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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-18929306-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=18929306&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 16,
"criteria": [
"PP3",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PHKA2",
"hgnc_id": 8926,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"inheritance_mode": "XL,AR",
"pathogenic_score": 1,
"score": -15,
"transcript": "NM_001440805.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP6_Very_Strong,BS1,BS2",
"acmg_score": -15,
"allele_count_reference_population": 1039,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.5972,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.02,
"chr": "X",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": "Glycogen storage disease IXa1,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": 0.015572816133499146,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 3708,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_000292.3",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379942.5",
"protein_coding": true,
"protein_id": "NP_000283.1",
"strand": false,
"transcript": "NM_000292.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1235,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5077,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 3708,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000379942.5",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000292.3",
"protein_coding": true,
"protein_id": "ENSP00000369274.4",
"strand": false,
"transcript": "ENST00000379942.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 3732,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440805.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427734.1",
"strand": false,
"transcript": "NM_001440805.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1243,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5529,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 3732,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000897868.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567927.1",
"strand": false,
"transcript": "ENST00000897868.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1230,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 1408,
"cds_end": null,
"cds_length": 3693,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954730.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624789.1",
"strand": false,
"transcript": "ENST00000954730.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1226,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 3681,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 33,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000897873.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567932.1",
"strand": false,
"transcript": "ENST00000897873.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5023,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 3654,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440800.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427729.1",
"strand": false,
"transcript": "NM_001440800.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1217,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5144,
"cdna_start": 1995,
"cds_end": null,
"cds_length": 3654,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000897869.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567928.1",
"strand": false,
"transcript": "ENST00000897869.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4993,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 3624,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001440801.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427730.1",
"strand": false,
"transcript": "NM_001440801.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1207,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5553,
"cdna_start": 1988,
"cds_end": null,
"cds_length": 3624,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000897867.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567926.1",
"strand": false,
"transcript": "ENST00000897867.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1205,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4311,
"cdna_start": 1428,
"cds_end": null,
"cds_length": 3618,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000954732.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624791.1",
"strand": false,
"transcript": "ENST00000954732.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "G",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4978,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 3609,
"cds_start": 1147,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001440802.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Gly383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427731.1",
"strand": false,
"transcript": "NM_001440802.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1202,
"aa_ref": "G",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5098,
"cdna_start": 1895,
"cds_end": null,
"cds_length": 3609,
"cds_start": 1147,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 32,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000897870.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Gly383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000567929.1",
"strand": false,
"transcript": "ENST00000897870.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1202,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 3609,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000934920.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604979.1",
"strand": false,
"transcript": "ENST00000934920.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1191,
"aa_ref": "G",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4534,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 3576,
"cds_start": 1198,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000934921.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1198G>A",
"hgvs_p": "p.Gly400Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604980.1",
"strand": false,
"transcript": "ENST00000934921.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1190,
"aa_ref": "G",
"aa_start": 389,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4563,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 3573,
"cds_start": 1165,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954728.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1165G>A",
"hgvs_p": "p.Gly389Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624787.1",
"strand": false,
"transcript": "ENST00000954728.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "G",
"aa_start": 416,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 3570,
"cds_start": 1246,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000934923.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Gly416Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604982.1",
"strand": false,
"transcript": "ENST00000934923.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "G",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4924,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1147,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001440803.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Gly383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427732.1",
"strand": false,
"transcript": "NM_001440803.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1184,
"aa_ref": "G",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4500,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 3555,
"cds_start": 1147,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 31,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000954729.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Gly383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624788.1",
"strand": false,
"transcript": "ENST00000954729.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1174,
"aa_ref": "G",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 3525,
"cds_start": 1147,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 30,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001440804.1",
"gene_hgnc_id": 8926,
"gene_symbol": "PHKA2",
"hgvs_c": "c.1147G>A",
"hgvs_p": "p.Gly383Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427733.1",
"strand": false,
"transcript": "NM_001440804.1",
"transcript_support_level": null
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