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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: 12-109088246-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109088246&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALKBH2",
"hgnc_id": 32487,
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001001655.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "USP30",
"hgnc_id": 20065,
"hgvs_c": "c.*2315A>G",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_032663.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8578,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.25,
"chr": "12",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.6525959968566895,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145374.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000429722.3",
"protein_coding": true,
"protein_id": "NP_001138846.1",
"strand": false,
"transcript": "NM_001145374.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1180,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000429722.3",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001145374.2",
"protein_coding": true,
"protein_id": "ENSP00000398181.1",
"strand": false,
"transcript": "ENST00000429722.3",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 973,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000343075.7",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000343021.3",
"strand": false,
"transcript": "ENST00000343075.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 157,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 574,
"cdna_start": null,
"cds_end": null,
"cds_length": 474,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000440112.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.*73T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000399820.2",
"strand": false,
"transcript": "ENST00000440112.2",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1030,
"cdna_start": 973,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001001655.3",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001001655.1",
"strand": false,
"transcript": "NM_001001655.3",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 927,
"cdna_start": 870,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145375.2",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138847.1",
"strand": false,
"transcript": "NM_001145375.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1121,
"cdna_start": 1063,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861370.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531429.1",
"strand": false,
"transcript": "ENST00000861370.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 947,
"cdna_start": 890,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861371.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531430.1",
"strand": false,
"transcript": "ENST00000861371.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1099,
"cdna_start": 1042,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861372.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531431.1",
"strand": false,
"transcript": "ENST00000861372.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1096,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861373.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531432.1",
"strand": false,
"transcript": "ENST00000861373.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": 978,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861374.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531433.1",
"strand": false,
"transcript": "ENST00000861374.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1337,
"cdna_start": 1280,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931219.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601278.1",
"strand": false,
"transcript": "ENST00000931219.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 859,
"cdna_start": 802,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931220.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601279.1",
"strand": false,
"transcript": "ENST00000931220.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 997,
"cdna_start": 940,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931221.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601280.1",
"strand": false,
"transcript": "ENST00000931221.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1052,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931222.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601281.1",
"strand": false,
"transcript": "ENST00000931222.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1043,
"cdna_start": 988,
"cds_end": null,
"cds_length": 786,
"cds_start": 746,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000950638.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.746T>C",
"hgvs_p": "p.Val249Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620697.1",
"strand": false,
"transcript": "ENST00000950638.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 260,
"aa_ref": "V",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 985,
"cdna_start": 928,
"cds_end": null,
"cds_length": 783,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000861375.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Val248Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531434.1",
"strand": false,
"transcript": "ENST00000861375.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 260,
"aa_ref": "V",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1486,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 783,
"cds_start": 743,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000950637.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.743T>C",
"hgvs_p": "p.Val248Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620696.1",
"strand": false,
"transcript": "ENST00000950637.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 229,
"aa_ref": "V",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1048,
"cdna_start": 993,
"cds_end": null,
"cds_length": 690,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931223.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601282.1",
"strand": false,
"transcript": "ENST00000931223.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 229,
"aa_ref": "V",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 892,
"cdna_start": 835,
"cds_end": null,
"cds_length": 690,
"cds_start": 650,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000931224.1",
"gene_hgnc_id": 32487,
"gene_symbol": "ALKBH2",
"hgvs_c": "c.650T>C",
"hgvs_p": "p.Val217Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601283.1",
"strand": false,
"transcript": "ENST00000931224.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 229,
"aa_ref": "V",
"aa_start": 217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1407,
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