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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: 2-73862254-CGA-GGT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=73862254&ref=CGA&alt=GGT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "STAMBP",
"hgnc_id": 16950,
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_006463.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GGT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6746,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_213622.4",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000394070.7",
"protein_coding": true,
"protein_id": "NP_998787.1",
"strand": true,
"transcript": "NM_213622.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6746,
"cdna_start": 1832,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394070.7",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_213622.4",
"protein_coding": true,
"protein_id": "ENSP00000377633.2",
"strand": true,
"transcript": "ENST00000394070.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6370,
"cdna_start": 1472,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000394073.6",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377636.1",
"strand": true,
"transcript": "ENST00000394073.6",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 435,
"aa_ref": "R",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6403,
"cdna_start": 1505,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1303,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683877.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1303_1305delCGAinsGGT",
"hgvs_p": "p.Arg435Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507446.1",
"strand": true,
"transcript": "ENST00000683877.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6338,
"cdna_start": 1424,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353967.2",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340896.1",
"strand": true,
"transcript": "NM_001353967.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6306,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001353968.2",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340897.1",
"strand": true,
"transcript": "NM_001353968.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1673,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001438900.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425829.1",
"strand": true,
"transcript": "NM_001438900.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006463.6",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006454.1",
"strand": true,
"transcript": "NM_006463.6",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6232,
"cdna_start": 1318,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_201647.4",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_964010.1",
"strand": true,
"transcript": "NM_201647.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6277,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000339566.7",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000344742.3",
"strand": true,
"transcript": "ENST00000339566.7",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1668,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409707.6",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386548.1",
"strand": true,
"transcript": "ENST00000409707.6",
"transcript_support_level": 5
},
{
"aa_alt": "WL",
"aa_end": null,
"aa_length": 424,
"aa_ref": "SM",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1916,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1262,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682157.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1262_1264delCGAinsGGT",
"hgvs_p": "p.SerMet421TrpLeu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507848.1",
"strand": true,
"transcript": "ENST00000682157.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6261,
"cdna_start": 1363,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682351.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506833.1",
"strand": true,
"transcript": "ENST00000682351.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6433,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000682558.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507014.1",
"strand": true,
"transcript": "ENST00000682558.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8034,
"cdna_start": 3136,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000683818.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507658.1",
"strand": true,
"transcript": "ENST00000683818.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6316,
"cdna_start": 1418,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000684585.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507054.1",
"strand": true,
"transcript": "ENST00000684585.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1732,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879042.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549101.1",
"strand": true,
"transcript": "ENST00000879042.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2149,
"cdna_start": 1527,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000879044.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549103.1",
"strand": true,
"transcript": "ENST00000879044.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2212,
"cdna_start": 1582,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933900.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603959.1",
"strand": true,
"transcript": "ENST00000933900.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3657,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933901.1",
"gene_hgnc_id": 16950,
"gene_symbol": "STAMBP",
"hgvs_c": "c.1270_1272delCGAinsGGT",
"hgvs_p": "p.Arg424Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603960.1",
"strand": true,
"transcript": "ENST00000933901.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 424,
"aa_ref": "R",
"aa_start": 424,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2165,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1270,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933902.1",
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}