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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: 20-34369410-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34369410&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BA1"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "ITCH",
"hgnc_id": 13890,
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_001257137.3",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000289720",
"hgnc_id": null,
"hgvs_c": "n.-82G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000696979.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BA1",
"acmg_score": -10,
"allele_count_reference_population": 211281,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.3700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 862,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6743,
"cdna_start": null,
"cds_end": null,
"cds_length": 2589,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_031483.7",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374864.10",
"protein_coding": true,
"protein_id": "NP_113671.3",
"strand": true,
"transcript": "NM_031483.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 862,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6743,
"cdna_start": null,
"cds_end": null,
"cds_length": 2589,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000374864.10",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031483.7",
"protein_coding": true,
"protein_id": "ENSP00000363998.4",
"strand": true,
"transcript": "ENST00000374864.10",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 903,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6447,
"cdna_start": null,
"cds_end": null,
"cds_length": 2712,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000262650.11",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000262650.5",
"strand": true,
"transcript": "ENST00000262650.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696979.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289720",
"hgvs_c": "n.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513014.1",
"strand": true,
"transcript": "ENST00000696979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 3463,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696979.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289720",
"hgvs_c": "n.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000513014.1",
"strand": true,
"transcript": "ENST00000696979.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 909,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2987,
"cdna_start": null,
"cds_end": null,
"cds_length": 2730,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884259.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554318.1",
"strand": true,
"transcript": "ENST00000884259.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 903,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6866,
"cdna_start": null,
"cds_end": null,
"cds_length": 2712,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001257137.3",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001244066.1",
"strand": true,
"transcript": "NM_001257137.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 903,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6887,
"cdna_start": null,
"cds_end": null,
"cds_length": 2712,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001324197.2",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-103G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311126.1",
"strand": true,
"transcript": "NM_001324197.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 903,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3159,
"cdna_start": null,
"cds_end": null,
"cds_length": 2712,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000665346.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-103G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499786.1",
"strand": true,
"transcript": "ENST00000665346.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 900,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4484,
"cdna_start": null,
"cds_end": null,
"cds_length": 2703,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000670516.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499526.1",
"strand": true,
"transcript": "ENST00000670516.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 871,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3685,
"cdna_start": null,
"cds_end": null,
"cds_length": 2616,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884255.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554314.1",
"strand": true,
"transcript": "ENST00000884255.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 866,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3254,
"cdna_start": null,
"cds_end": null,
"cds_length": 2601,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000696975.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000513012.1",
"strand": true,
"transcript": "ENST00000696975.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 6764,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001324198.2",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-103G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001311127.1",
"strand": true,
"transcript": "NM_001324198.2",
"transcript_support_level": null
},
{
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"aa_length": 862,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6404,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000884253.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-103G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554312.1",
"strand": true,
"transcript": "ENST00000884253.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884254.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-103G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554313.1",
"strand": true,
"transcript": "ENST00000884254.1",
"transcript_support_level": null
},
{
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"aa_length": 862,
"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": null,
"cds_end": null,
"cds_length": 2589,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000884258.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554317.1",
"strand": true,
"transcript": "ENST00000884258.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5266,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000665484.2",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000499605.1",
"strand": true,
"transcript": "ENST00000665484.2",
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},
{
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000938729.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-82G>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000608788.1",
"strand": true,
"transcript": "ENST00000938729.1",
"transcript_support_level": null
},
{
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000660337.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-103G>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000499685.1",
"strand": true,
"transcript": "ENST00000660337.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": null,
"cds_end": null,
"cds_length": 2322,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000943493.1",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-103G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613552.1",
"strand": true,
"transcript": "ENST00000943493.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 752,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6601,
"cdna_start": null,
"cds_end": null,
"cds_length": 2259,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001257138.3",
"gene_hgnc_id": 13890,
"gene_symbol": "ITCH",
"hgvs_c": "c.-270G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
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