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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: 17-17228041-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=17228041&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 17228041,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000285071.9",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "NM_144997.7",
"protein_id": "NP_659434.2",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 97,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "ENST00000285071.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "ENST00000285071.9",
"protein_id": "ENSP00000285071.4",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 97,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3667,
"mane_select": "NM_144997.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "ENST00000389169.9",
"protein_id": "ENSP00000373821.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 342,
"cds_start": 97,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 552,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000264187",
"gene_hgnc_id": null,
"hgvs_c": "n.97G>C",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "NM_001353229.2",
"protein_id": "NP_001340158.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "NM_001353230.2",
"protein_id": "NP_001340159.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 97,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 864,
"cdna_end": null,
"cdna_length": 3950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "NM_001353231.2",
"protein_id": "NP_001340160.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 97,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 3866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "NM_144606.7",
"protein_id": "NP_653207.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 342,
"cds_start": 97,
"cds_end": null,
"cds_length": 1029,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "ENST00000461699.1",
"protein_id": "ENSP00000463970.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 36,
"cds_start": 97,
"cds_end": null,
"cds_length": 112,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 243,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_011523714.4",
"protein_id": "XP_011522016.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 3721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_011523718.4",
"protein_id": "XP_011522020.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 492,
"cdna_end": null,
"cdna_length": 3632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_011523721.4",
"protein_id": "XP_011522023.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 3486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_017024305.3",
"protein_id": "XP_016879794.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 780,
"cdna_end": null,
"cdna_length": 3920,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435531.1",
"protein_id": "XP_047291487.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435532.1",
"protein_id": "XP_047291488.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 5390,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435533.1",
"protein_id": "XP_047291489.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1449,
"cdna_end": null,
"cdna_length": 4589,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435534.1",
"protein_id": "XP_047291490.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1325,
"cdna_end": null,
"cdna_length": 4465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435539.1",
"protein_id": "XP_047291495.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 597,
"cds_start": 97,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 439,
"cdna_end": null,
"cdna_length": 3579,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_017024308.2",
"protein_id": "XP_016879797.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 97,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 988,
"cdna_end": null,
"cdna_length": 4074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435535.1",
"protein_id": "XP_047291491.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 97,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 789,
"cdna_end": null,
"cdna_length": 3875,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435536.1",
"protein_id": "XP_047291492.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 97,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 3593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435537.1",
"protein_id": "XP_047291493.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 579,
"cds_start": 97,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 2250,
"cdna_end": null,
"cdna_length": 5336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FLCN",
"gene_hgnc_id": 27310,
"hgvs_c": "c.97G>C",
"hgvs_p": "p.Asp33His",
"transcript": "XM_047435538.1",
"protein_id": "XP_047291494.1",
"transcript_support_level": null,
"aa_start": 33,
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}
],
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"computational_score_selected": 0.233735591173172,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Likely_benign",
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{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Moderate",
"BP6",
"BS2_Supporting"
],
"verdict": "Likely_benign",
"transcript": "ENST00000285071.9",
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"effects": [
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"inheritance_mode": "AD",
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{
"score": -1,
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"criteria": [
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"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000427497.3",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.97G>C",
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}
],
"clinvar_disease": "Birt-Hogg-Dube syndrome,Hereditary cancer-predisposing syndrome,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 B:1",
"phenotype_combined": "not provided|Hereditary cancer-predisposing syndrome|Birt-Hogg-Dube syndrome",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}