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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: 12-95533159-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95533159&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 95533159,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032147.5",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "NM_032147.5",
"protein_id": "NP_115523.2",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "ENST00000258499.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032147.5"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000258499.8",
"protein_id": "ENSP00000258499.3",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1373,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "NM_032147.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258499.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000393091.6",
"protein_id": "ENSP00000376806.2",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1242,
"cdna_end": null,
"cdna_length": 3161,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393091.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000537435.2",
"protein_id": "ENSP00000442629.2",
"transcript_support_level": 1,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2499,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537435.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916592.1",
"protein_id": "ENSP00000586651.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 807,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 4291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916592.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916615.1",
"protein_id": "ENSP00000586674.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 807,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2424,
"cdna_start": 1212,
"cdna_end": null,
"cdna_length": 4125,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916615.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916591.1",
"protein_id": "ENSP00000586650.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 782,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1379,
"cdna_end": null,
"cdna_length": 4221,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916591.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916605.1",
"protein_id": "ENSP00000586664.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 782,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916605.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916595.1",
"protein_id": "ENSP00000586654.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 743,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1354,
"cdna_end": null,
"cdna_length": 4082,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916595.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916602.1",
"protein_id": "ENSP00000586661.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 743,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916602.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916616.1",
"protein_id": "ENSP00000586675.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 743,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1506,
"cdna_end": null,
"cdna_length": 4232,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916616.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916618.1",
"protein_id": "ENSP00000586677.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 743,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2232,
"cdna_start": 1471,
"cdna_end": null,
"cdna_length": 4195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916618.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916590.1",
"protein_id": "ENSP00000586649.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 738,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1410,
"cdna_end": null,
"cdna_length": 4123,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916590.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916606.1",
"protein_id": "ENSP00000586665.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 738,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1217,
"cdna_end": null,
"cdna_length": 3930,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916606.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "NM_001042403.3",
"protein_id": "NP_001035862.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1200,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042403.3"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "NM_001278393.2",
"protein_id": "NP_001265322.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1424,
"cdna_end": null,
"cdna_length": 4059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278393.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "NM_001347936.2",
"protein_id": "NP_001334865.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1254,
"cdna_end": null,
"cdna_length": 3889,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347936.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "NM_001347937.2",
"protein_id": "NP_001334866.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
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"cds_length": 2139,
"cdna_start": 1445,
"cdna_end": null,
"cdna_length": 4080,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001347937.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000876803.1",
"protein_id": "ENSP00000546862.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 3361,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876803.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916587.1",
"protein_id": "ENSP00000586646.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1414,
"cdna_end": null,
"cdna_length": 4049,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916587.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916588.1",
"protein_id": "ENSP00000586647.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
"cds_end": null,
"cds_length": 2139,
"cdna_start": 1501,
"cdna_end": null,
"cdna_length": 4136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916588.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP44",
"gene_hgnc_id": 20064,
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile",
"transcript": "ENST00000916589.1",
"protein_id": "ENSP00000586648.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 712,
"cds_start": 1098,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.189,
"revel_prediction": "Benign",
"alphamissense_score": 0.362,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.614,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_032147.5",
"gene_symbol": "USP44",
"hgnc_id": 20064,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1098G>C",
"hgvs_p": "p.Met366Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}