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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: 1-35094043-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=35094043&ref=G&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": "ZMYM1",
"hgnc_id": 26253,
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_024772.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.0808,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.61,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07336583733558655,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 188,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_024772.5",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359858.9",
"protein_coding": true,
"protein_id": "NP_079048.3",
"strand": true,
"transcript": "NM_024772.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4161,
"cdna_start": 188,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000359858.9",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_024772.5",
"protein_coding": true,
"protein_id": "ENSP00000352920.4",
"strand": true,
"transcript": "ENST00000359858.9",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4203,
"cdna_start": 230,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000373330.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000362427.1",
"strand": true,
"transcript": "ENST00000373330.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3980,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000373329.5",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "n.53-1776G>C",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000373329.5",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4178,
"cdna_start": 193,
"cds_end": null,
"cds_length": 3450,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000964799.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634858.1",
"strand": true,
"transcript": "ENST00000964799.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1149,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4334,
"cdna_start": 344,
"cds_end": null,
"cds_length": 3450,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964800.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634859.1",
"strand": true,
"transcript": "ENST00000964800.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4469,
"cdna_start": 496,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001289088.2",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276017.1",
"strand": true,
"transcript": "NM_001289088.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4209,
"cdna_start": 236,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001289090.2",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001276019.1",
"strand": true,
"transcript": "NM_001289090.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4466,
"cdna_start": 496,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000611874.4",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482579.1",
"strand": true,
"transcript": "ENST00000611874.4",
"transcript_support_level": 2
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7802,
"cdna_start": 870,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000650449.2",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000496876.1",
"strand": true,
"transcript": "ENST00000650449.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4807,
"cdna_start": 300,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905955.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576014.1",
"strand": true,
"transcript": "ENST00000905955.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4844,
"cdna_start": 309,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000931030.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601089.1",
"strand": true,
"transcript": "ENST00000931030.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4833,
"cdna_start": 294,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000931031.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601090.1",
"strand": true,
"transcript": "ENST00000931031.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4644,
"cdna_start": 679,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931032.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601091.1",
"strand": true,
"transcript": "ENST00000931032.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4316,
"cdna_start": 351,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000931034.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601093.1",
"strand": true,
"transcript": "ENST00000931034.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4317,
"cdna_start": 349,
"cds_end": null,
"cds_length": 3429,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000931035.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601094.1",
"strand": true,
"transcript": "ENST00000931035.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 202,
"cds_end": null,
"cds_length": 3393,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000905956.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576015.1",
"strand": true,
"transcript": "ENST00000905956.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4200,
"cdna_start": 526,
"cds_end": null,
"cds_length": 3393,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905958.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576017.1",
"strand": true,
"transcript": "ENST00000905958.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4843,
"cdna_start": 332,
"cds_end": null,
"cds_length": 3393,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000931028.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601087.1",
"strand": true,
"transcript": "ENST00000931028.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1130,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3973,
"cdna_start": 614,
"cds_end": null,
"cds_length": 3393,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000964801.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634860.1",
"strand": true,
"transcript": "ENST00000964801.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1129,
"aa_ref": "G",
"aa_start": 19,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3783,
"cdna_start": 181,
"cds_end": null,
"cds_length": 3390,
"cds_start": 56,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000931036.1",
"gene_hgnc_id": 26253,
"gene_symbol": "ZMYM1",
"hgvs_c": "c.56G>C",
"hgvs_p": "p.Gly19Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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"transcript": "NM_024772.5"
}
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}