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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: 9-127816025-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=127816025&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ENG",
"hgnc_id": 3349,
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_001114753.3",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000225032",
"hgnc_id": null,
"hgvs_c": "n.-41G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "ENST00000439298.5",
"verdict": "Benign"
},
{
"benign_score": 10,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LOC102723566",
"hgnc_id": null,
"hgvs_c": "n.-41G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -10,
"transcript": "NR_136302.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_score": -15,
"allele_count_reference_population": 84,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "9",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Cardiovascular phenotype,Hereditary hemorrhagic telangiectasia",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.4399999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 658,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001114753.3",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000373203.9",
"protein_coding": true,
"protein_id": "NP_001108225.1",
"strand": false,
"transcript": "NM_001114753.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 658,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000373203.9",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001114753.3",
"protein_coding": true,
"protein_id": "ENSP00000362299.4",
"strand": false,
"transcript": "ENST00000373203.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3198,
"cdna_start": 2188,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000344849.5",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341917.3",
"strand": false,
"transcript": "ENST00000344849.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 698,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2741,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 2097,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000714047.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519338.1",
"strand": false,
"transcript": "ENST00000714047.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 667,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2936,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 2004,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000713997.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519287.1",
"strand": false,
"transcript": "ENST00000713997.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 666,
"aa_ref": "P",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 2001,
"cds_start": 1794,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886306.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1794C>T",
"hgvs_p": "p.Pro598Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556365.1",
"strand": false,
"transcript": "ENST00000886306.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 663,
"aa_ref": "P",
"aa_start": 595,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3004,
"cdna_start": 2131,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1785,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000714082.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1785C>T",
"hgvs_p": "p.Pro595Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519373.1",
"strand": false,
"transcript": "ENST00000714082.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 658,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2998,
"cdna_start": 2126,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000942917.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612976.1",
"strand": false,
"transcript": "ENST00000942917.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 656,
"aa_ref": "P",
"aa_start": 588,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2097,
"cds_end": null,
"cds_length": 1971,
"cds_start": 1764,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886304.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1764C>T",
"hgvs_p": "p.Pro588Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556363.1",
"strand": false,
"transcript": "ENST00000886304.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "P",
"aa_start": 587,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1761,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000942919.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1761C>T",
"hgvs_p": "p.Pro587Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612978.1",
"strand": false,
"transcript": "ENST00000942919.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 650,
"aa_ref": "P",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2661,
"cdna_start": 1791,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1746,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000714046.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1746C>T",
"hgvs_p": "p.Pro582Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519337.1",
"strand": false,
"transcript": "ENST00000714046.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 650,
"aa_ref": "P",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 1908,
"cds_end": null,
"cds_length": 1953,
"cds_start": 1746,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942922.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1746C>T",
"hgvs_p": "p.Pro582Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612981.1",
"strand": false,
"transcript": "ENST00000942922.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 645,
"aa_ref": "P",
"aa_start": 577,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2970,
"cdna_start": 2095,
"cds_end": null,
"cds_length": 1938,
"cds_start": 1731,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000942918.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1731C>T",
"hgvs_p": "p.Pro577Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612977.1",
"strand": false,
"transcript": "ENST00000942918.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 644,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 2061,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1728,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886305.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1728C>T",
"hgvs_p": "p.Pro576Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556364.1",
"strand": false,
"transcript": "ENST00000886305.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 634,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 1905,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000714077.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519368.1",
"strand": false,
"transcript": "ENST00000714077.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 633,
"aa_ref": "P",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 1902,
"cds_start": 1695,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886310.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1695C>T",
"hgvs_p": "p.Pro565Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556369.1",
"strand": false,
"transcript": "ENST00000886310.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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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": 2073,
"cds_end": null,
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"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000714084.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000519375.1",
"strand": false,
"transcript": "ENST00000714084.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 625,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3082,
"cdna_start": 2073,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_000118.4",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1770C>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000109.1",
"strand": false,
"transcript": "NM_000118.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "P",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 1972,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1671,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000886308.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1671C>T",
"hgvs_p": "p.Pro557Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556367.1",
"strand": false,
"transcript": "ENST00000886308.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 621,
"aa_ref": "P",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2879,
"cdna_start": 2006,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1659,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000886303.1",
"gene_hgnc_id": 3349,
"gene_symbol": "ENG",
"hgvs_c": "c.1659C>T",
"hgvs_p": "p.Pro553Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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