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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: 16-88756-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=88756&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NPRL3",
"hgnc_id": 14124,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001077350.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 3380,
"alphamissense_prediction": null,
"alphamissense_score": 0.0706,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"chr": "16",
"clinvar_classification": "Benign/Likely benign",
"clinvar_disease": " familial focal, with variable foci 3,Epilepsy,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004239529371261597,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001077350.3",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"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": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3128,
"cdna_start": 1585,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000611875.5",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"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": "T",
"aa_end": null,
"aa_length": 544,
"aa_ref": "A",
"aa_start": 471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2784,
"cdna_start": 1656,
"cds_end": null,
"cds_length": 1635,
"cds_start": 1411,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000399953.7",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1411G>A",
"hgvs_p": "p.Ala471Thr",
"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": 10,
"exon_rank_end": null,
"feature": "ENST00000621703.4",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "n.*1071G>A",
"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": 10,
"exon_rank_end": null,
"feature": "ENST00000621703.4",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "n.*1071G>A",
"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": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2561,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882156.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Ala535Thr",
"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": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2567,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882158.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Ala535Thr",
"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": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000882173.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Ala535Thr",
"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": "T",
"aa_end": null,
"aa_length": 608,
"aa_ref": "A",
"aa_start": 535,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3097,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1603,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882176.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1603G>A",
"hgvs_p": "p.Ala535Thr",
"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": "T",
"aa_end": null,
"aa_length": 582,
"aa_ref": "A",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2216,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000882137.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Ala509Thr",
"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": "T",
"aa_end": null,
"aa_length": 582,
"aa_ref": "A",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2188,
"cdna_start": 1614,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000882150.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Ala509Thr",
"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": "T",
"aa_end": null,
"aa_length": 582,
"aa_ref": "A",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2746,
"cdna_start": 1624,
"cds_end": null,
"cds_length": 1749,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000882169.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1525G>A",
"hgvs_p": "p.Ala509Thr",
"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": "T",
"aa_end": null,
"aa_length": 579,
"aa_ref": "A",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2196,
"cdna_start": 1613,
"cds_end": null,
"cds_length": 1740,
"cds_start": 1516,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000882149.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1516G>A",
"hgvs_p": "p.Ala506Thr",
"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": "T",
"aa_end": null,
"aa_length": 575,
"aa_ref": "A",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2462,
"cdna_start": 1879,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882160.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1504G>A",
"hgvs_p": "p.Ala502Thr",
"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": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000882131.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"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": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882133.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"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": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2234,
"cdna_start": 1642,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882134.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"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": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2210,
"cdna_start": 1628,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882135.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"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": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2180,
"cdna_start": 1588,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882136.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"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": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2170,
"cdna_start": 1584,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882139.1",
"gene_hgnc_id": 14124,
"gene_symbol": "NPRL3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Ala496Thr",
"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": "T",
"aa_end": null,
"aa_length": 569,
"aa_ref": "A",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2195,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000882141.1",
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}