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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: 11-123059588-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=123059588&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HSPA8",
"hgnc_id": 5241,
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_006597.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "SNORD14C",
"hgnc_id": 30352,
"hgvs_c": "n.-166C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_001453.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.57,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5699999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_006597.6",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000534624.6",
"protein_coding": true,
"protein_id": "NP_006588.1",
"strand": false,
"transcript": "NM_006597.6",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000534624.6",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006597.6",
"protein_coding": true,
"protein_id": "ENSP00000432083.1",
"strand": false,
"transcript": "ENST00000534624.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2186,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000227378.7",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000227378.3",
"strand": false,
"transcript": "ENST00000227378.7",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 493,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 1282,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000453788.6",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404372.2",
"strand": false,
"transcript": "ENST00000453788.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1509,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000527983.5",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "n.1154C>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000527983.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 652,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1959,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935613.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605672.1",
"strand": false,
"transcript": "ENST00000935613.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 649,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2273,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876976.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547035.1",
"strand": false,
"transcript": "ENST00000876976.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2306,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000532636.5",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437125.1",
"strand": false,
"transcript": "ENST00000532636.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2516,
"cdna_start": 1335,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876974.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547033.1",
"strand": false,
"transcript": "ENST00000876974.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2305,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935611.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605670.1",
"strand": false,
"transcript": "ENST00000935611.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000935614.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605673.1",
"strand": false,
"transcript": "ENST00000935614.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 646,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2403,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1941,
"cds_start": 1005,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000971746.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641805.1",
"strand": false,
"transcript": "ENST00000971746.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 627,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 955,
"cds_end": null,
"cds_length": 1884,
"cds_start": 948,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000526110.5",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.948C>A",
"hgvs_p": "p.Val316Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433584.1",
"strand": false,
"transcript": "ENST00000526110.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 603,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2134,
"cdna_start": 1086,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1005,
"consequences": [
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],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000971745.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641804.1",
"strand": false,
"transcript": "ENST00000971745.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 590,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935616.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605675.1",
"strand": false,
"transcript": "ENST00000935616.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 500,
"aa_ref": "V",
"aa_start": 189,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1826,
"cdna_start": 645,
"cds_end": null,
"cds_length": 1503,
"cds_start": 567,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000533540.5",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.567C>A",
"hgvs_p": "p.Val189Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437189.1",
"strand": false,
"transcript": "ENST00000533540.5",
"transcript_support_level": 5
},
{
"aa_alt": "V",
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"aa_length": 494,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1863,
"cdna_start": 1134,
"cds_end": null,
"cds_length": 1485,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935612.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605671.1",
"strand": false,
"transcript": "ENST00000935612.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 493,
"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 1083,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_153201.4",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_694881.1",
"strand": false,
"transcript": "NM_153201.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "V",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1119,
"cds_end": null,
"cds_length": 1482,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000876975.1",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.1005C>A",
"hgvs_p": "p.Val335Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000547034.1",
"strand": false,
"transcript": "ENST00000876975.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 410,
"aa_ref": "V",
"aa_start": 99,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 712,
"cds_end": null,
"cds_length": 1233,
"cds_start": 297,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000534319.5",
"gene_hgnc_id": 5241,
"gene_symbol": "HSPA8",
"hgvs_c": "c.297C>A",
"hgvs_p": "p.Val99Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000433316.1",
"strand": false,
"transcript": "ENST00000534319.5",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 311,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1112,
"cdna_start": 1000,
"cds_end": null,
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