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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: 17-17219060-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17219060&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17219060,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001353229.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "NM_144997.7",
"protein_id": "NP_659434.2",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000285071.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144997.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000285071.9",
"protein_id": "ENSP00000285071.4",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144997.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285071.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264187",
"gene_hgnc_id": null,
"hgvs_c": "n.149-6C>T",
"hgvs_p": null,
"transcript": "ENST00000427497.3",
"protein_id": "ENSP00000394249.3",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427497.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1126C>T",
"hgvs_p": "p.Arg376Trp",
"transcript": "ENST00000962729.1",
"protein_id": "ENSP00000632788.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 614,
"cds_start": 1126,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962729.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Trp",
"transcript": "NM_001353229.2",
"protein_id": "NP_001340158.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 597,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353229.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Trp",
"transcript": "ENST00000962736.1",
"protein_id": "ENSP00000632795.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 597,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962736.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Trp",
"transcript": "ENST00000962742.1",
"protein_id": "ENSP00000632801.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 597,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962742.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1075C>T",
"hgvs_p": "p.Arg359Trp",
"transcript": "ENST00000962744.1",
"protein_id": "ENSP00000632803.1",
"transcript_support_level": null,
"aa_start": 359,
"aa_end": null,
"aa_length": 597,
"cds_start": 1075,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962744.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1072C>T",
"hgvs_p": "p.Arg358Trp",
"transcript": "ENST00000962740.1",
"protein_id": "ENSP00000632799.1",
"transcript_support_level": null,
"aa_start": 358,
"aa_end": null,
"aa_length": 596,
"cds_start": 1072,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962740.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "NM_001353230.2",
"protein_id": "NP_001340159.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353230.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "NM_001353231.2",
"protein_id": "NP_001340160.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353231.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000888043.1",
"protein_id": "ENSP00000558102.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888043.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000888044.1",
"protein_id": "ENSP00000558103.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888044.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000888045.1",
"protein_id": "ENSP00000558104.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888045.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000918780.1",
"protein_id": "ENSP00000588839.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918780.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000918781.1",
"protein_id": "ENSP00000588840.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918781.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000962727.1",
"protein_id": "ENSP00000632786.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962727.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000962728.1",
"protein_id": "ENSP00000632787.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962728.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000962731.1",
"protein_id": "ENSP00000632790.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962731.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000962732.1",
"protein_id": "ENSP00000632791.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962732.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000962737.1",
"protein_id": "ENSP00000632796.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962737.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.1021C>T",
"hgvs_p": "p.Arg341Trp",
"transcript": "ENST00000962738.1",
"protein_id": "ENSP00000632797.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 579,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1740,
"cdna_start": null,
"cdna_end": null,
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{
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],
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"hom_count_reference_population": 0,
"allele_count_reference_population": 54,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7881094217300415,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.523,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1007,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.851,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BP6,BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 5,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001353229.2",
"gene_symbol": "FLCN",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Arg359Trp"
},
{
"score": 0,
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"pathogenic_score": 1,
"criteria": [
"PP3",
"BP6"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427497.3",
"gene_symbol": "ENSG00000264187",
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"effects": [
"splice_region_variant",
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-6C>T",
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}
],
"clinvar_disease": "Birt-Hogg-Dube syndrome,Birt-Hogg-Dube syndrome 1,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:3",
"phenotype_combined": "Hereditary cancer-predisposing syndrome|Birt-Hogg-Dube syndrome|not provided|Birt-Hogg-Dube syndrome 1",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}