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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: 2-30152320-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=30152320&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "YPEL5",
"hgnc_id": 18329,
"hgvs_c": "c.-24-4308C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_016061.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_016061.3",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-24-4308C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000261353.9",
"protein_coding": true,
"protein_id": "NP_057145.1",
"strand": true,
"transcript": "NM_016061.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000261353.9",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-24-4308C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016061.3",
"protein_coding": true,
"protein_id": "ENSP00000261353.4",
"strand": true,
"transcript": "ENST00000261353.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1735,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402708.5",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-85-3530C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385278.1",
"strand": true,
"transcript": "ENST00000402708.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127399.2",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-25+4015C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120871.1",
"strand": true,
"transcript": "NM_001127399.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2433,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127400.2",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-25+3779C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120872.1",
"strand": true,
"transcript": "NM_001127400.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2494,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001127401.2",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-85-3530C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120873.1",
"strand": true,
"transcript": "NM_001127401.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2499,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379519.7",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-25+3779C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368834.3",
"strand": true,
"transcript": "ENST00000379519.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000379520.8",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-85-3530C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000368835.3",
"strand": true,
"transcript": "ENST00000379520.8",
"transcript_support_level": 2
},
{
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"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000402003.7",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-25+4015C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000383974.3",
"strand": true,
"transcript": "ENST00000402003.7",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2438,
"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871629.1",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-85-3530C>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541688.1",
"strand": true,
"transcript": "ENST00000871629.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2222,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871630.1",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-16-4316C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541689.1",
"strand": true,
"transcript": "ENST00000871630.1",
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},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2428,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000871631.1",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541690.1",
"strand": true,
"transcript": "ENST00000871631.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000871632.1",
"gene_hgnc_id": 18329,
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"protein_coding": true,
"protein_id": "ENSP00000541691.1",
"strand": true,
"transcript": "ENST00000871632.1",
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},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 3,
"exon_rank": null,
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"feature": "ENST00000871633.1",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-24-4308C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541692.1",
"strand": true,
"transcript": "ENST00000871633.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 5,
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"feature": "ENST00000871634.1",
"gene_hgnc_id": 18329,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541693.1",
"strand": true,
"transcript": "ENST00000871634.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871635.1",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-25+3779C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541694.1",
"strand": true,
"transcript": "ENST00000871635.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871636.1",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-85-3530C>A",
"hgvs_p": null,
"intron_rank": 1,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000541695.1",
"strand": true,
"transcript": "ENST00000871636.1",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 3,
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"feature": "ENST00000871637.1",
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"gene_symbol": "YPEL5",
"hgvs_c": "c.-24-4308C>A",
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"protein_id": "ENSP00000541696.1",
"strand": true,
"transcript": "ENST00000871637.1",
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},
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"consequences": [
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],
"exon_count": 4,
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"feature": "ENST00000871638.1",
"gene_hgnc_id": 18329,
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"protein_coding": true,
"protein_id": "ENSP00000541697.1",
"strand": true,
"transcript": "ENST00000871638.1",
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},
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"consequences": [
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],
"exon_count": 4,
"exon_rank": null,
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"feature": "ENST00000871639.1",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-25+3779C>A",
"hgvs_p": null,
"intron_rank": 2,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541698.1",
"strand": true,
"transcript": "ENST00000871639.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 366,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871640.1",
"gene_hgnc_id": 18329,
"gene_symbol": "YPEL5",
"hgvs_c": "c.-85-3530C>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541699.1",
"strand": true,
"transcript": "ENST00000871640.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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