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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: 17-17221580-A-TCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17221580&ref=A&alt=TCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17221580,
"ref": "A",
"alt": "TCT",
"effect": "frameshift_variant,synonymous_variant",
"transcript": "NM_001353229.2",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "NM_144997.7",
"protein_id": "NP_659434.2",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "ENST00000285071.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144997.7"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000285071.9",
"protein_id": "ENSP00000285071.4",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1312,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "NM_144997.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000285071.9"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000389169.9",
"protein_id": "ENSP00000373821.5",
"transcript_support_level": 1,
"aa_start": 276,
"aa_end": null,
"aa_length": 342,
"cds_start": 828,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389169.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"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.149-2526delTinsAGA",
"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": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000427497.3"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.933delTinsAGA",
"hgvs_p": "p.Ala312fs",
"transcript": "ENST00000962729.1",
"protein_id": "ENSP00000632788.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 614,
"cds_start": 933,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1432,
"cdna_end": null,
"cdna_length": 3790,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962729.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "NM_001353229.2",
"protein_id": "NP_001340158.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353229.2"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "ENST00000962736.1",
"protein_id": "ENSP00000632795.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1362,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962736.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "ENST00000962742.1",
"protein_id": "ENSP00000632801.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1431,
"cdna_end": null,
"cdna_length": 3789,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962742.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.882delTinsAGA",
"hgvs_p": "p.Ala295fs",
"transcript": "ENST00000962744.1",
"protein_id": "ENSP00000632803.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 597,
"cds_start": 882,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 3822,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962744.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.879delTinsAGA",
"hgvs_p": "p.Ala294fs",
"transcript": "ENST00000962740.1",
"protein_id": "ENSP00000632799.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 596,
"cds_start": 879,
"cds_end": null,
"cds_length": 1791,
"cdna_start": 1359,
"cdna_end": null,
"cdna_length": 3709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962740.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "NM_001353230.2",
"protein_id": "NP_001340159.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1595,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353230.2"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "NM_001353231.2",
"protein_id": "NP_001340160.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1511,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353231.2"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000888043.1",
"protein_id": "ENSP00000558102.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 3321,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888043.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000888044.1",
"protein_id": "ENSP00000558103.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1395,
"cdna_end": null,
"cdna_length": 3192,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888044.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000888045.1",
"protein_id": "ENSP00000558104.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2856,
"cdna_end": null,
"cdna_length": 3824,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888045.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000918780.1",
"protein_id": "ENSP00000588839.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1216,
"cdna_end": null,
"cdna_length": 3577,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918780.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000918781.1",
"protein_id": "ENSP00000588840.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1295,
"cdna_end": null,
"cdna_length": 3656,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000918781.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000962727.1",
"protein_id": "ENSP00000632786.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1111,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962727.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000962728.1",
"protein_id": "ENSP00000632787.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1237,
"cdna_end": null,
"cdna_length": 3598,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962728.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000962731.1",
"protein_id": "ENSP00000632790.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1983,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962731.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.828delTinsAGA",
"hgvs_p": "p.Ala277fs",
"transcript": "ENST00000962732.1",
"protein_id": "ENSP00000632791.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 579,
"cds_start": 828,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1385,
"cdna_end": null,
"cdna_length": 3737,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962732.1"
},
{
"aa_ref": "G",
"aa_alt": "G?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"synonymous_variant"
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{
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{
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],
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],
"gene_symbol": "FLCN",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -1.116,
"phylop100way_prediction": "Benign",
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"dbscsnv_ada_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001353229.2",
"gene_symbol": "FLCN",
"hgnc_id": 27310,
"effects": [
"frameshift_variant",
"synonymous_variant"
],
"inheritance_mode": "AD",
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"hgvs_p": "p.Ala295fs"
},
{
"score": 4,
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"criteria": [
"PM2",
"PP5_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000427497.3",
"gene_symbol": "ENSG00000264187",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.149-2526delTinsAGA",
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}
],
"clinvar_disease": "Birt-Hogg-Dube syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Birt-Hogg-Dube syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}