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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: 10-88913267-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=88913267&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "STAMBPL1",
"hgnc_id": 24105,
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_020799.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 219529,
"alphamissense_prediction": null,
"alphamissense_score": 0.0649,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.74,
"chr": "10",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0011698603630065918,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_020799.4",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000371926.8",
"protein_coding": true,
"protein_id": "NP_065850.1",
"strand": true,
"transcript": "NM_020799.4",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2021,
"cdna_start": 1034,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000371926.8",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_020799.4",
"protein_coding": true,
"protein_id": "ENSP00000360994.3",
"strand": true,
"transcript": "ENST00000371926.8",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 1221,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000371924.5",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360992.1",
"strand": true,
"transcript": "ENST00000371924.5",
"transcript_support_level": 1
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 461,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4184,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1386,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000371927.7",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000360995.3",
"strand": true,
"transcript": "ENST00000371927.7",
"transcript_support_level": 2
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3621,
"cdna_start": 1181,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863310.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533369.1",
"strand": true,
"transcript": "ENST00000863310.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2765,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863312.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533371.1",
"strand": true,
"transcript": "ENST00000863312.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 1331,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000863313.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533372.1",
"strand": true,
"transcript": "ENST00000863313.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863315.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533374.1",
"strand": true,
"transcript": "ENST00000863315.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2064,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863316.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533375.1",
"strand": true,
"transcript": "ENST00000863316.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2089,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863317.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533376.1",
"strand": true,
"transcript": "ENST00000863317.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 817,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863319.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533378.1",
"strand": true,
"transcript": "ENST00000863319.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3796,
"cdna_start": 2809,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863320.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533379.1",
"strand": true,
"transcript": "ENST00000863320.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2167,
"cdna_start": 1180,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000927834.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597893.1",
"strand": true,
"transcript": "ENST00000927834.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 796,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000927835.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597894.1",
"strand": true,
"transcript": "ENST00000927835.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2140,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951665.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621724.1",
"strand": true,
"transcript": "ENST00000951665.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2458,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000951667.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621726.1",
"strand": true,
"transcript": "ENST00000951667.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951668.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621727.1",
"strand": true,
"transcript": "ENST00000951668.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2852,
"cdna_start": 1867,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000951669.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621728.1",
"strand": true,
"transcript": "ENST00000951669.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 436,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1711,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1311,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000951670.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000621729.1",
"strand": true,
"transcript": "ENST00000951670.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 434,
"aa_ref": "S",
"aa_start": 196,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1166,
"cds_end": null,
"cds_length": 1305,
"cds_start": 587,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000863311.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.587G>A",
"hgvs_p": "p.Ser196Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533370.1",
"strand": true,
"transcript": "ENST00000863311.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 433,
"aa_ref": "S",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2004,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1302,
"cds_start": 578,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000863318.1",
"gene_hgnc_id": 24105,
"gene_symbol": "STAMBPL1",
"hgvs_c": "c.578G>A",
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