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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: 17-17862821-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17862821&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TOM1L2",
"hgnc_id": 11984,
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001350332.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000301763",
"hgnc_id": null,
"hgvs_c": "n.68-6453G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000781607.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4286,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.33499404788017273,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001082968.2",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000379504.8",
"protein_coding": true,
"protein_id": "NP_001076437.1",
"strand": false,
"transcript": "NM_001082968.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 507,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000379504.8",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001082968.2",
"protein_coding": true,
"protein_id": "ENSP00000368818.3",
"strand": false,
"transcript": "ENST00000379504.8",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 457,
"aa_ref": "T",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5599,
"cdna_start": 1059,
"cds_end": null,
"cds_length": 1374,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000581396.6",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Thr321Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464297.1",
"strand": false,
"transcript": "ENST00000581396.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 592,
"aa_ref": "T",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5993,
"cdna_start": 1367,
"cds_end": null,
"cds_length": 1779,
"cds_start": 1280,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000890541.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1280C>T",
"hgvs_p": "p.Thr427Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560600.1",
"strand": false,
"transcript": "ENST00000890541.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 588,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1915,
"cdna_start": 1176,
"cds_end": null,
"cds_length": 1767,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890561.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560620.1",
"strand": false,
"transcript": "ENST00000890561.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 543,
"aa_ref": "T",
"aa_start": 427,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5267,
"cdna_start": 1364,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1280,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000890555.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1280C>T",
"hgvs_p": "p.Thr427Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560614.1",
"strand": false,
"transcript": "ENST00000890555.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 536,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5822,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350332.2",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337261.1",
"strand": false,
"transcript": "NM_001350332.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 536,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5861,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890527.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560585.1",
"strand": false,
"transcript": "ENST00000890527.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 535,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5816,
"cdna_start": 1196,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890553.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560612.1",
"strand": false,
"transcript": "ENST00000890553.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 530,
"aa_ref": "T",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1815,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 1593,
"cds_start": 1094,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890559.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Thr365Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560618.1",
"strand": false,
"transcript": "ENST00000890559.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5817,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890537.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560595.1",
"strand": false,
"transcript": "ENST00000890537.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5787,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000950983.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621042.1",
"strand": false,
"transcript": "ENST00000950983.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 528,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5815,
"cdna_start": 1215,
"cds_end": null,
"cds_length": 1587,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890535.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560594.1",
"strand": false,
"transcript": "ENST00000890535.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 365,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5722,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1094,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000950984.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1094C>T",
"hgvs_p": "p.Thr365Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621043.1",
"strand": false,
"transcript": "ENST00000950984.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 506,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5742,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 1521,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890538.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560596.1",
"strand": false,
"transcript": "ENST00000890538.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 491,
"aa_ref": "T",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5706,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1476,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890534.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Thr326Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560592.1",
"strand": false,
"transcript": "ENST00000890534.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 487,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5675,
"cdna_start": 1199,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350333.2",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337262.1",
"strand": false,
"transcript": "NM_001350333.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 487,
"aa_ref": "T",
"aa_start": 371,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5745,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1112,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000890524.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.1112C>T",
"hgvs_p": "p.Thr371Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560582.1",
"strand": false,
"transcript": "ENST00000890524.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 486,
"aa_ref": "T",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5675,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1461,
"cds_start": 962,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890539.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.962C>T",
"hgvs_p": "p.Thr321Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560598.1",
"strand": false,
"transcript": "ENST00000890539.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 484,
"aa_ref": "T",
"aa_start": 326,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5664,
"cdna_start": 1074,
"cds_end": null,
"cds_length": 1455,
"cds_start": 977,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000890549.1",
"gene_hgnc_id": 11984,
"gene_symbol": "TOM1L2",
"hgvs_c": "c.977C>T",
"hgvs_p": "p.Thr326Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000560607.1",
"strand": false,
"transcript": "ENST00000890549.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
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