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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: 9-128527321-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=128527321&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "GLE1",
"hgnc_id": 4315,
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001411013.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 300886,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "Lethal arthrogryposis-anterior horn cell disease syndrome,Lethal congenital contracture syndrome 1,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:5",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 698,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": null,
"cds_end": null,
"cds_length": 2097,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001003722.2",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000309971.9",
"protein_coding": true,
"protein_id": "NP_001003722.1",
"strand": true,
"transcript": "NM_001003722.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 698,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3302,
"cdna_start": null,
"cds_end": null,
"cds_length": 2097,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000309971.9",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001003722.2",
"protein_coding": true,
"protein_id": "ENSP00000308622.5",
"strand": true,
"transcript": "ENST00000309971.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 659,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": null,
"cds_end": null,
"cds_length": 1980,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000372770.4",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000361856.4",
"strand": true,
"transcript": "ENST00000372770.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 717,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3361,
"cdna_start": null,
"cds_end": null,
"cds_length": 2154,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898507.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568566.1",
"strand": true,
"transcript": "ENST00000898507.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 708,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": null,
"cds_end": null,
"cds_length": 2127,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898511.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568570.1",
"strand": true,
"transcript": "ENST00000898511.1",
"transcript_support_level": null
},
{
"aa_alt": null,
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"aa_length": 707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3329,
"cdna_start": null,
"cds_end": null,
"cds_length": 2124,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411013.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397942.1",
"strand": true,
"transcript": "NM_001411013.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 707,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3373,
"cdna_start": null,
"cds_end": null,
"cds_length": 2124,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683748.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
"intron_rank": 8,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507377.1",
"strand": true,
"transcript": "ENST00000683748.1",
"transcript_support_level": null
},
{
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"aa_length": 703,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3506,
"cdna_start": null,
"cds_end": null,
"cds_length": 2112,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000961293.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631352.1",
"strand": true,
"transcript": "ENST00000961293.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
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"feature": "ENST00000898506.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568565.1",
"strand": true,
"transcript": "ENST00000898506.1",
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},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"intron_variant"
],
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"exon_rank": null,
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"feature": "ENST00000961294.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1239+30G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000631353.1",
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"transcript": "ENST00000961294.1",
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},
{
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000937195.1",
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},
{
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],
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},
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"feature": "ENST00000898508.1",
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"protein_id": "ENSP00000568567.1",
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},
{
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"consequences": [
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],
"exon_count": 16,
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"feature": "ENST00000961296.1",
"gene_hgnc_id": 4315,
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"strand": true,
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},
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"feature": "ENST00000684314.1",
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"protein_coding": true,
"protein_id": "ENSP00000507700.1",
"strand": true,
"transcript": "ENST00000684314.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000898503.1",
"gene_hgnc_id": 4315,
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"hgvs_c": "c.1131+30G>T",
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"protein_coding": true,
"protein_id": "ENSP00000568562.1",
"strand": true,
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},
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],
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"feature": "NM_001499.2",
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"hgvs_c": "c.1242+30G>T",
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},
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},
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],
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"feature": "ENST00000961297.1",
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},
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"consequences": [
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],
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"feature": "ENST00000684646.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1242+30G>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000507723.1",
"strand": true,
"transcript": "ENST00000684646.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
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"feature": "ENST00000898505.1",
"gene_hgnc_id": 4315,
"gene_symbol": "GLE1",
"hgvs_c": "c.1020+30G>T",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000568564.1",
"strand": true,
"transcript": "ENST00000898505.1",
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},
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