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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: 11-116943263-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=116943263&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 116943263,
"ref": "A",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000445177.6",
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.454+10781T>C",
"hgvs_p": null,
"transcript": "NM_001366686.3",
"protein_id": "NP_001353615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1369,
"cds_start": -4,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": "ENST00000445177.6",
"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": 25,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.454+10781T>C",
"hgvs_p": null,
"transcript": "ENST00000445177.6",
"protein_id": "ENSP00000391295.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1369,
"cds_start": -4,
"cds_end": null,
"cds_length": 4110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6364,
"mane_select": "NM_001366686.3",
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.454+10781T>C",
"hgvs_p": null,
"transcript": "ENST00000446921.6",
"protein_id": "ENSP00000390442.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1261,
"cds_start": -4,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3858,
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.434+6870T>C",
"hgvs_p": null,
"transcript": "ENST00000415541.5",
"protein_id": "ENSP00000392761.1",
"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": 3816,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "n.344+10781T>C",
"hgvs_p": null,
"transcript": "ENST00000485363.1",
"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": 764,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.454+10781T>C",
"hgvs_p": null,
"transcript": "NM_025164.6",
"protein_id": "NP_079440.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": -4,
"cds_end": null,
"cds_length": 3966,
"cdna_start": null,
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"cdna_length": 6212,
"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.454+10781T>C",
"hgvs_p": null,
"transcript": "ENST00000375300.6",
"protein_id": "ENSP00000364449.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1321,
"cds_start": -4,
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"cds_length": 3966,
"cdna_start": null,
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"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": 24,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.454+10781T>C",
"hgvs_p": null,
"transcript": "NM_001281749.3",
"protein_id": "NP_001268678.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1261,
"cds_start": -4,
"cds_end": null,
"cds_length": 3786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6032,
"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": 25,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.-24+6870T>C",
"hgvs_p": null,
"transcript": "NM_001281748.3",
"protein_id": "NP_001268677.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1102,
"cds_start": -4,
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"cds_length": 3309,
"cdna_start": null,
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"cdna_length": 6156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 13,
"intron_rank": 2,
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"gene_symbol": "SIK3",
"gene_hgnc_id": 29165,
"hgvs_c": "c.160+10781T>C",
"hgvs_p": null,
"transcript": "ENST00000413553.1",
"protein_id": "ENSP00000414347.1",
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": 505,
"cds_start": -4,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
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"gene_symbol": "SIK3",
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"hgvs_c": "c.454+10781T>C",
"hgvs_p": null,
"transcript": "NM_001366687.1",
"protein_id": "NP_001353616.1",
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},
{
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],
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},
{
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],
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],
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"gene_symbol": "SIK3",
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],
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},
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],
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"transcript": "XM_005271484.4",
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],
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"hgvs_c": "c.454+10781T>C",
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"transcript": "XM_017017424.2",
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},
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],
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"gene_symbol": "SIK3",
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],
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"transcript": "XM_017017425.2",
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},
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],
"exon_rank": null,
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"gene_symbol": "SIK3",
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"hgvs_c": "c.-24+6451T>C",
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{
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"clinvar_disease": "",
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}
],
"message": null
}