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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: 2-158532879-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=158532879&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 158532879,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_003628.6",
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_003628.6",
"protein_id": "NP_003619.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": null,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000389759.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003628.6"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000389759.8",
"protein_id": "ENSP00000374409.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": null,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003628.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389759.8"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000389757.7",
"protein_id": "ENSP00000374407.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389757.7"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "n.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000426248.7",
"protein_id": "ENSP00000396827.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000426248.7"
},
{
"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": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "n.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000452162.5",
"protein_id": "ENSP00000407218.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000452162.5"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_001377218.1",
"protein_id": "NP_001364147.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": null,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377218.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000866379.1",
"protein_id": "ENSP00000536438.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": null,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866379.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000866381.1",
"protein_id": "ENSP00000536440.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": null,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866381.1"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_001304969.3",
"protein_id": "NP_001291898.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001304969.3"
},
{
"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": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_001377219.1",
"protein_id": "NP_001364148.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
"cds_end": null,
"cds_length": 3576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377219.1"
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_001377220.1",
"protein_id": "NP_001364149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377220.1"
},
{
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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": 2,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_001377221.1",
"protein_id": "NP_001364150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1191,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377221.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000866378.1",
"protein_id": "ENSP00000536437.1",
"transcript_support_level": null,
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"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866378.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PKP4",
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"hgvs_c": "c.-5-301C>T",
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"transcript": "ENST00000930825.1",
"protein_id": "ENSP00000600884.1",
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"biotype": "protein_coding",
"feature": "ENST00000930825.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_001377222.1",
"protein_id": "NP_001364151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": null,
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"cds_length": 3573,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377222.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
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"transcript": "NM_001377223.1",
"protein_id": "NP_001364152.1",
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"biotype": "protein_coding",
"feature": "NM_001377223.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000866374.1",
"protein_id": "ENSP00000536433.1",
"transcript_support_level": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866374.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000866380.1",
"protein_id": "ENSP00000536439.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000866380.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
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"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_001377224.1",
"protein_id": "NP_001364153.1",
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
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"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000866375.1",
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"feature": "ENST00000866375.1"
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
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"intron_rank": 1,
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"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "ENST00000866377.1",
"protein_id": "ENSP00000536436.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1189,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866377.1"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PKP4",
"gene_hgnc_id": 9026,
"hgvs_c": "c.-5-301C>T",
"hgvs_p": null,
"transcript": "NM_001005476.4",
"protein_id": "NP_001005476.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1149,
"cds_start": null,
"cds_end": null,
"cds_length": 3450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005476.4"
},
{
"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": 21,
"intron_rank": 1,
"intron_rank_end": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
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}
],
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}