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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: 5-69534806-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=69534806&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "OCLN",
"hgnc_id": 8104,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_002538.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": null,
"alphamissense_prediction": null,
"alphamissense_score": 0.0626,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.43,
"chr": "5",
"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": 0.004742473363876343,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6181,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001205254.2",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396442.7",
"protein_coding": true,
"protein_id": "NP_001192183.1",
"strand": true,
"transcript": "NM_001205254.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6181,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000396442.7",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001205254.2",
"protein_coding": true,
"protein_id": "ENSP00000379719.2",
"strand": true,
"transcript": "ENST00000396442.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6438,
"cdna_start": 1440,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000355237.6",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347379.2",
"strand": true,
"transcript": "ENST00000355237.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 271,
"aa_ref": "R",
"aa_start": 84,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5391,
"cdna_start": 393,
"cds_end": null,
"cds_length": 816,
"cds_start": 251,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000538151.2",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.251G>A",
"hgvs_p": "p.Arg84Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445940.1",
"strand": true,
"transcript": "ENST00000538151.2",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6234,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001438604.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425533.1",
"strand": true,
"transcript": "NM_001438604.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6183,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_002538.4",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002529.1",
"strand": true,
"transcript": "NM_002538.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3604,
"cdna_start": 1435,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000680027.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506162.1",
"strand": true,
"transcript": "ENST00000680027.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3309,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000681041.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505426.1",
"strand": true,
"transcript": "ENST00000681041.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 1526,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000681586.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505541.1",
"strand": true,
"transcript": "ENST00000681586.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4719,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901828.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571887.1",
"strand": true,
"transcript": "ENST00000901828.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2785,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000901833.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571892.1",
"strand": true,
"transcript": "ENST00000901833.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3173,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000901834.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571893.1",
"strand": true,
"transcript": "ENST00000901834.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 2615,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935162.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605221.1",
"strand": true,
"transcript": "ENST00000935162.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5469,
"cdna_start": 2264,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935163.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605222.1",
"strand": true,
"transcript": "ENST00000935163.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4778,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955763.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625822.1",
"strand": true,
"transcript": "ENST00000955763.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2667,
"cdna_start": 1467,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955766.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625825.1",
"strand": true,
"transcript": "ENST00000955766.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 522,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3512,
"cdna_start": 2407,
"cds_end": null,
"cds_length": 1569,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000955767.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625826.1",
"strand": true,
"transcript": "ENST00000955767.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4349,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901830.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571889.1",
"strand": true,
"transcript": "ENST00000901830.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 508,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2379,
"cdna_start": 1224,
"cds_end": null,
"cds_length": 1527,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955764.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625823.1",
"strand": true,
"transcript": "ENST00000955764.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4624,
"cdna_start": 1125,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901827.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571886.1",
"strand": true,
"transcript": "ENST00000901827.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 504,
"aa_ref": "R",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1004,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000901829.1",
"gene_hgnc_id": 8104,
"gene_symbol": "OCLN",
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335Gln",
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