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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: 1-244855953-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244855953&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "HNRNPU",
"hgnc_id": 5048,
"hgvs_c": "c.2118T>C",
"hgvs_p": "p.His706His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_031844.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "1",
"clinvar_classification": "Likely benign",
"clinvar_disease": " 54,Developmental and epileptic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5400000214576721,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 825,
"aa_ref": "H",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2118,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_031844.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2118T>C",
"hgvs_p": "p.His706His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000640218.2",
"protein_coding": true,
"protein_id": "NP_114032.2",
"strand": false,
"transcript": "NM_031844.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 825,
"aa_ref": "H",
"aa_start": 706,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 2354,
"cds_end": null,
"cds_length": 2478,
"cds_start": 2118,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000640218.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2118T>C",
"hgvs_p": "p.His706His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031844.3",
"protein_coding": true,
"protein_id": "ENSP00000491215.1",
"strand": false,
"transcript": "ENST00000640218.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 806,
"aa_ref": "H",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6827,
"cdna_start": 2314,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2061,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000444376.7",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2061T>C",
"hgvs_p": "p.His687His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000393151.2",
"strand": false,
"transcript": "ENST00000444376.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 549,
"aa_ref": "H",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7674,
"cdna_start": 3161,
"cds_end": null,
"cds_length": 1650,
"cds_start": 1290,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000639628.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1290T>C",
"hgvs_p": "p.His430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491340.1",
"strand": false,
"transcript": "ENST00000639628.2",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 834,
"aa_ref": "H",
"aa_start": 715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 2380,
"cds_end": null,
"cds_length": 2505,
"cds_start": 2145,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000919769.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2145T>C",
"hgvs_p": "p.His715His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589828.1",
"strand": false,
"transcript": "ENST00000919769.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 823,
"aa_ref": "H",
"aa_start": 704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 2350,
"cds_end": null,
"cds_length": 2472,
"cds_start": 2112,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919767.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2112T>C",
"hgvs_p": "p.His704His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589826.1",
"strand": false,
"transcript": "ENST00000919767.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 812,
"aa_ref": "H",
"aa_start": 693,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 2312,
"cds_end": null,
"cds_length": 2439,
"cds_start": 2079,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000919768.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2079T>C",
"hgvs_p": "p.His693His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589827.1",
"strand": false,
"transcript": "ENST00000919768.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 806,
"aa_ref": "H",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6789,
"cdna_start": 2279,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2061,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_004501.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2061T>C",
"hgvs_p": "p.His687His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004492.2",
"strand": false,
"transcript": "NM_004501.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 806,
"aa_ref": "H",
"aa_start": 687,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 2240,
"cds_end": null,
"cds_length": 2421,
"cds_start": 2061,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945104.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2061T>C",
"hgvs_p": "p.His687His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615163.1",
"strand": false,
"transcript": "ENST00000945104.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 804,
"aa_ref": "H",
"aa_start": 685,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 2291,
"cds_end": null,
"cds_length": 2415,
"cds_start": 2055,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000899281.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.2055T>C",
"hgvs_p": "p.His685His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000569340.1",
"strand": false,
"transcript": "ENST00000899281.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 763,
"aa_ref": "H",
"aa_start": 644,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 2108,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1932,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945105.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1932T>C",
"hgvs_p": "p.His644His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615164.1",
"strand": false,
"transcript": "ENST00000945105.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 761,
"aa_ref": "H",
"aa_start": 642,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1926,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945106.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1926T>C",
"hgvs_p": "p.His642His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615165.1",
"strand": false,
"transcript": "ENST00000945106.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 744,
"aa_ref": "H",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 2062,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1875,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000283179.14",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1875T>C",
"hgvs_p": "p.His625His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000283179.10",
"strand": false,
"transcript": "ENST00000283179.14",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 737,
"aa_ref": "H",
"aa_start": 618,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 2088,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1854,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000919770.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1854T>C",
"hgvs_p": "p.His618His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589829.1",
"strand": false,
"transcript": "ENST00000919770.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 728,
"aa_ref": "H",
"aa_start": 609,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 1827,
"cds_end": null,
"cds_length": 2187,
"cds_start": 1827,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000638475.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1827T>C",
"hgvs_p": "p.His609His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491305.1",
"strand": false,
"transcript": "ENST00000638475.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 718,
"aa_ref": "H",
"aa_start": 599,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 1966,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1797,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000919771.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1797T>C",
"hgvs_p": "p.His599His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589830.1",
"strand": false,
"transcript": "ENST00000919771.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 664,
"aa_ref": "H",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 1995,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000704074.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1737T>C",
"hgvs_p": "p.His579His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515674.1",
"strand": false,
"transcript": "ENST00000704074.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 602,
"aa_ref": "H",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 1809,
"cds_start": 1449,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000440865.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1449T>C",
"hgvs_p": "p.His483His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410728.2",
"strand": false,
"transcript": "ENST00000440865.2",
"transcript_support_level": 2
},
{
"aa_alt": "H",
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"aa_length": 547,
"aa_ref": "H",
"aa_start": 428,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 1644,
"cds_start": 1284,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000638716.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1284T>C",
"hgvs_p": "p.His428His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491601.1",
"strand": false,
"transcript": "ENST00000638716.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 546,
"aa_ref": "H",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 3148,
"cds_end": null,
"cds_length": 1641,
"cds_start": 1290,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000640001.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1290T>C",
"hgvs_p": "p.His430His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000491294.1",
"strand": false,
"transcript": "ENST00000640001.1",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 399,
"aa_ref": "H",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2440,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1200,
"cds_start": 840,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
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