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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: 16-84744804-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=84744804&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "USP10",
"hgnc_id": 12608,
"hgvs_c": "c.335C>G",
"hgvs_p": "p.Ala112Gly",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001272075.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0765,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "16",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.054980963468551636,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 798,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 414,
"cds_end": null,
"cds_length": 2397,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_005153.3",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000219473.12",
"protein_coding": true,
"protein_id": "NP_005144.2",
"strand": true,
"transcript": "NM_005153.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 798,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 414,
"cds_end": null,
"cds_length": 2397,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000219473.12",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005153.3",
"protein_coding": true,
"protein_id": "ENSP00000219473.7",
"strand": true,
"transcript": "ENST00000219473.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000540269.6",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "n.*73C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445589.2",
"strand": true,
"transcript": "ENST00000540269.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 3070,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000540269.6",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "n.*73C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000445589.2",
"strand": true,
"transcript": "ENST00000540269.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 833,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 409,
"cds_end": null,
"cds_length": 2502,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933625.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603684.1",
"strand": true,
"transcript": "ENST00000933625.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 802,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3449,
"cdna_start": 535,
"cds_end": null,
"cds_length": 2409,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001272075.2",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.335C>G",
"hgvs_p": "p.Ala112Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001259004.1",
"strand": true,
"transcript": "NM_001272075.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 802,
"aa_ref": "A",
"aa_start": 112,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2717,
"cdna_start": 531,
"cds_end": null,
"cds_length": 2409,
"cds_start": 335,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000570191.5",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.335C>G",
"hgvs_p": "p.Ala112Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457411.1",
"strand": true,
"transcript": "ENST00000570191.5",
"transcript_support_level": 2
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 796,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3340,
"cdna_start": 432,
"cds_end": null,
"cds_length": 2391,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933618.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603677.1",
"strand": true,
"transcript": "ENST00000933618.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 795,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3321,
"cdna_start": 416,
"cds_end": null,
"cds_length": 2388,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933621.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603680.1",
"strand": true,
"transcript": "ENST00000933621.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 795,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3300,
"cdna_start": 402,
"cds_end": null,
"cds_length": 2388,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933626.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603685.1",
"strand": true,
"transcript": "ENST00000933626.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 778,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3264,
"cdna_start": 410,
"cds_end": null,
"cds_length": 2337,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933624.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603683.1",
"strand": true,
"transcript": "ENST00000933624.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 775,
"aa_ref": "A",
"aa_start": 85,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3287,
"cdna_start": 373,
"cds_end": null,
"cds_length": 2328,
"cds_start": 254,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000933617.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.254C>G",
"hgvs_p": "p.Ala85Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603676.1",
"strand": true,
"transcript": "ENST00000933617.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 754,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3197,
"cdna_start": 418,
"cds_end": null,
"cds_length": 2265,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000933622.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603681.1",
"strand": true,
"transcript": "ENST00000933622.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 712,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2734,
"cdna_start": 414,
"cds_end": null,
"cds_length": 2139,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853354.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523413.1",
"strand": true,
"transcript": "ENST00000853354.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 694,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 410,
"cds_end": null,
"cds_length": 2085,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853355.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523414.1",
"strand": true,
"transcript": "ENST00000853355.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 644,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2895,
"cdna_start": 443,
"cds_end": null,
"cds_length": 1935,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853352.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523411.1",
"strand": true,
"transcript": "ENST00000853352.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 459,
"aa_ref": "A",
"aa_start": 108,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 432,
"cds_end": null,
"cds_length": 1380,
"cds_start": 323,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853353.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.323C>G",
"hgvs_p": "p.Ala108Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523412.1",
"strand": true,
"transcript": "ENST00000853353.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 140,
"aa_ref": "A",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 569,
"cdna_start": 450,
"cds_end": null,
"cds_length": 424,
"cds_start": 305,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000562283.5",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ala102Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455712.1",
"strand": true,
"transcript": "ENST00000562283.5",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 781,
"aa_ref": "A",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3262,
"cdna_start": 414,
"cds_end": null,
"cds_length": 2346,
"cds_start": 338,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047434876.1",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.338C>G",
"hgvs_p": "p.Ala113Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047290832.1",
"strand": true,
"transcript": "XM_047434876.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 602,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3381,
"cdna_start": null,
"cds_end": null,
"cds_length": 1809,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_006721332.2",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.-266C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721395.1",
"strand": true,
"transcript": "XM_006721332.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 602,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3573,
"cdna_start": null,
"cds_end": null,
"cds_length": 1809,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 16,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_011523443.2",
"gene_hgnc_id": 12608,
"gene_symbol": "USP10",
"hgvs_c": "c.-266C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521745.1",
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