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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: 12-6860201-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=6860201&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 6860201,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001098536.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "NM_001098536.2",
"protein_id": "NP_001092006.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 858,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229268.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001098536.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000229268.13",
"protein_id": "ENSP00000229268.8",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 858,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001098536.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229268.13"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000389231.9",
"protein_id": "ENSP00000373883.5",
"transcript_support_level": 1,
"aa_start": 394,
"aa_end": null,
"aa_length": 835,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389231.9"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000864808.1",
"protein_id": "ENSP00000534867.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 923,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2772,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864808.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000864812.1",
"protein_id": "ENSP00000534871.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 900,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864812.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Pro398Leu",
"transcript": "ENST00000864801.1",
"protein_id": "ENSP00000534859.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 862,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864801.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000864803.1",
"protein_id": "ENSP00000534862.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 840,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2523,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864803.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1193C>T",
"hgvs_p": "p.Pro398Leu",
"transcript": "ENST00000864802.1",
"protein_id": "ENSP00000534860.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 839,
"cds_start": 1193,
"cds_end": null,
"cds_length": 2520,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864802.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "NM_003481.3",
"protein_id": "NP_003472.2",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 835,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003481.3"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Pro370Leu",
"transcript": "NM_001382591.1",
"protein_id": "NP_001369520.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 834,
"cds_start": 1109,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382591.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1178C>T",
"hgvs_p": "p.Pro393Leu",
"transcript": "ENST00000933307.1",
"protein_id": "ENSP00000603366.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 834,
"cds_start": 1178,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933307.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000864807.1",
"protein_id": "ENSP00000534866.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 830,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2493,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864807.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000864810.1",
"protein_id": "ENSP00000534869.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 817,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864810.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "NM_001382588.1",
"protein_id": "NP_001369517.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 816,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382588.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000864811.1",
"protein_id": "ENSP00000534870.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 816,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864811.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000864805.1",
"protein_id": "ENSP00000534864.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 815,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864805.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1109C>T",
"hgvs_p": "p.Pro370Leu",
"transcript": "ENST00000864806.1",
"protein_id": "ENSP00000534865.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 811,
"cds_start": 1109,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864806.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "NM_001382589.1",
"protein_id": "NP_001369518.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 793,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382589.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1055C>T",
"hgvs_p": "p.Pro352Leu",
"transcript": "ENST00000864809.1",
"protein_id": "ENSP00000534868.1",
"transcript_support_level": null,
"aa_start": 352,
"aa_end": null,
"aa_length": 793,
"cds_start": 1055,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000864809.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1043C>T",
"hgvs_p": "p.Pro348Leu",
"transcript": "NM_001382590.1",
"protein_id": "NP_001369519.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 789,
"cds_start": 1043,
"cds_end": null,
"cds_length": 2370,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382590.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000969609.1",
"protein_id": "ENSP00000639668.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 770,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969609.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "USP5",
"gene_hgnc_id": 12628,
"hgvs_c": "c.1181C>T",
"hgvs_p": "p.Pro394Leu",
"transcript": "ENST00000969610.1",
"protein_id": "ENSP00000639669.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 747,
"cds_start": 1181,
"cds_end": null,
"cds_length": 2244,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.060139209032058716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.023,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.761,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001098536.2",
"gene_symbol": "USP5",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}