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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: 22-50420384-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=50420384&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 50420384,
"ref": "G",
"alt": "C",
"effect": "intron_variant",
"transcript": "ENST00000612753.5",
"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": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.845+922G>C",
"hgvs_p": null,
"transcript": "NM_001242898.2",
"protein_id": "NP_001229827.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": -4,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": "ENST00000612753.5",
"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": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.845+922G>C",
"hgvs_p": null,
"transcript": "ENST00000612753.5",
"protein_id": "ENSP00000478417.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": -4,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4094,
"mane_select": "NM_001242898.2",
"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": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.845+922G>C",
"hgvs_p": null,
"transcript": "ENST00000216061.9",
"protein_id": "ENSP00000216061.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3415,
"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": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.848+922G>C",
"hgvs_p": null,
"transcript": "ENST00000395741.7",
"protein_id": "ENSP00000379090.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": -4,
"cds_end": null,
"cds_length": 2802,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3304,
"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": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.845+922G>C",
"hgvs_p": null,
"transcript": "ENST00000395744.7",
"protein_id": "ENSP00000379093.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 932,
"cds_start": -4,
"cds_end": null,
"cds_length": 2799,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3293,
"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": 10,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.845+922G>C",
"hgvs_p": null,
"transcript": "NM_001365836.1",
"protein_id": "NP_001352765.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4390,
"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": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.848+922G>C",
"hgvs_p": null,
"transcript": "NM_001351641.2",
"protein_id": "NP_001338570.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": -4,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4097,
"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": 24,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.845+922G>C",
"hgvs_p": null,
"transcript": "NM_001351642.2",
"protein_id": "NP_001338571.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 960,
"cds_start": -4,
"cds_end": null,
"cds_length": 2883,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4097,
"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": 25,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.845+922G>C",
"hgvs_p": null,
"transcript": "NM_001351643.2",
"protein_id": "NP_001338572.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 959,
"cds_start": -4,
"cds_end": null,
"cds_length": 2880,
"cdna_start": null,
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"cdna_length": 4220,
"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": 23,
"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.848+922G>C",
"hgvs_p": null,
"transcript": "NM_001242899.2",
"protein_id": "NP_001229828.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 933,
"cds_start": -4,
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"cds_length": 2802,
"cdna_start": null,
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"cdna_length": 4016,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": 8,
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"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.845+922G>C",
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"transcript": "NM_001351644.2",
"protein_id": "NP_001338573.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 24,
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"gene_symbol": "PPP6R2",
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"hgvs_c": "c.845+922G>C",
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"transcript": "NM_001351645.2",
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},
{
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"strand": true,
"consequences": [
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],
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"exon_count": 23,
"intron_rank": 8,
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"gene_symbol": "PPP6R2",
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"hgvs_c": "c.845+922G>C",
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"transcript": "NM_014678.5",
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},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "PPP6R2",
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"hgvs_c": "c.845+922G>C",
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"transcript": "NM_001351646.2",
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},
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],
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"gene_symbol": "PPP6R2",
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"hgvs_c": "c.845+922G>C",
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"transcript": "NM_001242900.2",
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},
{
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],
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"gene_symbol": "PPP6R2",
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"hgvs_c": "c.845+922G>C",
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},
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],
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"gene_symbol": "PPP6R2",
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"hgvs_c": "c.359+922G>C",
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"transcript": "NM_001351647.2",
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},
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],
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.359+922G>C",
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"transcript": "NM_001351648.2",
"protein_id": "NP_001338577.1",
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},
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],
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"gene_symbol": "PPP6R2",
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"hgvs_c": "c.20+922G>C",
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"transcript": "ENST00000401672.7",
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],
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},
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],
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},
{
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"strand": true,
"consequences": [
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],
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"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
"gene_hgnc_id": 19253,
"hgvs_c": "c.914+922G>C",
"hgvs_p": null,
"transcript": "XM_011530734.3",
"protein_id": "XP_011529036.1",
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"feature": null
},
{
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"consequences": [
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],
"exon_rank": null,
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"intron_rank": 8,
"intron_rank_end": null,
"gene_symbol": "PPP6R2",
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"hgvs_c": "c.914+922G>C",
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"transcript": "XM_047441638.1",
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