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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: 2-98544045-G-GCACACA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=98544045&ref=G&alt=GCACACA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 98544045,
"ref": "G",
"alt": "GCACACA",
"effect": "intron_variant",
"transcript": "ENST00000409851.8",
"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": 25,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.949+52_949+57dupACACAC",
"hgvs_p": null,
"transcript": "NM_001134225.2",
"protein_id": "NP_001127697.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": -4,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10096,
"mane_select": "ENST00000409851.8",
"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": 25,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.949+38_949+39insCACACA",
"hgvs_p": null,
"transcript": "ENST00000409851.8",
"protein_id": "ENSP00000386777.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 972,
"cds_start": -4,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10096,
"mane_select": "NM_001134225.2",
"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": 26,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.949+38_949+39insCACACA",
"hgvs_p": null,
"transcript": "ENST00000523221.2",
"protein_id": "ENSP00000427722.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10111,
"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": 26,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.949+38_949+39insCACACA",
"hgvs_p": null,
"transcript": "ENST00000409540.7",
"protein_id": "ENSP00000387294.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 954,
"cds_start": -4,
"cds_end": null,
"cds_length": 2865,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3231,
"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": 26,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.949+38_949+39insCACACA",
"hgvs_p": null,
"transcript": "ENST00000409016.8",
"protein_id": "ENSP00000386704.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 938,
"cds_start": -4,
"cds_end": null,
"cds_length": 2817,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.231+10589_231+10590insCACACA",
"hgvs_p": null,
"transcript": "ENST00000409463.5",
"protein_id": "ENSP00000386329.1",
"transcript_support_level": 1,
"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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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 11,
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"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.949+38_949+39insCACACA",
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"transcript": "ENST00000715853.1",
"protein_id": "ENSP00000520525.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.949+52_949+57dupACACAC",
"hgvs_p": null,
"transcript": "NM_001134224.2",
"protein_id": "NP_001127696.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 977,
"cds_start": -4,
"cds_end": null,
"cds_length": 2934,
"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": [
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],
"exon_rank": null,
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"exon_count": 26,
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"gene_symbol": "INPP4A",
"gene_hgnc_id": 6074,
"hgvs_c": "c.949+38_949+39insCACACA",
"hgvs_p": null,
"transcript": "ENST00000706935.1",
"protein_id": "ENSP00000516656.1",
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},
{
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],
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},
{
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],
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],
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}
],
"message": null
}