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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: 1-219173919-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=219173919&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LYPLAL1",
"hgnc_id": 20440,
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001350628.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LYPLAL1-DT",
"hgnc_id": 50560,
"hgvs_c": "n.43T>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000668290.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 11,
"alphamissense_prediction": null,
"alphamissense_score": 0.0771,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.63,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09665495157241821,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 237,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 42,
"cds_end": null,
"cds_length": 714,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_138794.5",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366928.10",
"protein_coding": true,
"protein_id": "NP_620149.2",
"strand": true,
"transcript": "NM_138794.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 237,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1857,
"cdna_start": 42,
"cds_end": null,
"cds_length": 714,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000366928.10",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_138794.5",
"protein_coding": true,
"protein_id": "ENSP00000355895.5",
"strand": true,
"transcript": "ENST00000366928.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 221,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1819,
"cdna_start": 45,
"cds_end": null,
"cds_length": 666,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000366927.3",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355894.3",
"strand": true,
"transcript": "ENST00000366927.3",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 246,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 42,
"cds_end": null,
"cds_length": 741,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001350628.2",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337557.1",
"strand": true,
"transcript": "NM_001350628.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 246,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2968,
"cdna_start": 49,
"cds_end": null,
"cds_length": 741,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000910159.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580218.1",
"strand": true,
"transcript": "ENST00000910159.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 237,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 42,
"cds_end": null,
"cds_length": 714,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000910160.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580219.1",
"strand": true,
"transcript": "ENST00000910160.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 236,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 65,
"cds_end": null,
"cds_length": 711,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000910161.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580220.1",
"strand": true,
"transcript": "ENST00000910161.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 42,
"cds_end": null,
"cds_length": 693,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001350629.2",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337558.1",
"strand": true,
"transcript": "NM_001350629.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 230,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 794,
"cdna_start": 42,
"cds_end": null,
"cds_length": 693,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000910163.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580222.1",
"strand": true,
"transcript": "ENST00000910163.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 221,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 42,
"cds_end": null,
"cds_length": 666,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001300770.2",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287699.1",
"strand": true,
"transcript": "NM_001300770.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 221,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2895,
"cdna_start": 51,
"cds_end": null,
"cds_length": 666,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000910158.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580217.1",
"strand": true,
"transcript": "ENST00000910158.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 220,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1284,
"cdna_start": 51,
"cds_end": null,
"cds_length": 663,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000910162.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000580221.1",
"strand": true,
"transcript": "ENST00000910162.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 186,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 42,
"cds_end": null,
"cds_length": 561,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001300769.2",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287698.1",
"strand": true,
"transcript": "NM_001300769.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 147,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 579,
"cdna_start": 67,
"cds_end": null,
"cds_length": 444,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000917492.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587551.1",
"strand": true,
"transcript": "ENST00000917492.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 246,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11759,
"cdna_start": 42,
"cds_end": null,
"cds_length": 741,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_017000271.3",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016855760.1",
"strand": true,
"transcript": "XM_017000271.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 237,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11732,
"cdna_start": 42,
"cds_end": null,
"cds_length": 714,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047445134.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301090.1",
"strand": true,
"transcript": "XM_047445134.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 221,
"aa_ref": "Q",
"aa_start": 10,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11684,
"cdna_start": 42,
"cds_end": null,
"cds_length": 666,
"cds_start": 29,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047445138.1",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.29A>C",
"hgvs_p": "p.Gln10Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047301094.1",
"strand": true,
"transcript": "XM_047445138.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 199,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": null,
"cds_end": null,
"cds_length": 600,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001300771.2",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "c.-409A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287700.1",
"strand": true,
"transcript": "NM_001300771.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1703,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000460522.5",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "n.51A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000460522.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000463964.5",
"gene_hgnc_id": 20440,
"gene_symbol": "LYPLAL1",
"hgvs_c": "n.25A>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000463964.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1715,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
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