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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: 6-35122123-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=35122123&ref=A&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": "TCP11",
"hgnc_id": 11658,
"hgvs_c": "c.572T>C",
"hgvs_p": "p.Leu191Pro",
"inheritance_mode": "AR",
"pathogenic_score": 3,
"score": 3,
"transcript": "NM_001370687.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_score": 3,
"allele_count_reference_population": 16,
"alphamissense_prediction": null,
"alphamissense_score": 0.7762,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.1,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8094488382339478,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 503,
"aa_ref": "L",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1512,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001370687.1",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.572T>C",
"hgvs_p": "p.Leu191Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000311875.11",
"protein_coding": true,
"protein_id": "NP_001357616.1",
"strand": false,
"transcript": "NM_001370687.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 503,
"aa_ref": "L",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1855,
"cdna_start": 721,
"cds_end": null,
"cds_length": 1512,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000311875.11",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.572T>C",
"hgvs_p": "p.Leu191Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001370687.1",
"protein_coding": true,
"protein_id": "ENSP00000308708.6",
"strand": false,
"transcript": "ENST00000311875.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 503,
"aa_ref": "L",
"aa_start": 191,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1669,
"cdna_start": 729,
"cds_end": null,
"cds_length": 1512,
"cds_start": 572,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000512012.5",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.572T>C",
"hgvs_p": "p.Leu191Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425995.1",
"strand": false,
"transcript": "ENST00000512012.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 441,
"aa_ref": "L",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2018,
"cdna_start": 886,
"cds_end": null,
"cds_length": 1326,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000244645.7",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000244645.3",
"strand": false,
"transcript": "ENST00000244645.7",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 440,
"aa_ref": "L",
"aa_start": 128,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 998,
"cds_end": null,
"cds_length": 1323,
"cds_start": 383,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000611141.4",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.383T>C",
"hgvs_p": "p.Leu128Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478603.1",
"strand": false,
"transcript": "ENST00000611141.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000455706.7",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "n.*540T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399012.3",
"strand": false,
"transcript": "ENST00000455706.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000504758.6",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "n.*652T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421916.2",
"strand": false,
"transcript": "ENST00000504758.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000505911.6",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "n.*637T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423293.2",
"strand": false,
"transcript": "ENST00000505911.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1962,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000455706.7",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "n.*540T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399012.3",
"strand": false,
"transcript": "ENST00000455706.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1978,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000504758.6",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "n.*652T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000421916.2",
"strand": false,
"transcript": "ENST00000504758.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1974,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000505911.6",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "n.*637T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000423293.2",
"strand": false,
"transcript": "ENST00000505911.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 516,
"aa_ref": "L",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1924,
"cdna_start": 792,
"cds_end": null,
"cds_length": 1551,
"cds_start": 611,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000673754.1",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.611T>C",
"hgvs_p": "p.Leu204Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501201.1",
"strand": false,
"transcript": "ENST00000673754.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 498,
"aa_ref": "L",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1840,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1497,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001261817.2",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Leu186Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248746.2",
"strand": false,
"transcript": "NM_001261817.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 498,
"aa_ref": "L",
"aa_start": 186,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1841,
"cdna_start": 706,
"cds_end": null,
"cds_length": 1497,
"cds_start": 557,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000444780.7",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.557T>C",
"hgvs_p": "p.Leu186Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404479.3",
"strand": false,
"transcript": "ENST00000444780.7",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "L",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 583,
"cds_end": null,
"cds_length": 1413,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001261818.2",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Leu158Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248747.1",
"strand": false,
"transcript": "NM_001261818.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 470,
"aa_ref": "L",
"aa_start": 158,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 615,
"cds_end": null,
"cds_length": 1413,
"cds_start": 473,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000373974.8",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.473T>C",
"hgvs_p": "p.Leu158Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363085.4",
"strand": false,
"transcript": "ENST00000373974.8",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 465,
"aa_ref": "L",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1702,
"cdna_start": 568,
"cds_end": null,
"cds_length": 1398,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001261819.2",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Leu153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248748.1",
"strand": false,
"transcript": "NM_001261819.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 465,
"aa_ref": "L",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 552,
"cds_end": null,
"cds_length": 1398,
"cds_start": 458,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000412155.6",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.458T>C",
"hgvs_p": "p.Leu153Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402816.2",
"strand": false,
"transcript": "ENST00000412155.6",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 441,
"aa_ref": "L",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": 677,
"cds_end": null,
"cds_length": 1326,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001366324.2",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001353253.1",
"strand": false,
"transcript": "NM_001366324.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 441,
"aa_ref": "L",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1949,
"cdna_start": 815,
"cds_end": null,
"cds_length": 1326,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_018679.6",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_061149.1",
"strand": false,
"transcript": "NM_018679.6",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 441,
"aa_ref": "L",
"aa_start": 129,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 744,
"cds_end": null,
"cds_length": 1326,
"cds_start": 386,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000373979.6",
"gene_hgnc_id": 11658,
"gene_symbol": "TCP11",
"hgvs_c": "c.386T>C",
"hgvs_p": "p.Leu129Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000363091.2",
"strand": false,
"transcript": "ENST00000373979.6",
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