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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-72581005-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72581005&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72581005,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001431068.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3669A>G",
"hgvs_p": "p.Gln1223Gln",
"transcript": "NM_002637.4",
"protein_id": "NP_002628.2",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3669,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 6286,
"mane_select": "ENST00000373542.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002637.4"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3669A>G",
"hgvs_p": "p.Gln1223Gln",
"transcript": "ENST00000373542.9",
"protein_id": "ENSP00000362643.4",
"transcript_support_level": 1,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3669,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 4095,
"cdna_end": null,
"cdna_length": 6286,
"mane_select": "NM_002637.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373542.9"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3630A>G",
"hgvs_p": "p.Gln1210Gln",
"transcript": "ENST00000339490.7",
"protein_id": "ENSP00000342469.3",
"transcript_support_level": 1,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3931,
"cdna_end": null,
"cdna_length": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000339490.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3453A>G",
"hgvs_p": "p.Gln1151Gln",
"transcript": "ENST00000541944.5",
"protein_id": "ENSP00000441251.1",
"transcript_support_level": 1,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3453,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3754,
"cdna_end": null,
"cdna_length": 5944,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000541944.5"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3720A>G",
"hgvs_p": "p.Gln1240Gln",
"transcript": "NM_001431068.1",
"protein_id": "NP_001417997.1",
"transcript_support_level": null,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3720,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 4146,
"cdna_end": null,
"cdna_length": 6337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001431068.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3720A>G",
"hgvs_p": "p.Gln1240Gln",
"transcript": "ENST00000373539.3",
"protein_id": "ENSP00000362640.3",
"transcript_support_level": 5,
"aa_start": 1240,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3720,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 4098,
"cdna_end": null,
"cdna_length": 4476,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373539.3"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3630A>G",
"hgvs_p": "p.Gln1210Gln",
"transcript": "NM_001122670.2",
"protein_id": "NP_001116142.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 4056,
"cdna_end": null,
"cdna_length": 6247,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001122670.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3630A>G",
"hgvs_p": "p.Gln1210Gln",
"transcript": "NM_001440787.1",
"protein_id": "NP_001427716.1",
"transcript_support_level": null,
"aa_start": 1210,
"aa_end": null,
"aa_length": 1210,
"cds_start": 3630,
"cds_end": null,
"cds_length": 3633,
"cdna_start": 3947,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440787.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3549A>G",
"hgvs_p": "p.Gln1183Gln",
"transcript": "ENST00000958860.1",
"protein_id": "ENSP00000628919.1",
"transcript_support_level": null,
"aa_start": 1183,
"aa_end": null,
"aa_length": 1183,
"cds_start": 3549,
"cds_end": null,
"cds_length": 3552,
"cdna_start": 3930,
"cdna_end": null,
"cdna_length": 4954,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958860.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3543A>G",
"hgvs_p": "p.Gln1181Gln",
"transcript": "ENST00000373545.7",
"protein_id": "ENSP00000362646.3",
"transcript_support_level": 5,
"aa_start": 1181,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3543,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3982,
"cdna_end": null,
"cdna_length": 6173,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373545.7"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3528A>G",
"hgvs_p": "p.Gln1176Gln",
"transcript": "ENST00000929439.1",
"protein_id": "ENSP00000599498.1",
"transcript_support_level": null,
"aa_start": 1176,
"aa_end": null,
"aa_length": 1176,
"cds_start": 3528,
"cds_end": null,
"cds_length": 3531,
"cdna_start": 3892,
"cdna_end": null,
"cdna_length": 6083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929439.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3492A>G",
"hgvs_p": "p.Gln1164Gln",
"transcript": "ENST00000898176.1",
"protein_id": "ENSP00000568235.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3492,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3918,
"cdna_end": null,
"cdna_length": 4297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898176.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3453A>G",
"hgvs_p": "p.Gln1151Gln",
"transcript": "NM_001172436.2",
"protein_id": "NP_001165907.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3453,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3879,
"cdna_end": null,
"cdna_length": 6070,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001172436.2"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3453A>G",
"hgvs_p": "p.Gln1151Gln",
"transcript": "NM_001440788.1",
"protein_id": "NP_001427717.1",
"transcript_support_level": null,
"aa_start": 1151,
"aa_end": null,
"aa_length": 1151,
"cds_start": 3453,
"cds_end": null,
"cds_length": 3456,
"cdna_start": 3770,
"cdna_end": null,
"cdna_length": 5961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440788.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3429A>G",
"hgvs_p": "p.Gln1143Gln",
"transcript": "ENST00000898177.1",
"protein_id": "ENSP00000568236.1",
"transcript_support_level": null,
"aa_start": 1143,
"aa_end": null,
"aa_length": 1143,
"cds_start": 3429,
"cds_end": null,
"cds_length": 3432,
"cdna_start": 3833,
"cdna_end": null,
"cdna_length": 4207,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898177.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3411A>G",
"hgvs_p": "p.Gln1137Gln",
"transcript": "ENST00000958862.1",
"protein_id": "ENSP00000628921.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1137,
"cds_start": 3411,
"cds_end": null,
"cds_length": 3414,
"cdna_start": 3790,
"cdna_end": null,
"cdna_length": 4163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958862.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3384A>G",
"hgvs_p": "p.Gln1128Gln",
"transcript": "ENST00000929440.1",
"protein_id": "ENSP00000599499.1",
"transcript_support_level": null,
"aa_start": 1128,
"aa_end": null,
"aa_length": 1128,
"cds_start": 3384,
"cds_end": null,
"cds_length": 3387,
"cdna_start": 3762,
"cdna_end": null,
"cdna_length": 4137,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929440.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3372A>G",
"hgvs_p": "p.Gln1124Gln",
"transcript": "ENST00000958859.1",
"protein_id": "ENSP00000628918.1",
"transcript_support_level": null,
"aa_start": 1124,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3372,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 3488,
"cdna_end": null,
"cdna_length": 5670,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958859.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3321A>G",
"hgvs_p": "p.Gln1107Gln",
"transcript": "ENST00000958861.1",
"protein_id": "ENSP00000628920.1",
"transcript_support_level": null,
"aa_start": 1107,
"aa_end": null,
"aa_length": 1107,
"cds_start": 3321,
"cds_end": null,
"cds_length": 3324,
"cdna_start": 3704,
"cdna_end": null,
"cdna_length": 4175,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958861.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3282A>G",
"hgvs_p": "p.Gln1094Gln",
"transcript": "ENST00000958858.1",
"protein_id": "ENSP00000628917.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1094,
"cds_start": 3282,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 3729,
"cdna_end": null,
"cdna_length": 5885,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000958858.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3669A>G",
"hgvs_p": "p.Gln1223Gln",
"transcript": "XM_047442160.1",
"protein_id": "XP_047298116.1",
"transcript_support_level": null,
"aa_start": 1223,
"aa_end": null,
"aa_length": 1223,
"cds_start": 3669,
"cds_end": null,
"cds_length": 3672,
"cdna_start": 3986,
"cdna_end": null,
"cdna_length": 6177,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442160.1"
},
{
"aa_ref": "Q",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"hgvs_c": "c.3492A>G",
"hgvs_p": "p.Gln1164Gln",
"transcript": "XM_006724661.3",
"protein_id": "XP_006724724.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1164,
"cds_start": 3492,
"cds_end": null,
"cds_length": 3495,
"cdna_start": 3918,
"cdna_end": null,
"cdna_length": 6109,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006724661.3"
}
],
"gene_symbol": "PHKA1",
"gene_hgnc_id": 8925,
"dbsnp": "rs782257959",
"frequency_reference_population": 0.000008205525,
"hom_count_reference_population": 3,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.00000820552,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.628,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001431068.1",
"gene_symbol": "PHKA1",
"hgnc_id": 8925,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "XL,AR",
"hgvs_c": "c.3720A>G",
"hgvs_p": "p.Gln1240Gln"
}
],
"clinvar_disease": "Glycogen storage disease IXd",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "Glycogen storage disease IXd",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}