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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: 16-89849-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89849&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NPRL3",
"hgnc_id": 14124,
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_001077350.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9529,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.39,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9261374473571777,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001077350.3",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000611875.5",
"protein_coding": true,
"protein_id": "NP_001070818.1",
"strand": false,
"transcript": "NM_001077350.3",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000611875.5",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001077350.3",
"protein_coding": true,
"protein_id": "ENSP00000478273.1",
"strand": false,
"transcript": "ENST00000611875.5",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 544,
"aa_ref": "Q",
"aa_start": 380,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 1385,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1140,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000399953.7",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1140G>T",
"hgvs_p": "p.Gln380His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382834.4",
"strand": false,
"transcript": "ENST00000399953.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000621703.4",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "n.*800G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477801.1",
"strand": false,
"transcript": "ENST00000621703.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2812,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000621703.4",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "n.*800G>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000477801.1",
"strand": false,
"transcript": "ENST00000621703.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 608,
"aa_ref": "Q",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882156.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1332G>T",
"hgvs_p": "p.Gln444His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552215.1",
"strand": false,
"transcript": "ENST00000882156.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 608,
"aa_ref": "Q",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882158.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1332G>T",
"hgvs_p": "p.Gln444His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552217.1",
"strand": false,
"transcript": "ENST00000882158.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 608,
"aa_ref": "Q",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": 1453,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1332,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882173.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1332G>T",
"hgvs_p": "p.Gln444His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552232.1",
"strand": false,
"transcript": "ENST00000882173.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 608,
"aa_ref": "Q",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 1712,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1332,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882176.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1332G>T",
"hgvs_p": "p.Gln444His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552235.1",
"strand": false,
"transcript": "ENST00000882176.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 582,
"aa_ref": "Q",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1254,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882137.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1254G>T",
"hgvs_p": "p.Gln418His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552196.1",
"strand": false,
"transcript": "ENST00000882137.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 582,
"aa_ref": "Q",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 1343,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1254,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882150.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1254G>T",
"hgvs_p": "p.Gln418His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552209.1",
"strand": false,
"transcript": "ENST00000882150.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 582,
"aa_ref": "Q",
"aa_start": 418,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1254,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882169.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1254G>T",
"hgvs_p": "p.Gln418His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552228.1",
"strand": false,
"transcript": "ENST00000882169.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 579,
"aa_ref": "Q",
"aa_start": 415,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 1342,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1245,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882149.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1245G>T",
"hgvs_p": "p.Gln415His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552208.1",
"strand": false,
"transcript": "ENST00000882149.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 575,
"aa_ref": "Q",
"aa_start": 411,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1233,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000882160.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1233G>T",
"hgvs_p": "p.Gln411His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552219.1",
"strand": false,
"transcript": "ENST00000882160.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 1599,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000882131.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552190.1",
"strand": false,
"transcript": "ENST00000882131.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882133.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552192.1",
"strand": false,
"transcript": "ENST00000882133.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1371,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882134.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552193.1",
"strand": false,
"transcript": "ENST00000882134.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1357,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882135.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552194.1",
"strand": false,
"transcript": "ENST00000882135.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882136.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552195.1",
"strand": false,
"transcript": "ENST00000882136.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 1313,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882139.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000552198.1",
"strand": false,
"transcript": "ENST00000882139.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 569,
"aa_ref": "Q",
"aa_start": 405,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1346,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1215,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882141.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1215G>T",
"hgvs_p": "p.Gln405His",
"intron_rank": null,
"intron_rank_end": null,
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