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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: 1-77701437-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=77701437&ref=G&alt=A&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": "USP33",
"hgnc_id": 20059,
"hgvs_c": "c.2534C>T",
"hgvs_p": "p.Ala845Val",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015017.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.1302,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.11878582835197449,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 911,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4327,
"cdna_start": 2702,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_201624.3",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ala814Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000370794.7",
"protein_coding": true,
"protein_id": "NP_963918.1",
"strand": false,
"transcript": "NM_201624.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 911,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4327,
"cdna_start": 2702,
"cds_end": null,
"cds_length": 2736,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000370794.7",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ala814Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_201624.3",
"protein_coding": true,
"protein_id": "ENSP00000359830.3",
"strand": false,
"transcript": "ENST00000370794.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 942,
"aa_ref": "A",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4502,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000370793.5",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2534C>T",
"hgvs_p": "p.Ala845Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000359829.1",
"strand": false,
"transcript": "ENST00000370793.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 942,
"aa_ref": "A",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4506,
"cdna_start": 2881,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_015017.5",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2534C>T",
"hgvs_p": "p.Ala845Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055832.3",
"strand": false,
"transcript": "NM_015017.5",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 942,
"aa_ref": "A",
"aa_start": 845,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4155,
"cdna_start": 2534,
"cds_end": null,
"cds_length": 2829,
"cds_start": 2534,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000357428.5",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2534C>T",
"hgvs_p": "p.Ala845Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000350009.1",
"strand": false,
"transcript": "ENST00000357428.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 934,
"aa_ref": "A",
"aa_start": 837,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4482,
"cdna_start": 2857,
"cds_end": null,
"cds_length": 2805,
"cds_start": 2510,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001377430.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2510C>T",
"hgvs_p": "p.Ala837Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364359.1",
"strand": false,
"transcript": "NM_001377430.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 910,
"aa_ref": "A",
"aa_start": 813,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4341,
"cdna_start": 2716,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2438,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000920219.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2438C>T",
"hgvs_p": "p.Ala813Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590278.1",
"strand": false,
"transcript": "ENST00000920219.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 910,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4293,
"cdna_start": 2673,
"cds_end": null,
"cds_length": 2733,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000955732.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ala814Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625791.1",
"strand": false,
"transcript": "ENST00000955732.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 909,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4283,
"cdna_start": 2664,
"cds_end": null,
"cds_length": 2730,
"cds_start": 2441,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000853335.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2441C>T",
"hgvs_p": "p.Ala814Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523394.1",
"strand": false,
"transcript": "ENST00000853335.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 903,
"aa_ref": "A",
"aa_start": 806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4303,
"cdna_start": 2678,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001377431.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2417C>T",
"hgvs_p": "p.Ala806Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364360.1",
"strand": false,
"transcript": "NM_001377431.1",
"transcript_support_level": null
},
{
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"aa_length": 903,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4514,
"cdna_start": 2889,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2417,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000853331.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2417C>T",
"hgvs_p": "p.Ala806Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523390.1",
"strand": false,
"transcript": "ENST00000853331.1",
"transcript_support_level": null
},
{
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"aa_length": 903,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2696,
"cds_end": null,
"cds_length": 2712,
"cds_start": 2417,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000853332.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2417C>T",
"hgvs_p": "p.Ala806Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523391.1",
"strand": false,
"transcript": "ENST00000853332.1",
"transcript_support_level": null
},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000920221.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2417C>T",
"hgvs_p": "p.Ala806Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590280.1",
"strand": false,
"transcript": "ENST00000920221.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 901,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 2538,
"cds_end": null,
"cds_length": 2706,
"cds_start": 2417,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000920223.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2417C>T",
"hgvs_p": "p.Ala806Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590282.1",
"strand": false,
"transcript": "ENST00000920223.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 898,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 2686,
"cds_end": null,
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"cds_start": 2402,
"consequences": [
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],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000955725.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2402C>T",
"hgvs_p": "p.Ala801Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625784.1",
"strand": false,
"transcript": "ENST00000955725.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 897,
"aa_ref": "A",
"aa_start": 800,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4281,
"cdna_start": 2660,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2399,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000955726.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2399C>T",
"hgvs_p": "p.Ala800Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625785.1",
"strand": false,
"transcript": "ENST00000955726.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 860,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5436,
"cdna_start": 2549,
"cds_end": null,
"cds_length": 2583,
"cds_start": 2288,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000853330.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523389.1",
"strand": false,
"transcript": "ENST00000853330.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_start": 2687,
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"consequences": [
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],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000955734.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2288C>T",
"hgvs_p": "p.Ala763Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625793.1",
"strand": false,
"transcript": "ENST00000955734.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4288,
"cdna_start": 2663,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2264,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000920222.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2264C>T",
"hgvs_p": "p.Ala755Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590281.1",
"strand": false,
"transcript": "ENST00000920222.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4144,
"cdna_start": 2519,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2264,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000955730.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2264C>T",
"hgvs_p": "p.Ala755Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625789.1",
"strand": false,
"transcript": "ENST00000955730.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 848,
"aa_ref": "A",
"aa_start": 751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4116,
"cdna_start": 2491,
"cds_end": null,
"cds_length": 2547,
"cds_start": 2252,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000920220.1",
"gene_hgnc_id": 20059,
"gene_symbol": "USP33",
"hgvs_c": "c.2252C>T",
"hgvs_p": "p.Ala751Val",
"intron_rank": null,
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