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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: 17-41817149-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=41817149&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS3",
"PP3_Moderate",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FKBP10",
"hgnc_id": 18169,
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 14,
"score": 14,
"transcript": "NM_021939.4",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS3,PP3_Moderate,PP5_Very_Strong",
"acmg_score": 14,
"allele_count_reference_population": 15,
"alphamissense_prediction": null,
"alphamissense_score": 0.9913,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.32,
"chr": "17",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_disease": "Bruck syndrome 1,Osteogenesis imperfecta,Osteogenesis imperfecta type 11,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2 LP:2",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9341535568237305,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 582,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1749,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_021939.4",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000321562.9",
"protein_coding": true,
"protein_id": "NP_068758.3",
"strand": true,
"transcript": "NM_021939.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 582,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2585,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1749,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000321562.9",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021939.4",
"protein_coding": true,
"protein_id": "ENSP00000317232.4",
"strand": true,
"transcript": "ENST00000321562.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 689,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2946,
"cdna_start": 408,
"cds_end": null,
"cds_length": 2070,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914601.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584660.1",
"strand": true,
"transcript": "ENST00000914601.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 662,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 397,
"cds_end": null,
"cds_length": 1989,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864398.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534457.1",
"strand": true,
"transcript": "ENST00000864398.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 647,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2800,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1944,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864399.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534458.1",
"strand": true,
"transcript": "ENST00000864399.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 628,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2723,
"cdna_start": 368,
"cds_end": null,
"cds_length": 1887,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864401.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534460.1",
"strand": true,
"transcript": "ENST00000864401.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 624,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2720,
"cdna_start": 388,
"cds_end": null,
"cds_length": 1875,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864400.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534459.1",
"strand": true,
"transcript": "ENST00000864400.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 620,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2749,
"cdna_start": 416,
"cds_end": null,
"cds_length": 1863,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914596.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584655.1",
"strand": true,
"transcript": "ENST00000914596.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 601,
"aa_ref": "E",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2864,
"cdna_start": 582,
"cds_end": null,
"cds_length": 1806,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864393.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534452.1",
"strand": true,
"transcript": "ENST00000864393.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 580,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 668,
"cds_end": null,
"cds_length": 1743,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000864392.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534451.1",
"strand": true,
"transcript": "ENST00000864392.1",
"transcript_support_level": null
},
{
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"aa_length": 580,
"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 413,
"cds_end": null,
"cds_length": 1743,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 10,
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"exon_rank_end": null,
"feature": "ENST00000864397.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534456.1",
"strand": true,
"transcript": "ENST00000864397.1",
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},
{
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"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 467,
"cds_end": null,
"cds_length": 1689,
"cds_start": 337,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000864394.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000534453.1",
"strand": true,
"transcript": "ENST00000864394.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000914595.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
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"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584654.1",
"strand": true,
"transcript": "ENST00000914595.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
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"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 394,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 10,
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"feature": "ENST00000914605.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000584664.1",
"strand": true,
"transcript": "ENST00000914605.1",
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},
{
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"cdna_end": null,
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"cdna_start": 418,
"cds_end": null,
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"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914594.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584653.1",
"strand": true,
"transcript": "ENST00000914594.1",
"transcript_support_level": null
},
{
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"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 404,
"cds_end": null,
"cds_length": 1470,
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"consequences": [
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],
"exon_count": 9,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914603.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000584662.1",
"strand": true,
"transcript": "ENST00000914603.1",
"transcript_support_level": null
},
{
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"aa_ref": "E",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 418,
"cds_end": null,
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"consequences": [
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],
"exon_count": 9,
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"feature": "ENST00000914597.1",
"gene_hgnc_id": 18169,
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"protein_id": "ENSP00000584656.1",
"strand": true,
"transcript": "ENST00000914597.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000706683.1",
"gene_hgnc_id": 18169,
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"protein_coding": true,
"protein_id": "ENSP00000516497.1",
"strand": true,
"transcript": "ENST00000706683.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000914592.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000584651.1",
"strand": true,
"transcript": "ENST00000914592.1",
"transcript_support_level": null
},
{
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"aa_length": 467,
"aa_ref": "E",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2286,
"cdna_start": 418,
"cds_end": null,
"cds_length": 1404,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914599.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584658.1",
"strand": true,
"transcript": "ENST00000914599.1",
"transcript_support_level": null
},
{
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"aa_ref": "E",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": 405,
"cds_end": null,
"cds_length": 1350,
"cds_start": 337,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000914604.1",
"gene_hgnc_id": 18169,
"gene_symbol": "FKBP10",
"hgvs_c": "c.337G>A",
"hgvs_p": "p.Glu113Lys",
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