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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: 13-95859624-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=95859624&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 95859624,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_020121.4",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3792G>T",
"hgvs_p": "p.Trp1264Cys",
"transcript": "NM_020121.4",
"protein_id": "NP_064506.3",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3792,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376747.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020121.4"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3792G>T",
"hgvs_p": "p.Trp1264Cys",
"transcript": "ENST00000376747.8",
"protein_id": "ENSP00000365938.3",
"transcript_support_level": 1,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1516,
"cds_start": 3792,
"cds_end": null,
"cds_length": 4551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020121.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376747.8"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3873G>T",
"hgvs_p": "p.Trp1291Cys",
"transcript": "ENST00000943424.1",
"protein_id": "ENSP00000613483.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1543,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943424.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3825G>T",
"hgvs_p": "p.Trp1275Cys",
"transcript": "ENST00000943423.1",
"protein_id": "ENSP00000613482.1",
"transcript_support_level": null,
"aa_start": 1275,
"aa_end": null,
"aa_length": 1527,
"cds_start": 3825,
"cds_end": null,
"cds_length": 4584,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943423.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3786G>T",
"hgvs_p": "p.Trp1262Cys",
"transcript": "ENST00000943428.1",
"protein_id": "ENSP00000613487.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3786,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943428.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3786G>T",
"hgvs_p": "p.Trp1262Cys",
"transcript": "ENST00000943429.1",
"protein_id": "ENSP00000613488.1",
"transcript_support_level": null,
"aa_start": 1262,
"aa_end": null,
"aa_length": 1514,
"cds_start": 3786,
"cds_end": null,
"cds_length": 4545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943429.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3777G>T",
"hgvs_p": "p.Trp1259Cys",
"transcript": "ENST00000940279.1",
"protein_id": "ENSP00000610338.1",
"transcript_support_level": null,
"aa_start": 1259,
"aa_end": null,
"aa_length": 1511,
"cds_start": 3777,
"cds_end": null,
"cds_length": 4536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940279.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3696G>T",
"hgvs_p": "p.Trp1232Cys",
"transcript": "ENST00000940277.1",
"protein_id": "ENSP00000610336.1",
"transcript_support_level": null,
"aa_start": 1232,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3696,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940277.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3660G>T",
"hgvs_p": "p.Trp1220Cys",
"transcript": "ENST00000940280.1",
"protein_id": "ENSP00000610339.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3660,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940280.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3360G>T",
"hgvs_p": "p.Trp1120Cys",
"transcript": "ENST00000940278.1",
"protein_id": "ENSP00000610337.1",
"transcript_support_level": null,
"aa_start": 1120,
"aa_end": null,
"aa_length": 1372,
"cds_start": 3360,
"cds_end": null,
"cds_length": 4119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000940278.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3228G>T",
"hgvs_p": "p.Trp1076Cys",
"transcript": "ENST00000943425.1",
"protein_id": "ENSP00000613484.1",
"transcript_support_level": null,
"aa_start": 1076,
"aa_end": null,
"aa_length": 1328,
"cds_start": 3228,
"cds_end": null,
"cds_length": 3987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943425.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3117G>T",
"hgvs_p": "p.Trp1039Cys",
"transcript": "ENST00000943426.1",
"protein_id": "ENSP00000613485.1",
"transcript_support_level": null,
"aa_start": 1039,
"aa_end": null,
"aa_length": 1291,
"cds_start": 3117,
"cds_end": null,
"cds_length": 3876,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943426.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3114G>T",
"hgvs_p": "p.Trp1038Cys",
"transcript": "ENST00000943427.1",
"protein_id": "ENSP00000613486.1",
"transcript_support_level": null,
"aa_start": 1038,
"aa_end": null,
"aa_length": 1290,
"cds_start": 3114,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943427.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3873G>T",
"hgvs_p": "p.Trp1291Cys",
"transcript": "XM_011521094.2",
"protein_id": "XP_011519396.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1590,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521094.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3792G>T",
"hgvs_p": "p.Trp1264Cys",
"transcript": "XM_011521095.2",
"protein_id": "XP_011519397.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1563,
"cds_start": 3792,
"cds_end": null,
"cds_length": 4692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521095.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3741G>T",
"hgvs_p": "p.Trp1247Cys",
"transcript": "XM_011521096.2",
"protein_id": "XP_011519398.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1546,
"cds_start": 3741,
"cds_end": null,
"cds_length": 4641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521096.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3873G>T",
"hgvs_p": "p.Trp1291Cys",
"transcript": "XM_011521097.2",
"protein_id": "XP_011519399.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1543,
"cds_start": 3873,
"cds_end": null,
"cds_length": 4632,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011521097.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3660G>T",
"hgvs_p": "p.Trp1220Cys",
"transcript": "XM_017020662.2",
"protein_id": "XP_016876151.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1519,
"cds_start": 3660,
"cds_end": null,
"cds_length": 4560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017020662.2"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.3660G>T",
"hgvs_p": "p.Trp1220Cys",
"transcript": "XM_047430471.1",
"protein_id": "XP_047286427.1",
"transcript_support_level": null,
"aa_start": 1220,
"aa_end": null,
"aa_length": 1472,
"cds_start": 3660,
"cds_end": null,
"cds_length": 4419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430471.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2973G>T",
"hgvs_p": "p.Trp991Cys",
"transcript": "XM_047430472.1",
"protein_id": "XP_047286428.1",
"transcript_support_level": null,
"aa_start": 991,
"aa_end": null,
"aa_length": 1290,
"cds_start": 2973,
"cds_end": null,
"cds_length": 3873,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430472.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2913G>T",
"hgvs_p": "p.Trp971Cys",
"transcript": "XM_047430473.1",
"protein_id": "XP_047286429.1",
"transcript_support_level": null,
"aa_start": 971,
"aa_end": null,
"aa_length": 1270,
"cds_start": 2913,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430473.1"
},
{
"aa_ref": "W",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UGGT2",
"gene_hgnc_id": 15664,
"hgvs_c": "c.2811G>T",
"hgvs_p": "p.Trp937Cys",
"transcript": "XM_011521099.3",
"protein_id": "XP_011519401.1",
"transcript_support_level": null,
"aa_start": 937,
"aa_end": null,
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{
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{
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],
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"biotype": "pseudogene",
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],
"gene_symbol": "UGGT2",
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"dbsnp": "rs755219228",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9389826059341431,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.644,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9485,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.688,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.03,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_020121.4",
"gene_symbol": "UGGT2",
"hgnc_id": 15664,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3792G>T",
"hgvs_p": "p.Trp1264Cys"
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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
}