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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: 17-3658129-TCTC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=3658129&ref=TCTC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM4_Supporting",
"PP5_Moderate"
],
"effects": [
"disruptive_inframe_deletion"
],
"gene_symbol": "CTNS",
"hgnc_id": 2518,
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"inheritance_mode": "AR",
"pathogenic_score": 5,
"score": 5,
"transcript": "NM_001031681.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP5_Moderate"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "CTNS-AS1",
"hgnc_id": 56090,
"hgvs_c": "n.-40_-38delGAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000575741.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting,PP5_Moderate",
"acmg_score": 5,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Nephropathic cystinosis,Nephrotic syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 367,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1104,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004937.3",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000046640.9",
"protein_coding": true,
"protein_id": "NP_004928.2",
"strand": true,
"transcript": "NM_004937.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 367,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4139,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1104,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000046640.9",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004937.3",
"protein_coding": true,
"protein_id": "ENSP00000046640.4",
"strand": true,
"transcript": "ENST00000046640.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1203,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000381870.8",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371294.3",
"strand": true,
"transcript": "ENST00000381870.8",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4051,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1203,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001031681.3",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001026851.2",
"strand": true,
"transcript": "NM_001031681.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3873,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 1203,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001374492.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361421.1",
"strand": true,
"transcript": "NM_001374492.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 367,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2657,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1104,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000673965.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500995.1",
"strand": true,
"transcript": "ENST00000673965.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 367,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2731,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1104,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000901058.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571117.1",
"strand": true,
"transcript": "ENST00000901058.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 367,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2632,
"cdna_start": 1164,
"cds_end": null,
"cds_length": 1104,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000941477.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611536.1",
"strand": true,
"transcript": "ENST00000941477.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 367,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2845,
"cdna_start": 1384,
"cds_end": null,
"cds_length": 1104,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000941478.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611537.1",
"strand": true,
"transcript": "ENST00000941478.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 253,
"aa_ref": "SY",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1570,
"cdna_start": 873,
"cds_end": null,
"cds_length": 762,
"cds_start": 368,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000574776.6",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.368_370delCCT",
"hgvs_p": "p.Ser123del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461118.2",
"strand": true,
"transcript": "ENST00000574776.6",
"transcript_support_level": 4
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 220,
"aa_ref": "SY",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4054,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 663,
"cds_start": 368,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001374493.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.368_370delCCT",
"hgvs_p": "p.Ser123del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361422.1",
"strand": true,
"transcript": "NM_001374493.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 220,
"aa_ref": "SY",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4059,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 663,
"cds_start": 368,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001374494.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.368_370delCCT",
"hgvs_p": "p.Ser123del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361423.1",
"strand": true,
"transcript": "NM_001374494.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 220,
"aa_ref": "SY",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3975,
"cdna_start": 946,
"cds_end": null,
"cds_length": 663,
"cds_start": 368,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374495.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.368_370delCCT",
"hgvs_p": "p.Ser123del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361424.1",
"strand": true,
"transcript": "NM_001374495.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 220,
"aa_ref": "SY",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3974,
"cdna_start": 945,
"cds_end": null,
"cds_length": 663,
"cds_start": 368,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001374496.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.368_370delCCT",
"hgvs_p": "p.Ser123del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001361425.1",
"strand": true,
"transcript": "NM_001374496.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 220,
"aa_ref": "SY",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 979,
"cds_end": null,
"cds_length": 663,
"cds_start": 368,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000673669.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.368_370delCCT",
"hgvs_p": "p.Ser123del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501123.1",
"strand": true,
"transcript": "ENST00000673669.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 116,
"aa_ref": "SY",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 351,
"cds_start": 56,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000488623.6",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.56_58delCCT",
"hgvs_p": "p.Ser19del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501016.1",
"strand": true,
"transcript": "ENST00000488623.6",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4046,
"cdna_start": 1283,
"cds_end": null,
"cds_length": 1203,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_006721463.4",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006721526.1",
"strand": true,
"transcript": "XM_006721463.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 400,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1203,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011523691.3",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521993.1",
"strand": true,
"transcript": "XM_011523691.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 298,
"aa_ref": "SY",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2825,
"cdna_start": 1110,
"cds_end": null,
"cds_length": 897,
"cds_start": 809,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047435501.1",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.809_811delCCT",
"hgvs_p": "p.Ser270del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291457.1",
"strand": true,
"transcript": "XM_047435501.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 253,
"aa_ref": "SY",
"aa_start": 123,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3793,
"cdna_start": 1030,
"cds_end": null,
"cds_length": 762,
"cds_start": 368,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_011523692.3",
"gene_hgnc_id": 2518,
"gene_symbol": "CTNS",
"hgvs_c": "c.368_370delCCT",
"hgvs_p": "p.Ser123del",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521994.1",
"strand": true,
"transcript": "XM_011523692.3",
"transcript_support_level": null
},
{
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{
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],
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}
]
}