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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: X-18895136-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18895136&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 18895136,
"ref": "A",
"alt": "T",
"effect": "splice_donor_variant,intron_variant",
"transcript": "NM_001440805.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3336+2T>A",
"hgvs_p": null,
"transcript": "NM_000292.3",
"protein_id": "NP_000283.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379942.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000292.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3336+2T>A",
"hgvs_p": null,
"transcript": "ENST00000379942.5",
"protein_id": "ENSP00000369274.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1235,
"cds_start": null,
"cds_end": null,
"cds_length": 3708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000292.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379942.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3360+2T>A",
"hgvs_p": null,
"transcript": "NM_001440805.1",
"protein_id": "NP_001427734.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": null,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440805.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3360+2T>A",
"hgvs_p": null,
"transcript": "ENST00000897868.1",
"protein_id": "ENSP00000567927.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1243,
"cds_start": null,
"cds_end": null,
"cds_length": 3732,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897868.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3321+2T>A",
"hgvs_p": null,
"transcript": "ENST00000954730.1",
"protein_id": "ENSP00000624789.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1230,
"cds_start": null,
"cds_end": null,
"cds_length": 3693,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954730.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 31,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3336+2T>A",
"hgvs_p": null,
"transcript": "ENST00000897873.1",
"protein_id": "ENSP00000567932.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1226,
"cds_start": null,
"cds_end": null,
"cds_length": 3681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897873.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3282+2T>A",
"hgvs_p": null,
"transcript": "NM_001440800.1",
"protein_id": "NP_001427729.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": null,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440800.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3282+2T>A",
"hgvs_p": null,
"transcript": "ENST00000897869.1",
"protein_id": "ENSP00000567928.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1217,
"cds_start": null,
"cds_end": null,
"cds_length": 3654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897869.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3252+2T>A",
"hgvs_p": null,
"transcript": "NM_001440801.1",
"protein_id": "NP_001427730.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1207,
"cds_start": null,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440801.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3252+2T>A",
"hgvs_p": null,
"transcript": "ENST00000897867.1",
"protein_id": "ENSP00000567926.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1207,
"cds_start": null,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897867.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3246+2T>A",
"hgvs_p": null,
"transcript": "ENST00000954732.1",
"protein_id": "ENSP00000624791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1205,
"cds_start": null,
"cds_end": null,
"cds_length": 3618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954732.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3237+2T>A",
"hgvs_p": null,
"transcript": "NM_001440802.1",
"protein_id": "NP_001427731.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": null,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440802.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 30,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3237+2T>A",
"hgvs_p": null,
"transcript": "ENST00000897870.1",
"protein_id": "ENSP00000567929.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": null,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897870.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3237+2T>A",
"hgvs_p": null,
"transcript": "ENST00000934920.1",
"protein_id": "ENSP00000604979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1202,
"cds_start": null,
"cds_end": null,
"cds_length": 3609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934920.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3204+2T>A",
"hgvs_p": null,
"transcript": "ENST00000934921.1",
"protein_id": "ENSP00000604980.1",
"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": "ENST00000934921.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3201+2T>A",
"hgvs_p": null,
"transcript": "ENST00000954728.1",
"protein_id": "ENSP00000624787.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1190,
"cds_start": null,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3199-732T>A",
"hgvs_p": null,
"transcript": "ENST00000934923.1",
"protein_id": "ENSP00000604982.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1189,
"cds_start": null,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934923.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3183+2T>A",
"hgvs_p": null,
"transcript": "NM_001440803.1",
"protein_id": "NP_001427732.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": null,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440803.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 29,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3183+2T>A",
"hgvs_p": null,
"transcript": "ENST00000954729.1",
"protein_id": "ENSP00000624788.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1184,
"cds_start": null,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954729.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3153+2T>A",
"hgvs_p": null,
"transcript": "NM_001440804.1",
"protein_id": "NP_001427733.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1174,
"cds_start": null,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440804.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3153+2T>A",
"hgvs_p": null,
"transcript": "ENST00000897871.1",
"protein_id": "ENSP00000567930.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1174,
"cds_start": null,
"cds_end": null,
"cds_length": 3525,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897871.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_donor_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "PHKA2",
"gene_hgnc_id": 8926,
"hgvs_c": "c.3144+2T>A",
"hgvs_p": null,
"transcript": "ENST00000934922.1",
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"phenotype_combined": "Glycogen storage disease IXa1",
"pathogenicity_classification_combined": "Likely pathogenic",
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}
],
"message": null
}