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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: 16-29798640-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=29798640&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong",
"PP5_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "KIF22",
"hgnc_id": 6391,
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_007317.3",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong,PP5_Moderate",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.8081,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.33,
"chr": "16",
"clinvar_classification": "Likely pathogenic",
"clinvar_disease": "Spondyloepimetaphyseal dysplasia with multiple dislocations,not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9665118455886841,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1998,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_007317.3",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000160827.9",
"protein_coding": true,
"protein_id": "NP_015556.1",
"strand": true,
"transcript": "NM_007317.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 665,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 451,
"cds_end": null,
"cds_length": 1998,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000160827.9",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007317.3",
"protein_coding": true,
"protein_id": "ENSP00000160827.5",
"strand": true,
"transcript": "ENST00000160827.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 679,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 461,
"cds_end": null,
"cds_length": 2040,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000569382.3",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456165.3",
"strand": true,
"transcript": "ENST00000569382.3",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 679,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2157,
"cdna_start": 484,
"cds_end": null,
"cds_length": 2040,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936369.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606428.1",
"strand": true,
"transcript": "ENST00000936369.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 672,
"aa_ref": "P",
"aa_start": 155,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 505,
"cds_end": null,
"cds_length": 2019,
"cds_start": 463,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936371.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.463C>T",
"hgvs_p": "p.Pro155Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606430.1",
"strand": true,
"transcript": "ENST00000936371.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 667,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2113,
"cdna_start": 473,
"cds_end": null,
"cds_length": 2004,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936373.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606432.1",
"strand": true,
"transcript": "ENST00000936373.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 666,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 475,
"cds_end": null,
"cds_length": 2001,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936374.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606433.1",
"strand": true,
"transcript": "ENST00000936374.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 663,
"aa_ref": "P",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1992,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936370.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606429.1",
"strand": true,
"transcript": "ENST00000936370.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 656,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2087,
"cdna_start": 484,
"cds_end": null,
"cds_length": 1971,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936372.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606431.1",
"strand": true,
"transcript": "ENST00000936372.1",
"transcript_support_level": null
},
{
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"aa_length": 649,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2044,
"cdna_start": 461,
"cds_end": null,
"cds_length": 1950,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000689660.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509285.1",
"strand": true,
"transcript": "ENST00000689660.1",
"transcript_support_level": null
},
{
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"aa_length": 645,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2015,
"cdna_start": 445,
"cds_end": null,
"cds_length": 1938,
"cds_start": 442,
"consequences": [
"missense_variant"
],
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"exon_rank": 4,
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"feature": "ENST00000689107.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509175.1",
"strand": true,
"transcript": "ENST00000689107.1",
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},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
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"feature": "ENST00000936380.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000606439.1",
"strand": true,
"transcript": "ENST00000936380.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000936378.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.364C>T",
"hgvs_p": "p.Pro122Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000606437.1",
"strand": true,
"transcript": "ENST00000936378.1",
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},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 14,
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"feature": "ENST00000936379.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000606438.1",
"strand": true,
"transcript": "ENST00000936379.1",
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},
{
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"consequences": [
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],
"exon_count": 13,
"exon_rank": 4,
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"feature": "ENST00000936377.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000606436.1",
"strand": true,
"transcript": "ENST00000936377.1",
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},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 500,
"cds_end": null,
"cds_length": 1794,
"cds_start": 238,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001256269.2",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243198.1",
"strand": true,
"transcript": "NM_001256269.2",
"transcript_support_level": null
},
{
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"consequences": [
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],
"exon_count": 14,
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"feature": "NM_001256270.1",
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"transcript": "NM_001256270.1",
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},
{
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],
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"feature": "ENST00000400751.9",
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"strand": true,
"transcript": "ENST00000400751.9",
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},
{
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"consequences": [
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],
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"feature": "ENST00000561482.6",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000454957.1",
"strand": true,
"transcript": "ENST00000561482.6",
"transcript_support_level": 2
},
{
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 524,
"cds_end": null,
"cds_length": 1794,
"cds_start": 238,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000690258.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.238C>T",
"hgvs_p": "p.Pro80Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509977.1",
"strand": true,
"transcript": "ENST00000690258.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 595,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1882,
"cdna_start": 462,
"cds_end": null,
"cds_length": 1788,
"cds_start": 442,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000936375.1",
"gene_hgnc_id": 6391,
"gene_symbol": "KIF22",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Pro148Ser",
"intron_rank": null,
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]
}