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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: 2-109548083-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=109548083&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 109548083,
"ref": "A",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000397712.7",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1162-1846T>G",
"hgvs_p": null,
"transcript": "NM_144710.5",
"protein_id": "NP_653311.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": "ENST00000397712.7",
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1162-1846T>G",
"hgvs_p": null,
"transcript": "ENST00000397712.7",
"protein_id": "ENSP00000380824.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 454,
"cds_start": -4,
"cds_end": null,
"cds_length": 1365,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3014,
"mane_select": "NM_144710.5",
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1162-1846T>G",
"hgvs_p": null,
"transcript": "NM_001321498.2",
"protein_id": "NP_001308427.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3097,
"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": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1162-1846T>G",
"hgvs_p": null,
"transcript": "ENST00000356688.8",
"protein_id": "ENSP00000349116.4",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 544,
"cds_start": -4,
"cds_end": null,
"cds_length": 1635,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3091,
"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": 13,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1117-1846T>G",
"hgvs_p": null,
"transcript": "ENST00000437928.5",
"protein_id": "ENSP00000407790.1",
"transcript_support_level": 5,
"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": 1782,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1162-1846T>G",
"hgvs_p": null,
"transcript": "NM_001321512.2",
"protein_id": "NP_001308441.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4739,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1162-1846T>G",
"hgvs_p": null,
"transcript": "ENST00000415095.5",
"protein_id": "ENSP00000396728.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 450,
"cds_start": -4,
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"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1605,
"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": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1135-1846T>G",
"hgvs_p": null,
"transcript": "NM_001321513.2",
"protein_id": "NP_001308442.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 441,
"cds_start": -4,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5126,
"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": 11,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1117-1846T>G",
"hgvs_p": null,
"transcript": "NM_001321514.2",
"protein_id": "NP_001308443.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 439,
"cds_start": -4,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
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"cdna_length": 3092,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1093-1846T>G",
"hgvs_p": null,
"transcript": "NM_178584.4",
"protein_id": "NP_848699.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": 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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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 10,
"intron_rank": 8,
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"gene_symbol": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.1093-1846T>G",
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"transcript": "ENST00000397714.6",
"protein_id": "ENSP00000380826.2",
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"cds_start": -4,
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},
{
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"consequences": [
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],
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"gene_symbol": "SEPTIN10",
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},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "SEPTIN10",
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"hgvs_c": "c.1066-1846T>G",
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"transcript": "NM_001321515.2",
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},
{
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"strand": false,
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],
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"gene_symbol": "SEPTIN10",
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"transcript": "NM_001321509.2",
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},
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],
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"gene_symbol": "SEPTIN10",
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"hgvs_c": "c.1036-1846T>G",
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},
{
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],
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"gene_symbol": "SEPTIN10",
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},
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],
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"gene_symbol": "SEPTIN10",
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},
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],
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"gene_symbol": "SEPTIN10",
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"hgvs_c": "c.763-1846T>G",
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"transcript": "NM_001321507.2",
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},
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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": "SEPTIN10",
"gene_hgnc_id": 14349,
"hgvs_c": "c.583-1846T>G",
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"protein_id": "NP_001308434.1",
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},
{
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"strand": false,
"consequences": [
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],
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"intron_rank": 5,
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"gene_symbol": "SEPTIN10",
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"transcript": "NM_001321511.2",
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