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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: 2-60948050-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=60948050&ref=C&alt=A&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": "PUS10",
"hgnc_id": 26505,
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_144709.4",
"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": 0.6809,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.903617799282074,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_144709.4",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000316752.11",
"protein_coding": true,
"protein_id": "NP_653310.2",
"strand": false,
"transcript": "NM_144709.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4025,
"cdna_start": 1707,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000316752.11",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144709.4",
"protein_coding": true,
"protein_id": "ENSP00000326003.6",
"strand": false,
"transcript": "ENST00000316752.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6366,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000602599.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "n.4047G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000602599.1",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 537,
"aa_ref": "A",
"aa_start": 490,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3541,
"cdna_start": 1797,
"cds_end": null,
"cds_length": 1614,
"cds_start": 1468,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971235.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1468G>T",
"hgvs_p": "p.Ala490Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641294.1",
"strand": false,
"transcript": "ENST00000971235.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3782,
"cdna_start": 1654,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001322123.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309052.1",
"strand": false,
"transcript": "NM_001322123.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3651,
"cdna_start": 1523,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001322124.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309053.1",
"strand": false,
"transcript": "NM_001322124.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4435,
"cdna_start": 1504,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000407787.6",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386074.1",
"strand": false,
"transcript": "ENST00000407787.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6160,
"cdna_start": 1760,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000902119.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572178.1",
"strand": false,
"transcript": "ENST00000902119.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": 2052,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000902123.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572182.1",
"strand": false,
"transcript": "ENST00000902123.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3959,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000902124.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572183.1",
"strand": false,
"transcript": "ENST00000902124.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3950,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000902125.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572184.1",
"strand": false,
"transcript": "ENST00000902125.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3699,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000902126.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572185.1",
"strand": false,
"transcript": "ENST00000902126.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2931,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000902127.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572186.1",
"strand": false,
"transcript": "ENST00000902127.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2307,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000902128.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572187.1",
"strand": false,
"transcript": "ENST00000902128.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3702,
"cdna_start": 1574,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000971231.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641290.1",
"strand": false,
"transcript": "ENST00000971231.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3666,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000971232.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641291.1",
"strand": false,
"transcript": "ENST00000971232.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 529,
"aa_ref": "A",
"aa_start": 482,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4344,
"cdna_start": 2223,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1444,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000971233.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1444G>T",
"hgvs_p": "p.Ala482Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641292.1",
"strand": false,
"transcript": "ENST00000971233.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 471,
"aa_ref": "A",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3658,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 1416,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000902121.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1270G>T",
"hgvs_p": "p.Ala424Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572180.1",
"strand": false,
"transcript": "ENST00000902121.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 444,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4019,
"cdna_start": 1397,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000902120.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1189G>T",
"hgvs_p": "p.Ala397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572179.1",
"strand": false,
"transcript": "ENST00000902120.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 444,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 1274,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000902129.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1189G>T",
"hgvs_p": "p.Ala397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572188.1",
"strand": false,
"transcript": "ENST00000902129.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 444,
"aa_ref": "A",
"aa_start": 397,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1189,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000971234.1",
"gene_hgnc_id": 26505,
"gene_symbol": "PUS10",
"hgvs_c": "c.1189G>T",
"hgvs_p": "p.Ala397Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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]
}