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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: Y-13287334-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=Y&pos=13287334&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "Y",
"pos": 13287334,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000545955.6",
"consequences": [
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.4010+10373C>A",
"hgvs_p": null,
"transcript": "NM_001258249.2",
"protein_id": "NP_001245178.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1444,
"cds_start": -4,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": "ENST00000545955.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.4010+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000545955.6",
"protein_id": "ENSP00000442047.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1444,
"cds_start": -4,
"cds_end": null,
"cds_length": 4335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6174,
"mane_select": "NM_001258249.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 27,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3944+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000382896.9",
"protein_id": "ENSP00000372352.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1422,
"cds_start": -4,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3875+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000617789.5",
"protein_id": "ENSP00000483735.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1399,
"cds_start": -4,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4200,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3845+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000540140.6",
"protein_id": "ENSP00000441943.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1389,
"cds_start": -4,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3779+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000612274.5",
"protein_id": "ENSP00000485013.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1367,
"cds_start": -4,
"cds_end": null,
"cds_length": 4104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3767+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000538878.6",
"protein_id": "ENSP00000445274.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1363,
"cds_start": -4,
"cds_end": null,
"cds_length": 4092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3719+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000331397.8",
"protein_id": "ENSP00000328939.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1347,
"cds_start": -4,
"cds_end": null,
"cds_length": 4044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3854+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000537580.6",
"protein_id": "ENSP00000439922.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1335,
"cds_start": -4,
"cds_end": null,
"cds_length": 4008,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3470+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000618474.5",
"protein_id": "ENSP00000484698.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1264,
"cds_start": -4,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3482+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000624098.3",
"protein_id": "ENSP00000485539.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1211,
"cds_start": -4,
"cds_end": null,
"cds_length": 3636,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6P1",
"gene_hgnc_id": 17460,
"hgvs_c": "n.697G>T",
"hgvs_p": null,
"transcript": "ENST00000400275.2",
"protein_id": null,
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 741,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PSMA6P1",
"gene_hgnc_id": 17460,
"hgvs_c": "n.13287334G>T",
"hgvs_p": null,
"transcript": null,
"protein_id": null,
"transcript_support_level": null,
"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": null,
"feature": null
},
{
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3854+10373C>A",
"hgvs_p": null,
"transcript": "NM_001400170.1",
"protein_id": "NP_001387099.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1530,
"cds_start": -4,
"cds_end": null,
"cds_length": 4593,
"cdna_start": null,
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"cdna_length": 5452,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3809+10373C>A",
"hgvs_p": null,
"transcript": "NM_001400171.1",
"protein_id": "NP_001387100.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1515,
"cds_start": -4,
"cds_end": null,
"cds_length": 4548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3767+10373C>A",
"hgvs_p": null,
"transcript": "NM_001419806.1",
"protein_id": "NP_001406735.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1501,
"cds_start": -4,
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"cds_length": 4506,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3719+10373C>A",
"hgvs_p": null,
"transcript": "NM_001400173.1",
"protein_id": "NP_001387102.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1485,
"cds_start": -4,
"cds_end": null,
"cds_length": 4458,
"cdna_start": null,
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"cdna_length": 5317,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3944+10373C>A",
"hgvs_p": null,
"transcript": "NM_001400175.1",
"protein_id": "NP_001387104.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1422,
"cds_start": -4,
"cds_end": null,
"cds_length": 4269,
"cdna_start": null,
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"cdna_length": 6038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3944+10373C>A",
"hgvs_p": null,
"transcript": "NM_001400177.1",
"protein_id": "NP_001387106.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3875+10373C>A",
"hgvs_p": null,
"transcript": "NM_001258258.1",
"protein_id": "NP_001245187.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1399,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3854+10373C>A",
"hgvs_p": null,
"transcript": "NM_001258252.1",
"protein_id": "NP_001245181.1",
"transcript_support_level": null,
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"aa_end": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3854+10373C>A",
"hgvs_p": null,
"transcript": "ENST00000682913.1",
"protein_id": "ENSP00000507736.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1392,
"cds_start": -4,
"cds_end": null,
"cds_length": 4179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "UTY",
"gene_hgnc_id": 12638,
"hgvs_c": "c.3845+10373C>A",
"hgvs_p": null,
"transcript": "NM_001258261.1",
"protein_id": "NP_001245190.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1389,
"cds_start": -4,
"cds_end": null,
"cds_length": 4170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
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},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
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"transcript": "XM_047442755.1",
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}
],
"gene_symbol": "UTY",
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"dbsnp": "rs15434",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.774,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
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"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000545955.6",
"gene_symbol": "UTY",
"hgnc_id": 12638,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.4010+10373C>A",
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},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000400275.2",
"gene_symbol": "PSMA6P1",
"hgnc_id": 17460,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.697G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}