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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: 1-244858773-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244858773&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HNRNPU",
"hgnc_id": 5048,
"hgvs_c": "c.1186T>C",
"hgvs_p": "p.Tyr396His",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_031844.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9333,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": " 54,Developmental and epileptic encephalopathy",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8701246380805969,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 825,
"aa_ref": "Y",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_031844.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1186T>C",
"hgvs_p": "p.Tyr396His",
"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": "Y",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 1422,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000640218.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1186T>C",
"hgvs_p": "p.Tyr396His",
"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": "Y",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6827,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000444376.7",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Tyr377His",
"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": "Y",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7674,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 1650,
"cds_start": 358,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000639628.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.358T>C",
"hgvs_p": "p.Tyr120His",
"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": "Y",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1213,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919769.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1213T>C",
"hgvs_p": "p.Tyr405His",
"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": "Y",
"aa_start": 394,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1180,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919767.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1180T>C",
"hgvs_p": "p.Tyr394His",
"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": "Y",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919768.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1147T>C",
"hgvs_p": "p.Tyr383His",
"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": "Y",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6789,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_004501.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Tyr377His",
"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": "Y",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945104.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1186T>C",
"hgvs_p": "p.Tyr396His",
"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": "Y",
"aa_start": 375,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1123,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000899281.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1123T>C",
"hgvs_p": "p.Tyr375His",
"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": "Y",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945105.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Tyr377His",
"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": "Y",
"aa_start": 332,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1170,
"cds_end": null,
"cds_length": 2286,
"cds_start": 994,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000945106.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.994T>C",
"hgvs_p": "p.Tyr332His",
"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",
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"aa_length": 744,
"aa_ref": "Y",
"aa_start": 315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 1130,
"cds_end": null,
"cds_length": 2235,
"cds_start": 943,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000283179.14",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.943T>C",
"hgvs_p": "p.Tyr315His",
"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": 740,
"aa_ref": "Y",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919766.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Tyr377His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589825.1",
"strand": false,
"transcript": "ENST00000919766.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 737,
"aa_ref": "Y",
"aa_start": 396,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2762,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 2214,
"cds_start": 1186,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919770.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1186T>C",
"hgvs_p": "p.Tyr396His",
"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": 735,
"aa_ref": "Y",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 1365,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919765.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Tyr377His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589824.1",
"strand": false,
"transcript": "ENST00000919765.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 728,
"aa_ref": "Y",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 895,
"cds_end": null,
"cds_length": 2187,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000638475.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.895T>C",
"hgvs_p": "p.Tyr299His",
"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",
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"aa_length": 718,
"aa_ref": "Y",
"aa_start": 377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 1298,
"cds_end": null,
"cds_length": 2157,
"cds_start": 1129,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000919771.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1129T>C",
"hgvs_p": "p.Tyr377His",
"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",
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"aa_length": 664,
"aa_ref": "Y",
"aa_start": 269,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 807,
"cds_end": null,
"cds_length": 1995,
"cds_start": 805,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000704074.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.805T>C",
"hgvs_p": "p.Tyr269His",
"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",
"aa_end": null,
"aa_length": 602,
"aa_ref": "Y",
"aa_start": 173,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 871,
"cds_end": null,
"cds_length": 1809,
"cds_start": 517,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000440865.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.517T>C",
"hgvs_p": "p.Tyr173His",
"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",
"aa_end": null,
"aa_length": 547,
"aa_ref": "Y",
"aa_start": 118,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 365,
"cds_end": null,
"cds_length": 1644,
"cds_start": 352,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
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