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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: 11-108509712-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108509712&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXPH5",
"hgnc_id": 30578,
"hgvs_c": "c.5795C>T",
"hgvs_p": "p.Pro1932Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015065.3",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000296559",
"hgnc_id": null,
"hgvs_c": "n.325-5599G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000740313.1",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "LOC112267909",
"hgnc_id": null,
"hgvs_c": "n.591-5599G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "XR_007062880.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.0806,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05413314700126648,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1989,
"aa_ref": "P",
"aa_start": 1932,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10304,
"cdna_start": 6027,
"cds_end": null,
"cds_length": 5970,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_015065.3",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5795C>T",
"hgvs_p": "p.Pro1932Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265843.9",
"protein_coding": true,
"protein_id": "NP_055880.2",
"strand": false,
"transcript": "NM_015065.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1989,
"aa_ref": "P",
"aa_start": 1932,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10304,
"cdna_start": 6027,
"cds_end": null,
"cds_length": 5970,
"cds_start": 5795,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000265843.9",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5795C>T",
"hgvs_p": "p.Pro1932Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015065.3",
"protein_coding": true,
"protein_id": "ENSP00000265843.4",
"strand": false,
"transcript": "ENST00000265843.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1982,
"aa_ref": "P",
"aa_start": 1925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6542,
"cdna_start": 5779,
"cds_end": null,
"cds_length": 5949,
"cds_start": 5774,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000525344.5",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5774C>T",
"hgvs_p": "p.Pro1925Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432546.1",
"strand": false,
"transcript": "ENST00000525344.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "P",
"aa_start": 1931,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10301,
"cdna_start": 6024,
"cds_end": null,
"cds_length": 5967,
"cds_start": 5792,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001441059.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5792C>T",
"hgvs_p": "p.Pro1931Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427988.1",
"strand": false,
"transcript": "NM_001441059.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1982,
"aa_ref": "P",
"aa_start": 1925,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10086,
"cdna_start": 5809,
"cds_end": null,
"cds_length": 5949,
"cds_start": 5774,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001308019.2",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5774C>T",
"hgvs_p": "p.Pro1925Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001294948.1",
"strand": false,
"transcript": "NM_001308019.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1981,
"aa_ref": "P",
"aa_start": 1924,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10083,
"cdna_start": 5806,
"cds_end": null,
"cds_length": 5946,
"cds_start": 5771,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441060.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5771C>T",
"hgvs_p": "p.Pro1924Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427989.1",
"strand": false,
"transcript": "NM_001441060.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1913,
"aa_ref": "P",
"aa_start": 1856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10163,
"cdna_start": 5886,
"cds_end": null,
"cds_length": 5742,
"cds_start": 5567,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001144763.2",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5567C>T",
"hgvs_p": "p.Pro1856Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138235.1",
"strand": false,
"transcript": "NM_001144763.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1913,
"aa_ref": "P",
"aa_start": 1856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10372,
"cdna_start": 6095,
"cds_end": null,
"cds_length": 5742,
"cds_start": 5567,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441061.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5567C>T",
"hgvs_p": "p.Pro1856Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427990.1",
"strand": false,
"transcript": "NM_001441061.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1913,
"aa_ref": "P",
"aa_start": 1856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10084,
"cdna_start": 5807,
"cds_end": null,
"cds_length": 5742,
"cds_start": 5567,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001441067.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5567C>T",
"hgvs_p": "p.Pro1856Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427996.1",
"strand": false,
"transcript": "NM_001441067.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1913,
"aa_ref": "P",
"aa_start": 1856,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10187,
"cdna_start": 5910,
"cds_end": null,
"cds_length": 5742,
"cds_start": 5567,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001441068.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5567C>T",
"hgvs_p": "p.Pro1856Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427997.1",
"strand": false,
"transcript": "NM_001441068.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1913,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10428,
"cdna_start": 6151,
"cds_end": null,
"cds_length": 5742,
"cds_start": 5567,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441069.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5567C>T",
"hgvs_p": "p.Pro1856Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427998.1",
"strand": false,
"transcript": "NM_001441069.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10154,
"cdna_start": 5877,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001441070.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5567C>T",
"hgvs_p": "p.Pro1856Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001427999.1",
"strand": false,
"transcript": "NM_001441070.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1913,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10210,
"cdna_start": 5933,
"cds_end": null,
"cds_length": 5742,
"cds_start": 5567,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001441071.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5567C>T",
"hgvs_p": "p.Pro1856Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428000.1",
"strand": false,
"transcript": "NM_001441071.1",
"transcript_support_level": null
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 5954,
"cds_end": null,
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"cds_start": 5567,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441072.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5567C>T",
"hgvs_p": "p.Pro1856Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428001.1",
"strand": false,
"transcript": "NM_001441072.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1912,
"aa_ref": "P",
"aa_start": 1855,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10160,
"cdna_start": 5883,
"cds_end": null,
"cds_length": 5739,
"cds_start": 5564,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001441073.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5564C>T",
"hgvs_p": "p.Pro1855Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428002.1",
"strand": false,
"transcript": "NM_001441073.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1912,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10184,
"cdna_start": 5907,
"cds_end": null,
"cds_length": 5739,
"cds_start": 5564,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001441074.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5564C>T",
"hgvs_p": "p.Pro1855Leu",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001428003.1",
"strand": false,
"transcript": "NM_001441074.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001441075.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5564C>T",
"hgvs_p": "p.Pro1855Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428004.1",
"strand": false,
"transcript": "NM_001441075.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 5567,
"cds_end": null,
"cds_length": 5502,
"cds_start": 5327,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001144764.2",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5327C>T",
"hgvs_p": "p.Pro1776Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138236.1",
"strand": false,
"transcript": "NM_001144764.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 1832,
"aa_ref": "P",
"aa_start": 1775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9841,
"cdna_start": 5564,
"cds_end": null,
"cds_length": 5499,
"cds_start": 5324,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001441076.1",
"gene_hgnc_id": 30578,
"gene_symbol": "EXPH5",
"hgvs_c": "c.5324C>T",
"hgvs_p": "p.Pro1775Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001428005.1",
"strand": false,
"transcript": "NM_001441076.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 1801,
"aa_ref": "P",
"aa_start": 1744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9795,
"cdna_start": 5518,
"cds_end": null,
"cds_length": 5406,
"cds_start": 5231,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001144765.2",
"gene_hgnc_id": 30578,
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