"transcript": "ENST00000614059.4",
"protein_id": "ENSP00000483873.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": -4,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4188,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.1516+2057T>C",
"hgvs_p": null,
"transcript": "ENST00000615329.4",
"protein_id": "ENSP00000484471.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 601,
"cds_start": -4,
"cds_end": null,
"cds_length": 1806,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4022,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "n.2725+2057T>C",
"hgvs_p": null,
"transcript": "ENST00000490299.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 5154,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2875+2057T>C",
"hgvs_p": null,
"transcript": "NM_001136138.4",
"protein_id": "NP_001129610.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": -4,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5469,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2875+2057T>C",
"hgvs_p": null,
"transcript": "ENST00000366959.4",
"protein_id": "ENSP00000355926.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1054,
"cds_start": -4,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5454,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2818+2057T>C",
"hgvs_p": null,
"transcript": "NM_001349646.2",
"protein_id": "NP_001336575.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1035,
"cds_start": -4,
"cds_end": null,
"cds_length": 3108,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5412,
"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": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2548+2057T>C",
"hgvs_p": null,
"transcript": "NM_001349647.2",
"protein_id": "NP_001336576.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 945,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 5142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2368+2057T>C",
"hgvs_p": null,
"transcript": "NM_001287221.3",
"protein_id": "NP_001274150.1",
"transcript_support_level": null,
"aa_start": null,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 16,
"intron_rank": 13,
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"gene_symbol": "RPS6KC1",
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"hgvs_c": "c.2368+2057T>C",
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"transcript": "NM_001349648.2",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 16,
"intron_rank": 13,
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"gene_symbol": "RPS6KC1",
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"hgvs_c": "c.2368+2057T>C",
"hgvs_p": null,
"transcript": "NM_001349649.2",
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},
{
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"protein_coding": true,
"strand": true,
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
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"hgvs_c": "c.2368+2057T>C",
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},
{
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],
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"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2368+2057T>C",
"hgvs_p": null,
"transcript": "NM_001349651.2",
"protein_id": "NP_001336580.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 14,
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"gene_symbol": "RPS6KC1",
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"hgvs_c": "c.2368+2057T>C",
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"transcript": "NM_001349652.2",
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},
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],
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"intron_rank": 13,
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"gene_symbol": "RPS6KC1",
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"hgvs_c": "c.2368+2057T>C",
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"transcript": "NM_001349653.2",
"protein_id": "NP_001336582.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2275+2057T>C",
"hgvs_p": null,
"transcript": "NM_001287218.3",
"protein_id": "NP_001274147.1",
"transcript_support_level": null,
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},
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],
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"gene_symbol": "RPS6KC1",
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"hgvs_c": "c.2275+2057T>C",
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],
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"hgvs_c": "c.2275+2057T>C",
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},
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],
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"gene_symbol": "RPS6KC1",
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2020+2057T>C",
"hgvs_p": null,
"transcript": "NM_001349657.2",
"protein_id": "NP_001336586.1",
"transcript_support_level": null,
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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": 15,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "RPS6KC1",
"gene_hgnc_id": 10439,
"hgvs_c": "c.2020+2057T>C",
"hgvs_p": null,
"transcript": "NM_001349658.2",
"protein_id": "NP_001336587.1",
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}