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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: 9-129852572-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=129852572&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP20",
"hgnc_id": 12619,
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_006676.8",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0984,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.48,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12100723385810852,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 187,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001110303.4",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372429.8",
"protein_coding": true,
"protein_id": "NP_001103773.2",
"strand": true,
"transcript": "NM_001110303.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 187,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000372429.8",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001110303.4",
"protein_coding": true,
"protein_id": "ENSP00000361506.3",
"strand": true,
"transcript": "ENST00000372429.8",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 187,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000315480.9",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313811.4",
"strand": true,
"transcript": "ENST00000315480.9",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4371,
"cdna_start": 265,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000358355.5",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351122.1",
"strand": true,
"transcript": "ENST00000358355.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4391,
"cdna_start": 285,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001008563.5",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008563.2",
"strand": true,
"transcript": "NM_001008563.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4470,
"cdna_start": 187,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006676.8",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006667.3",
"strand": true,
"transcript": "NM_006676.8",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 166,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000853423.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523482.1",
"strand": true,
"transcript": "ENST00000853423.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4395,
"cdna_start": 196,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853424.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523483.1",
"strand": true,
"transcript": "ENST00000853424.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4882,
"cdna_start": 766,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853427.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523486.1",
"strand": true,
"transcript": "ENST00000853427.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4380,
"cdna_start": 273,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000853428.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523487.1",
"strand": true,
"transcript": "ENST00000853428.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4694,
"cdna_start": 578,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922133.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592192.1",
"strand": true,
"transcript": "ENST00000922133.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4188,
"cdna_start": 81,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000922134.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592193.1",
"strand": true,
"transcript": "ENST00000922134.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4524,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000922136.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592195.1",
"strand": true,
"transcript": "ENST00000922136.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4377,
"cdna_start": 271,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949809.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619868.1",
"strand": true,
"transcript": "ENST00000949809.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4852,
"cdna_start": 556,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949811.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619870.1",
"strand": true,
"transcript": "ENST00000949811.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4528,
"cdna_start": 247,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949812.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619871.1",
"strand": true,
"transcript": "ENST00000949812.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4027,
"cdna_start": 170,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949813.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619872.1",
"strand": true,
"transcript": "ENST00000949813.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4558,
"cdna_start": 452,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000949814.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619873.1",
"strand": true,
"transcript": "ENST00000949814.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4539,
"cdna_start": 255,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949815.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619874.1",
"strand": true,
"transcript": "ENST00000949815.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 739,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949816.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619875.1",
"strand": true,
"transcript": "ENST00000949816.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 914,
"aa_ref": "D",
"aa_start": 6,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5029,
"cdna_start": 923,
"cds_end": null,
"cds_length": 2745,
"cds_start": 17,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000949817.1",
"gene_hgnc_id": 12619,
"gene_symbol": "USP20",
"hgvs_c": "c.17A>G",
"hgvs_p": "p.Asp6Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619876.1",
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