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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: 16-89637957-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89637957&ref=G&alt=C&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": "DPEP1",
"hgnc_id": 3002,
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_004413.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 386155,
"alphamissense_prediction": null,
"alphamissense_score": 0.0922,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.72,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.002023369073867798,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001389466.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000690203.1",
"protein_coding": true,
"protein_id": "NP_001376395.1",
"strand": true,
"transcript": "NM_001389466.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1631,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000690203.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001389466.1",
"protein_coding": true,
"protein_id": "ENSP00000508584.1",
"strand": true,
"transcript": "ENST00000690203.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000261615.5",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000261615.4",
"strand": true,
"transcript": "ENST00000261615.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000393092.7",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376807.3",
"strand": true,
"transcript": "ENST00000393092.7",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1650,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001128141.3",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001121613.1",
"strand": true,
"transcript": "NM_001128141.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1583,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001389467.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376396.1",
"strand": true,
"transcript": "NM_001389467.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1726,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001389468.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376397.1",
"strand": true,
"transcript": "NM_001389468.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1588,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001389469.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001376398.1",
"strand": true,
"transcript": "NM_001389469.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1733,
"cdna_start": 1337,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004413.4",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004404.1",
"strand": true,
"transcript": "NM_004413.4",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1647,
"cdna_start": 1254,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000421184.5",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397313.1",
"strand": true,
"transcript": "ENST00000421184.5",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1745,
"cdna_start": 1351,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000876490.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546549.1",
"strand": true,
"transcript": "ENST00000876490.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876491.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546550.1",
"strand": true,
"transcript": "ENST00000876491.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876492.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546551.1",
"strand": true,
"transcript": "ENST00000876492.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1680,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000876493.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000546552.1",
"strand": true,
"transcript": "ENST00000876493.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2074,
"cdna_start": 1680,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000936229.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606288.1",
"strand": true,
"transcript": "ENST00000936229.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1695,
"cdna_start": 1299,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936233.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606292.1",
"strand": true,
"transcript": "ENST00000936233.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 411,
"aa_ref": "E",
"aa_start": 351,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1622,
"cdna_start": 1226,
"cds_end": null,
"cds_length": 1236,
"cds_start": 1051,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936234.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1051G>C",
"hgvs_p": "p.Glu351Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606293.1",
"strand": true,
"transcript": "ENST00000936234.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 409,
"aa_ref": "E",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1633,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936230.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1045G>C",
"hgvs_p": "p.Glu349Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606289.1",
"strand": true,
"transcript": "ENST00000936230.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 409,
"aa_ref": "E",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1742,
"cdna_start": 1324,
"cds_end": null,
"cds_length": 1230,
"cds_start": 1045,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000946841.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1045G>C",
"hgvs_p": "p.Glu349Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616900.1",
"strand": true,
"transcript": "ENST00000946841.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 400,
"aa_ref": "E",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1637,
"cdna_start": 1218,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936228.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
"hgvs_c": "c.1018G>C",
"hgvs_p": "p.Glu340Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606287.1",
"strand": true,
"transcript": "ENST00000936228.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 400,
"aa_ref": "E",
"aa_start": 340,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1203,
"cds_start": 1018,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936232.1",
"gene_hgnc_id": 3002,
"gene_symbol": "DPEP1",
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