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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: 19-18539666-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18539666&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PP3",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FKBP8",
"hgnc_id": 3724,
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"inheritance_mode": "AD",
"pathogenic_score": 1,
"score": -3,
"transcript": "NM_012181.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_score": -3,
"allele_count_reference_population": 12,
"alphamissense_prediction": null,
"alphamissense_score": 0.5396,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.14,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.7537968158721924,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_012181.5",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000608443.6",
"protein_coding": true,
"protein_id": "NP_036313.3",
"strand": false,
"transcript": "NM_012181.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1761,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000608443.6",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012181.5",
"protein_coding": true,
"protein_id": "ENSP00000476767.1",
"strand": false,
"transcript": "ENST00000608443.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1710,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1239,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000222308.8",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000222308.4",
"strand": false,
"transcript": "ENST00000222308.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 248,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1292,
"cdna_start": null,
"cds_end": null,
"cds_length": 748,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000544835.7",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.293-1893G>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441267.2",
"strand": false,
"transcript": "ENST00000544835.7",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 464,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1911,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1395,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959009.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629068.1",
"strand": false,
"transcript": "ENST00000959009.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 463,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1392,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959008.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629067.1",
"strand": false,
"transcript": "ENST00000959008.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 452,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 422,
"cds_end": null,
"cds_length": 1359,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923885.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593944.1",
"strand": false,
"transcript": "ENST00000923885.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 422,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1791,
"cdna_start": 464,
"cds_end": null,
"cds_length": 1269,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902309.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572368.1",
"strand": false,
"transcript": "ENST00000902309.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1794,
"cdna_start": 478,
"cds_end": null,
"cds_length": 1254,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902306.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572365.1",
"strand": false,
"transcript": "ENST00000902306.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 417,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1724,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1254,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923888.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593947.1",
"strand": false,
"transcript": "ENST00000923888.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 416,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1788,
"cdna_start": 478,
"cds_end": null,
"cds_length": 1251,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902307.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572366.1",
"strand": false,
"transcript": "ENST00000902307.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 468,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000597960.7",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471700.1",
"strand": false,
"transcript": "ENST00000597960.7",
"transcript_support_level": 5
},
{
"aa_alt": "L",
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"aa_length": 413,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1805,
"cdna_start": 504,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902303.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572362.1",
"strand": false,
"transcript": "ENST00000902303.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1883,
"cdna_start": 573,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000902315.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572374.1",
"strand": false,
"transcript": "ENST00000902315.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 483,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923877.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593936.1",
"strand": false,
"transcript": "ENST00000923877.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2247,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000923887.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000593946.1",
"strand": false,
"transcript": "ENST00000923887.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 413,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1845,
"cdna_start": 539,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959013.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000629072.1",
"strand": false,
"transcript": "ENST00000959013.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 398,
"cds_end": null,
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"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959014.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629073.1",
"strand": false,
"transcript": "ENST00000959014.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 413,
"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 1741,
"cdna_start": 440,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959015.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629074.1",
"strand": false,
"transcript": "ENST00000959015.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 413,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 435,
"cds_end": null,
"cds_length": 1242,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000959018.1",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629077.1",
"strand": false,
"transcript": "ENST00000959018.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 412,
"aa_ref": "R",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1758,
"cdna_start": 460,
"cds_end": null,
"cds_length": 1239,
"cds_start": 347,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001308373.2",
"gene_hgnc_id": 3724,
"gene_symbol": "FKBP8",
"hgvs_c": "c.347G>T",
"hgvs_p": "p.Arg116Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001295302.1",
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