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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: 5-138557964-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138557964&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HSPA9",
"hgnc_id": 5244,
"hgvs_c": "c.1538G>C",
"hgvs_p": "p.Arg513Pro",
"inheritance_mode": "AD,AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_004134.7",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000299264",
"hgnc_id": 59150,
"hgvs_c": "n.153+14560C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 3,
"score": 3,
"transcript": "ENST00000762014.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.9938,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8302198648452759,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 679,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_004134.7",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1538G>C",
"hgvs_p": "p.Arg513Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297185.9",
"protein_coding": true,
"protein_id": "NP_004125.3",
"strand": false,
"transcript": "NM_004134.7",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 679,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4404,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 2040,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000297185.9",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1538G>C",
"hgvs_p": "p.Arg513Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004134.7",
"protein_coding": true,
"protein_id": "ENSP00000297185.3",
"strand": false,
"transcript": "ENST00000297185.9",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 740,
"aa_ref": "R",
"aa_start": 574,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2977,
"cdna_start": 1776,
"cds_end": null,
"cds_length": 2223,
"cds_start": 1721,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000946847.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1721G>C",
"hgvs_p": "p.Arg574Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616906.1",
"strand": false,
"transcript": "ENST00000946847.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 685,
"aa_ref": "R",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 2058,
"cds_start": 1556,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936338.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1556G>C",
"hgvs_p": "p.Arg519Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606397.1",
"strand": false,
"transcript": "ENST00000936338.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 677,
"aa_ref": "R",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3443,
"cdna_start": 1790,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1532,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000946842.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1532G>C",
"hgvs_p": "p.Arg511Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616901.1",
"strand": false,
"transcript": "ENST00000946842.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2809,
"cdna_start": 1612,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1529,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000852879.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1529G>C",
"hgvs_p": "p.Arg510Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522938.1",
"strand": false,
"transcript": "ENST00000852879.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 676,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2826,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 2031,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000946845.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1538G>C",
"hgvs_p": "p.Arg513Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616904.1",
"strand": false,
"transcript": "ENST00000946845.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 675,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2856,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 2028,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000936335.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1538G>C",
"hgvs_p": "p.Arg513Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606394.1",
"strand": false,
"transcript": "ENST00000936335.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 672,
"aa_ref": "R",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2789,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 2019,
"cds_start": 1517,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000946846.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1517G>C",
"hgvs_p": "p.Arg506Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616905.1",
"strand": false,
"transcript": "ENST00000946846.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 665,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 1651,
"cds_end": null,
"cds_length": 1998,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000507115.6",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1538G>C",
"hgvs_p": "p.Arg513Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423759.2",
"strand": false,
"transcript": "ENST00000507115.6",
"transcript_support_level": 3
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 660,
"aa_ref": "R",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1609,
"cds_end": null,
"cds_length": 1983,
"cds_start": 1538,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000852881.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1538G>C",
"hgvs_p": "p.Arg513Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522940.1",
"strand": false,
"transcript": "ENST00000852881.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 648,
"aa_ref": "R",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4327,
"cdna_start": 1544,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1445,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000677425.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1445G>C",
"hgvs_p": "p.Arg482Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503066.1",
"strand": false,
"transcript": "ENST00000677425.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3189,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1935,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000946843.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1433G>C",
"hgvs_p": "p.Arg478Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616902.1",
"strand": false,
"transcript": "ENST00000946843.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 610,
"aa_ref": "R",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4479,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1331,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000677066.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1331G>C",
"hgvs_p": "p.Arg444Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502902.1",
"strand": false,
"transcript": "ENST00000677066.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 610,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4415,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1331,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000678300.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1331G>C",
"hgvs_p": "p.Arg444Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503259.1",
"strand": false,
"transcript": "ENST00000678300.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 610,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4413,
"cdna_start": 1630,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1331,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000678384.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1331G>C",
"hgvs_p": "p.Arg444Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503992.1",
"strand": false,
"transcript": "ENST00000678384.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1432,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1328,
"consequences": [
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],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000946844.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1328G>C",
"hgvs_p": "p.Arg443Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616903.1",
"strand": false,
"transcript": "ENST00000946844.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4196,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 1812,
"cds_start": 1310,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000677064.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1310G>C",
"hgvs_p": "p.Arg437Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503373.1",
"strand": false,
"transcript": "ENST00000677064.1",
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},
{
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"aa_length": 577,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4370,
"cdna_start": 1587,
"cds_end": null,
"cds_length": 1734,
"cds_start": 1232,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000678051.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1232G>C",
"hgvs_p": "p.Arg411Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503219.1",
"strand": false,
"transcript": "ENST00000678051.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 572,
"aa_ref": "R",
"aa_start": 406,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2444,
"cdna_start": 1241,
"cds_end": null,
"cds_length": 1719,
"cds_start": 1217,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000946848.1",
"gene_hgnc_id": 5244,
"gene_symbol": "HSPA9",
"hgvs_c": "c.1217G>C",
"hgvs_p": "p.Arg406Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616907.1",
"strand": false,
"transcript": "ENST00000946848.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 533,
"aa_ref": "R",
"aa_start": 367,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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