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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-72611092-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72611092&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PHKA1",
"hgnc_id": 8925,
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"inheritance_mode": "XL,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001431068.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 5348,
"alphamissense_prediction": null,
"alphamissense_score": 0.0758,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Glycogen storage disease IXd,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:3",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.009200334548950195,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6286,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 3672,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_002637.4",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373542.9",
"protein_coding": true,
"protein_id": "NP_002628.2",
"strand": false,
"transcript": "NM_002637.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6286,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 3672,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000373542.9",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002637.4",
"protein_coding": true,
"protein_id": "ENSP00000362643.4",
"strand": false,
"transcript": "ENST00000373542.9",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6121,
"cdna_start": 2763,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000339490.7",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342469.3",
"strand": false,
"transcript": "ENST00000339490.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "R",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 2586,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2285,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000541944.5",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2285G>A",
"hgvs_p": "p.Arg762His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441251.1",
"strand": false,
"transcript": "ENST00000541944.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6337,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 3723,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001431068.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001417997.1",
"strand": false,
"transcript": "NM_001431068.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1240,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4476,
"cdna_start": 2840,
"cds_end": null,
"cds_length": 3723,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000373539.3",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362640.3",
"strand": false,
"transcript": "ENST00000373539.3",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6247,
"cdna_start": 2888,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001122670.2",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001116142.1",
"strand": false,
"transcript": "NM_001122670.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6138,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 3633,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001440787.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427716.1",
"strand": false,
"transcript": "NM_001440787.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1183,
"aa_ref": "R",
"aa_start": 794,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4954,
"cdna_start": 2762,
"cds_end": null,
"cds_length": 3552,
"cds_start": 2381,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000958860.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2381G>A",
"hgvs_p": "p.Arg794His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628919.1",
"strand": false,
"transcript": "ENST00000958860.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1181,
"aa_ref": "R",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6173,
"cdna_start": 2724,
"cds_end": null,
"cds_length": 3546,
"cds_start": 2285,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000373545.7",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2285G>A",
"hgvs_p": "p.Arg762His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362646.3",
"strand": false,
"transcript": "ENST00000373545.7",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6083,
"cdna_start": 2826,
"cds_end": null,
"cds_length": 3531,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000929439.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599498.1",
"strand": false,
"transcript": "ENST00000929439.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1164,
"aa_ref": "R",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4297,
"cdna_start": 2711,
"cds_end": null,
"cds_length": 3495,
"cds_start": 2285,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000898176.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2285G>A",
"hgvs_p": "p.Arg762His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568235.1",
"strand": false,
"transcript": "ENST00000898176.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1151,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6070,
"cdna_start": 2711,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2285,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001172436.2",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2285G>A",
"hgvs_p": "p.Arg762His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165907.1",
"strand": false,
"transcript": "NM_001172436.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "R",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5961,
"cdna_start": 2602,
"cds_end": null,
"cds_length": 3456,
"cds_start": 2285,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001440788.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2285G>A",
"hgvs_p": "p.Arg762His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427717.1",
"strand": false,
"transcript": "NM_001440788.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1143,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4207,
"cdna_start": 2866,
"cds_end": null,
"cds_length": 3432,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000898177.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2462G>A",
"hgvs_p": "p.Arg821His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568236.1",
"strand": false,
"transcript": "ENST00000898177.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 735,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 2583,
"cds_end": null,
"cds_length": 3414,
"cds_start": 2204,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000958862.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2204G>A",
"hgvs_p": "p.Arg735His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628921.1",
"strand": false,
"transcript": "ENST00000958862.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1128,
"aa_ref": "R",
"aa_start": 739,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4137,
"cdna_start": 2594,
"cds_end": null,
"cds_length": 3387,
"cds_start": 2216,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000929440.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2216G>A",
"hgvs_p": "p.Arg739His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599499.1",
"strand": false,
"transcript": "ENST00000929440.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5670,
"cdna_start": 2320,
"cds_end": null,
"cds_length": 3375,
"cds_start": 2204,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000958859.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2204G>A",
"hgvs_p": "p.Arg735His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628918.1",
"strand": false,
"transcript": "ENST00000958859.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1107,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4175,
"cdna_start": 2668,
"cds_end": null,
"cds_length": 3324,
"cds_start": 2285,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000958861.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2285G>A",
"hgvs_p": "p.Arg762His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628920.1",
"strand": false,
"transcript": "ENST00000958861.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1094,
"aa_ref": "R",
"aa_start": 762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5885,
"cdna_start": 2732,
"cds_end": null,
"cds_length": 3285,
"cds_start": 2285,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000958858.1",
"gene_hgnc_id": 8925,
"gene_symbol": "PHKA1",
"hgvs_c": "c.2285G>A",
"hgvs_p": "p.Arg762His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000628917.1",
"strand": false,
"transcript": "ENST00000958858.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1223,
"aa_ref": "R",
"aa_start": 821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6177,
"cdna_start": 2779,
"cds_end": null,
"cds_length": 3672,
"cds_start": 2462,
"consequences": [
"missense_variant"
],
"exon_count": 33,
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{
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]
}