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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: 6-4052318-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=4052318&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 4052318,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000337659.11",
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "c.2312+224G>A",
"hgvs_p": null,
"transcript": "NM_003913.5",
"protein_id": "NP_003904.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": -4,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": "ENST00000337659.11",
"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": 15,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "c.2312+224G>A",
"hgvs_p": null,
"transcript": "ENST00000337659.11",
"protein_id": "ENSP00000337194.6",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1007,
"cds_start": -4,
"cds_end": null,
"cds_length": 3024,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7517,
"mane_select": "NM_003913.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.2312+224G>A",
"hgvs_p": null,
"transcript": "ENST00000480058.5",
"protein_id": "ENSP00000433547.1",
"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": 6775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.1052+224G>A",
"hgvs_p": null,
"transcript": "ENST00000481109.5",
"protein_id": "ENSP00000433714.1",
"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": 2364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.823+224G>A",
"hgvs_p": null,
"transcript": "ENST00000463634.6",
"protein_id": null,
"transcript_support_level": 5,
"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": 2590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.113+224G>A",
"hgvs_p": null,
"transcript": "ENST00000466185.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 1297,
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "FAM217A",
"gene_hgnc_id": 21362,
"hgvs_c": "n.392-1767C>T",
"hgvs_p": null,
"transcript": "ENST00000469157.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.2438+224G>A",
"hgvs_p": null,
"transcript": "NR_146783.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3715,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.2438+224G>A",
"hgvs_p": null,
"transcript": "NR_146784.2",
"protein_id": null,
"transcript_support_level": null,
"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": 3582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.2438+224G>A",
"hgvs_p": null,
"transcript": "NR_146785.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3792,
"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": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "c.2312+224G>A",
"hgvs_p": null,
"transcript": "XM_011514970.4",
"protein_id": "XP_011513272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 829,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 10,
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"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.2438+224G>A",
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"transcript": "XR_007059353.1",
"protein_id": null,
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},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 18,
"intron_rank": 10,
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"gene_symbol": "PRP4K",
"gene_hgnc_id": 17346,
"hgvs_c": "n.2438+224G>A",
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"transcript": "XR_007059354.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "PRP4K",
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"hgvs_c": "n.2438+224G>A",
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"transcript": "XR_007059355.1",
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},
{
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],
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},
{
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"protein_coding": false,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 19,
"intron_rank": 10,
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"gene_symbol": "PRP4K",
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"hgvs_c": "n.2438+224G>A",
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},
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],
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},
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],
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"gene_symbol": "PRP4K",
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"hgvs_c": "n.2438+224G>A",
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},
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],
"exon_rank": null,
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"intron_rank": 10,
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"gene_symbol": "PRP4K",
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"hgvs_c": "n.2438+224G>A",
"hgvs_p": null,
"transcript": "XR_007059360.1",
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],
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],
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},
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],
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},
{
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"strand": true,
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"intron_variant"
],
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"intron_rank": 10,
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"gene_symbol": "PRP4K",
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"hgvs_c": "n.2438+224G>A",
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"transcript": "XR_007059364.1",
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 10,
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