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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: 20-25453185-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=25453185&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"3_prime_UTR_variant"
],
"gene_symbol": "NINL",
"hgnc_id": 29163,
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_025176.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.89,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8899999856948853,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": null,
"cds_end": null,
"cds_length": 4149,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_025176.6",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000278886.11",
"protein_coding": true,
"protein_id": "NP_079452.3",
"strand": false,
"transcript": "NM_025176.6",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4991,
"cdna_start": null,
"cds_end": null,
"cds_length": 4149,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000278886.11",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025176.6",
"protein_coding": true,
"protein_id": "ENSP00000278886.6",
"strand": false,
"transcript": "ENST00000278886.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1449,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5208,
"cdna_start": null,
"cds_end": null,
"cds_length": 4350,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000960977.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631036.1",
"strand": false,
"transcript": "ENST00000960977.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1387,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5026,
"cdna_start": null,
"cds_end": null,
"cds_length": 4164,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000889360.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559419.1",
"strand": false,
"transcript": "ENST00000889360.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1387,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5273,
"cdna_start": null,
"cds_end": null,
"cds_length": 4164,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000889365.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559424.1",
"strand": false,
"transcript": "ENST00000889365.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4857,
"cdna_start": null,
"cds_end": null,
"cds_length": 4149,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000889363.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559422.1",
"strand": false,
"transcript": "ENST00000889363.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5309,
"cdna_start": null,
"cds_end": null,
"cds_length": 4149,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000889364.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000559423.1",
"strand": false,
"transcript": "ENST00000889364.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5045,
"cdna_start": null,
"cds_end": null,
"cds_length": 4149,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000924903.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594962.1",
"strand": false,
"transcript": "ENST00000924903.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1382,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8668,
"cdna_start": null,
"cds_end": null,
"cds_length": 4149,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000924905.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594964.1",
"strand": false,
"transcript": "ENST00000924905.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 1343,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4838,
"cdna_start": null,
"cds_end": null,
"cds_length": 4032,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 24,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000960979.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631038.1",
"strand": false,
"transcript": "ENST00000960979.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 4008,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000960980.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631039.1",
"strand": false,
"transcript": "ENST00000960980.1",
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},
{
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"biotype": "protein_coding",
"canonical": false,
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"cdna_length": 4814,
"cdna_start": null,
"cds_end": null,
"cds_length": 3978,
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"consequences": [
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],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889361.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559420.1",
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"transcript": "ENST00000889361.1",
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},
{
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"consequences": [
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],
"exon_count": 23,
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"feature": "NM_001318226.2",
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"gene_symbol": "NINL",
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"protein_coding": true,
"protein_id": "NP_001305155.1",
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},
{
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"cdna_length": 3997,
"cdna_start": null,
"cds_end": null,
"cds_length": 3102,
"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889359.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559418.1",
"strand": false,
"transcript": "ENST00000889359.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 23,
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"feature": "ENST00000924904.1",
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"hgvs_c": "c.*266T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000594963.1",
"strand": false,
"transcript": "ENST00000924904.1",
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},
{
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"biotype": "protein_coding",
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"cds_length": 3048,
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"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000889362.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
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"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000559421.1",
"strand": false,
"transcript": "ENST00000889362.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 3320,
"cdna_start": null,
"cds_end": null,
"cds_length": 2478,
"cds_start": null,
"consequences": [
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],
"exon_count": 19,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000960978.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
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"protein_id": "ENSP00000631037.1",
"strand": false,
"transcript": "ENST00000960978.1",
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},
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"cdna_start": null,
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"consequences": [
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],
"exon_count": 15,
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"feature": "ENST00000336104.6",
"gene_hgnc_id": 29163,
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"protein_id": "ENSP00000338621.6",
"strand": false,
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"transcript_support_level": 3
},
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"consequences": [
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],
"exon_count": 25,
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"feature": "XM_011529186.3",
"gene_hgnc_id": 29163,
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"hgvs_c": "c.*266T>A",
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"strand": false,
"transcript": "XM_011529186.3",
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},
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"cds_end": null,
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"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_011529187.3",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011527489.1",
"strand": false,
"transcript": "XM_011529187.3",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
"cds_length": 4386,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "XM_047440019.1",
"gene_hgnc_id": 29163,
"gene_symbol": "NINL",
"hgvs_c": "c.*266T>A",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295975.1",
"strand": false,
"transcript": "XM_047440019.1",
"transcript_support_level": null
},
{
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