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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: 2-172597502-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=172597502&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 172597502,
"ref": "G",
"alt": "A",
"effect": "3_prime_UTR_variant",
"transcript": "ENST00000282077.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "NM_002610.5",
"protein_id": "NP_002601.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14072,
"mane_select": "ENST00000282077.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "ENST00000282077.8",
"protein_id": "ENSP00000282077.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14072,
"mane_select": "NM_002610.5",
"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": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*55-111G>A",
"hgvs_p": null,
"transcript": "ENST00000410055.5",
"protein_id": "ENSP00000386985.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 436,
"cds_start": -4,
"cds_end": null,
"cds_length": 1311,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "NM_001278549.2",
"protein_id": "NP_001265478.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 456,
"cds_start": -4,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "XM_011511343.3",
"protein_id": "XP_011509645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "XM_011511344.3",
"protein_id": "XP_011509646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 13961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "XM_011511347.3",
"protein_id": "XP_011509649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 380,
"cds_start": -4,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
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"cdna_length": 14206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "XM_011511345.4",
"protein_id": "XP_011509647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 14162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "XM_047444736.1",
"protein_id": "XP_047300692.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 360,
"cds_start": -4,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
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"cdna_length": 13890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
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"exon_count": 9,
"intron_rank": null,
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"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "c.*1533G>A",
"hgvs_p": null,
"transcript": "XM_047444739.1",
"protein_id": "XP_047300695.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 281,
"cds_start": -4,
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"cdna_start": null,
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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": 11,
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"gene_symbol": "PDK1",
"gene_hgnc_id": 8809,
"hgvs_c": "n.1427-111G>A",
"hgvs_p": null,
"transcript": "NR_103729.2",
"protein_id": null,
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"aa_start": null,
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},
{
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"consequences": [
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],
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"gene_symbol": "PDK1",
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},
{
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"consequences": [
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],
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"gene_symbol": "PDK1",
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"hgvs_c": "n.1486+1479G>A",
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},
{
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],
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"gene_symbol": "PDK1",
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},
{
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],
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},
{
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"consequences": [
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],
"exon_rank": null,
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"gene_symbol": "PDK1",
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},
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],
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},
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],
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"intron_rank": 12,
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"gene_symbol": "PDK1",
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},
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],
"exon_rank": null,
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"intron_rank": 12,
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"gene_symbol": "PDK1",
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"hgvs_c": "n.1486+1479G>A",
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],
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],
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},
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],
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank_end": null,
"gene_symbol": "PDK1",
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},
{
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],
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}