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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: 16-89794-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89794&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89794,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001077350.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "NM_001077350.3",
"protein_id": "NP_001070818.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": "ENST00000611875.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077350.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000611875.5",
"protein_id": "ENSP00000478273.1",
"transcript_support_level": 5,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1369,
"cdna_end": null,
"cdna_length": 3128,
"mane_select": "NM_001077350.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611875.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1195C>A",
"hgvs_p": "p.Arg399Arg",
"transcript": "ENST00000399953.7",
"protein_id": "ENSP00000382834.4",
"transcript_support_level": 1,
"aa_start": 399,
"aa_end": null,
"aa_length": 544,
"cds_start": 1195,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 2784,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399953.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.*855C>A",
"hgvs_p": null,
"transcript": "ENST00000621703.4",
"protein_id": "ENSP00000477801.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000621703.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "n.*855C>A",
"hgvs_p": null,
"transcript": "ENST00000621703.4",
"protein_id": "ENSP00000477801.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2812,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000621703.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1387C>A",
"hgvs_p": "p.Arg463Arg",
"transcript": "ENST00000882156.1",
"protein_id": "ENSP00000552215.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 608,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 2561,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882156.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1387C>A",
"hgvs_p": "p.Arg463Arg",
"transcript": "ENST00000882158.1",
"protein_id": "ENSP00000552217.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 608,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 2567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882158.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1387C>A",
"hgvs_p": "p.Arg463Arg",
"transcript": "ENST00000882173.1",
"protein_id": "ENSP00000552232.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 608,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 2837,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882173.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1387C>A",
"hgvs_p": "p.Arg463Arg",
"transcript": "ENST00000882176.1",
"protein_id": "ENSP00000552235.1",
"transcript_support_level": null,
"aa_start": 463,
"aa_end": null,
"aa_length": 608,
"cds_start": 1387,
"cds_end": null,
"cds_length": 1827,
"cdna_start": 1767,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882176.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1309C>A",
"hgvs_p": "p.Arg437Arg",
"transcript": "ENST00000882137.1",
"protein_id": "ENSP00000552196.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 582,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2216,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882137.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1309C>A",
"hgvs_p": "p.Arg437Arg",
"transcript": "ENST00000882150.1",
"protein_id": "ENSP00000552209.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 582,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1398,
"cdna_end": null,
"cdna_length": 2188,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882150.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1309C>A",
"hgvs_p": "p.Arg437Arg",
"transcript": "ENST00000882169.1",
"protein_id": "ENSP00000552228.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 582,
"cds_start": 1309,
"cds_end": null,
"cds_length": 1749,
"cdna_start": 1408,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882169.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1300C>A",
"hgvs_p": "p.Arg434Arg",
"transcript": "ENST00000882149.1",
"protein_id": "ENSP00000552208.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 579,
"cds_start": 1300,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1397,
"cdna_end": null,
"cdna_length": 2196,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882149.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1288C>A",
"hgvs_p": "p.Arg430Arg",
"transcript": "ENST00000882160.1",
"protein_id": "ENSP00000552219.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 575,
"cds_start": 1288,
"cds_end": null,
"cds_length": 1728,
"cdna_start": 1663,
"cdna_end": null,
"cdna_length": 2462,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882160.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000882131.1",
"protein_id": "ENSP00000552190.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1654,
"cdna_end": null,
"cdna_length": 3522,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882131.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000882133.1",
"protein_id": "ENSP00000552192.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1475,
"cdna_end": null,
"cdna_length": 2277,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882133.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000882134.1",
"protein_id": "ENSP00000552193.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1426,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882134.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000882135.1",
"protein_id": "ENSP00000552194.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1412,
"cdna_end": null,
"cdna_length": 2210,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882135.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000882136.1",
"protein_id": "ENSP00000552195.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1372,
"cdna_end": null,
"cdna_length": 2180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882136.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000882139.1",
"protein_id": "ENSP00000552198.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 2170,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882139.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000882141.1",
"protein_id": "ENSP00000552200.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 2195,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000882141.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NPRL3",
"gene_hgnc_id": 14124,
"hgvs_c": "c.1270C>A",
"hgvs_p": "p.Arg424Arg",
"transcript": "ENST00000882142.1",
"protein_id": "ENSP00000552201.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 569,
"cds_start": 1270,
"cds_end": null,
"cds_length": 1710,
"cdna_start": 1676,
"cdna_end": null,
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{
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],
"gene_symbol": "NPRL3",
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"dbsnp": "rs886037961",
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"allele_count_reference_population": 1,
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"computational_score_selected": -0.800000011920929,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.8,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.362,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
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"acmg_score": -5,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -5,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001077350.3",
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"effects": [
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],
"inheritance_mode": "AD",
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],
"clinvar_disease": " familial focal, with variable foci 3,Epilepsy",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Epilepsy, familial focal, with variable foci 3",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}