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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: 17-1754359-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=1754359&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SERPINF2",
"hgnc_id": 9075,
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_000934.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 324105,
"alphamissense_prediction": null,
"alphamissense_score": 0.069,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "17",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0024048686027526855,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_000934.4",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000453066.6",
"protein_coding": true,
"protein_id": "NP_000925.2",
"strand": true,
"transcript": "NM_000934.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000453066.6",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000934.4",
"protein_coding": true,
"protein_id": "ENSP00000402286.2",
"strand": true,
"transcript": "ENST00000453066.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000382061.5",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371493.4",
"strand": true,
"transcript": "ENST00000382061.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 545,
"aa_ref": "R",
"aa_start": 488,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2417,
"cdna_start": 1511,
"cds_end": null,
"cds_length": 1638,
"cds_start": 1463,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000883620.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1463G>A",
"hgvs_p": "p.Arg488Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553679.1",
"strand": true,
"transcript": "ENST00000883620.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1506,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883601.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553660.1",
"strand": true,
"transcript": "ENST00000883601.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1730,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000883615.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553674.1",
"strand": true,
"transcript": "ENST00000883615.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 531,
"aa_ref": "R",
"aa_start": 474,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1620,
"cds_end": null,
"cds_length": 1596,
"cds_start": 1421,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883646.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Arg474Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553705.1",
"strand": true,
"transcript": "ENST00000883646.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 526,
"aa_ref": "R",
"aa_start": 469,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1448,
"cds_end": null,
"cds_length": 1581,
"cds_start": 1406,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883634.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1406G>A",
"hgvs_p": "p.Arg469Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553693.1",
"strand": true,
"transcript": "ENST00000883634.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 507,
"aa_ref": "R",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2328,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 1524,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000883608.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Arg450Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553667.1",
"strand": true,
"transcript": "ENST00000883608.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2262,
"cdna_start": 1356,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001165920.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159392.1",
"strand": true,
"transcript": "NM_001165920.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000324015.7",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000321853.3",
"strand": true,
"transcript": "ENST00000324015.7",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883591.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553650.1",
"strand": true,
"transcript": "ENST00000883591.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1696,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000883592.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553651.1",
"strand": true,
"transcript": "ENST00000883592.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2556,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000883594.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553653.1",
"strand": true,
"transcript": "ENST00000883594.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2610,
"cdna_start": 1704,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000883595.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553654.1",
"strand": true,
"transcript": "ENST00000883595.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2636,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000883597.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553656.1",
"strand": true,
"transcript": "ENST00000883597.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883600.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553659.1",
"strand": true,
"transcript": "ENST00000883600.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2313,
"cdna_start": 1407,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000883602.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553661.1",
"strand": true,
"transcript": "ENST00000883602.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2608,
"cdna_start": 1702,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000883605.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553664.1",
"strand": true,
"transcript": "ENST00000883605.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2386,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000883607.1",
"gene_hgnc_id": 9075,
"gene_symbol": "SERPINF2",
"hgvs_c": "c.1301G>A",
"hgvs_p": "p.Arg434Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000553666.1",
"strand": true,
"transcript": "ENST00000883607.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 491,
"aa_ref": "R",
"aa_start": 434,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 1502,
"cds_end": null,
"cds_length": 1476,
"cds_start": 1301,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
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