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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: 18-58936571-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=58936571&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 58936571,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000591808.6",
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "NM_001375912.1",
"protein_id": "NP_001362841.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6556,
"mane_select": "ENST00000591808.6",
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "ENST00000591808.6",
"protein_id": "ENSP00000468238.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6556,
"mane_select": "NM_001375912.1",
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "ENST00000336078.8",
"protein_id": "ENSP00000338217.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6696,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "ENST00000591083.5",
"protein_id": "ENSP00000468532.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5324,
"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": 11,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "ENST00000591230.5",
"protein_id": "ENSP00000465709.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4450,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "NM_001318726.2",
"protein_id": "NP_001305655.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
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"cdna_length": 6290,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "NM_001318727.2",
"protein_id": "NP_001305656.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
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"cdna_start": null,
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"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": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "NM_001318728.2",
"protein_id": "NP_001305657.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"cds_start": -4,
"cds_end": null,
"cds_length": 3906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6274,
"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": 10,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ZNF532",
"gene_hgnc_id": 30940,
"hgvs_c": "c.2528+1957G>A",
"hgvs_p": null,
"transcript": "NM_001353525.2",
"protein_id": "NP_001340454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1301,
"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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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "ZNF532",
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"hgvs_c": "c.2528+1957G>A",
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"transcript": "NM_001353526.2",
"protein_id": "NP_001340455.1",
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"aa_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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"gene_symbol": "ZNF532",
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"hgvs_c": "c.2528+1957G>A",
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"transcript": "NM_001353527.2",
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},
{
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],
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],
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"hgvs_c": "c.2528+1957G>A",
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},
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"gene_symbol": "ZNF532",
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],
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},
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],
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],
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"gene_symbol": "ZNF532",
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},
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],
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"gene_symbol": "ZNF532",
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