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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: 1-244858246-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=244858246&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PVS1",
"PM2"
],
"effects": [
"stop_gained"
],
"gene_symbol": "HNRNPU",
"hgnc_id": 5048,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ser420*",
"inheritance_mode": "AD",
"pathogenic_score": 10,
"score": 10,
"transcript": "NM_031844.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_score": 10,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.63,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.6299999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "*",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1259,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_031844.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ser420*",
"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": "*",
"aa_end": null,
"aa_length": 825,
"aa_ref": "S",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6867,
"cdna_start": 1495,
"cds_end": null,
"cds_length": 2478,
"cds_start": 1259,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000640218.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ser420*",
"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": "*",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6827,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1202,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000444376.7",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Ser401*",
"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": "*",
"aa_end": null,
"aa_length": 549,
"aa_ref": "S",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7674,
"cdna_start": 2302,
"cds_end": null,
"cds_length": 1650,
"cds_start": 431,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000639628.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Ser144*",
"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": "*",
"aa_end": null,
"aa_length": 834,
"aa_ref": "S",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1521,
"cds_end": null,
"cds_length": 2505,
"cds_start": 1286,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000919769.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1286C>A",
"hgvs_p": "p.Ser429*",
"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": "*",
"aa_end": null,
"aa_length": 823,
"aa_ref": "S",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 1491,
"cds_end": null,
"cds_length": 2472,
"cds_start": 1253,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919767.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1253C>A",
"hgvs_p": "p.Ser418*",
"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": "*",
"aa_end": null,
"aa_length": 812,
"aa_ref": "S",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3464,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 2439,
"cds_start": 1220,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919768.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1220C>A",
"hgvs_p": "p.Ser407*",
"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": "*",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6789,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1202,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_004501.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Ser401*",
"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": "*",
"aa_end": null,
"aa_length": 806,
"aa_ref": "S",
"aa_start": 420,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3659,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2421,
"cds_start": 1259,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945104.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Ser420*",
"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": "*",
"aa_end": null,
"aa_length": 804,
"aa_ref": "S",
"aa_start": 399,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 1432,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1196,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000899281.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1196C>A",
"hgvs_p": "p.Ser399*",
"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": "*",
"aa_end": null,
"aa_length": 763,
"aa_ref": "S",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 2292,
"cds_start": 1202,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000945105.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Ser401*",
"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": "*",
"aa_end": null,
"aa_length": 761,
"aa_ref": "S",
"aa_start": 356,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2495,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 2286,
"cds_start": 1067,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000945106.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1067C>A",
"hgvs_p": "p.Ser356*",
"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": "*",
"aa_end": null,
"aa_length": 744,
"aa_ref": "S",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3120,
"cdna_start": 1203,
"cds_end": null,
"cds_length": 2235,
"cds_start": 1016,
"consequences": [
"stop_gained"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000283179.14",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1016C>A",
"hgvs_p": "p.Ser339*",
"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": "*",
"aa_end": null,
"aa_length": 740,
"aa_ref": "S",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3428,
"cdna_start": 1347,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1202,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919766.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Ser401*",
"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": "*",
"aa_end": null,
"aa_length": 735,
"aa_ref": "S",
"aa_start": 401,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3504,
"cdna_start": 1438,
"cds_end": null,
"cds_length": 2208,
"cds_start": 1202,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000919765.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.1202C>A",
"hgvs_p": "p.Ser401*",
"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": "*",
"aa_end": null,
"aa_length": 728,
"aa_ref": "S",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2698,
"cdna_start": 968,
"cds_end": null,
"cds_length": 2187,
"cds_start": 968,
"consequences": [
"stop_gained"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000638475.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.968C>A",
"hgvs_p": "p.Ser323*",
"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": "*",
"aa_end": null,
"aa_length": 664,
"aa_ref": "S",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3015,
"cdna_start": 880,
"cds_end": null,
"cds_length": 1995,
"cds_start": 878,
"consequences": [
"stop_gained"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000704074.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.878C>A",
"hgvs_p": "p.Ser293*",
"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": "*",
"aa_end": null,
"aa_length": 602,
"aa_ref": "S",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3207,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1809,
"cds_start": 590,
"consequences": [
"stop_gained"
],
"exon_count": 13,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000440865.2",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.590C>A",
"hgvs_p": "p.Ser197*",
"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": "*",
"aa_end": null,
"aa_length": 547,
"aa_ref": "S",
"aa_start": 142,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 438,
"cds_end": null,
"cds_length": 1644,
"cds_start": 425,
"consequences": [
"stop_gained"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000638716.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.425C>A",
"hgvs_p": "p.Ser142*",
"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": "*",
"aa_end": null,
"aa_length": 546,
"aa_ref": "S",
"aa_start": 144,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4227,
"cdna_start": 2289,
"cds_end": null,
"cds_length": 1641,
"cds_start": 431,
"consequences": [
"stop_gained"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000640001.1",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.431C>A",
"hgvs_p": "p.Ser144*",
"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": "*",
"aa_end": null,
"aa_length": 302,
"aa_ref": "S",
"aa_start": 81,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 242,
"cds_end": null,
"cds_length": 909,
"cds_start": 242,
"consequences": [
"stop_gained"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000483966.3",
"gene_hgnc_id": 5048,
"gene_symbol": "HNRNPU",
"hgvs_c": "c.242C>A",
"hgvs_p": "p.Ser81*",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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