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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: 2-44209318-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=44209318&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 44209318,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002706.6",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "NM_002706.6",
"protein_id": "NP_002697.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000282412.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002706.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000282412.9",
"protein_id": "ENSP00000282412.4",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002706.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000282412.9"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000378551.6",
"protein_id": "ENSP00000367813.2",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 387,
"cds_start": 955,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000378551.6"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000409432.7",
"protein_id": "ENSP00000387287.3",
"transcript_support_level": 1,
"aa_start": 319,
"aa_end": null,
"aa_length": 380,
"cds_start": 955,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409432.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.94C>T",
"hgvs_p": "p.Arg32Trp",
"transcript": "ENST00000345249.8",
"protein_id": "ENSP00000326089.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 192,
"cds_start": 94,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345249.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "n.1367C>T",
"hgvs_p": null,
"transcript": "ENST00000409486.6",
"protein_id": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000409486.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285542",
"gene_hgnc_id": null,
"hgvs_c": "n.955C>T",
"hgvs_p": null,
"transcript": "ENST00000649044.1",
"protein_id": "ENSP00000497083.1",
"transcript_support_level": null,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000649044.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000854777.1",
"protein_id": "ENSP00000524836.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 487,
"cds_start": 955,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854777.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000946340.1",
"protein_id": "ENSP00000616399.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 487,
"cds_start": 955,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946340.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000919024.1",
"protein_id": "ENSP00000589083.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 485,
"cds_start": 955,
"cds_end": null,
"cds_length": 1458,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919024.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000854776.1",
"protein_id": "ENSP00000524835.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854776.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000854778.1",
"protein_id": "ENSP00000524837.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854778.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000854779.1",
"protein_id": "ENSP00000524838.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854779.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000854780.1",
"protein_id": "ENSP00000524839.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854780.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000854781.1",
"protein_id": "ENSP00000524840.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854781.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000854782.1",
"protein_id": "ENSP00000524841.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854782.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000854783.1",
"protein_id": "ENSP00000524842.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854783.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000919023.1",
"protein_id": "ENSP00000589082.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919023.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "ENST00000919025.1",
"protein_id": "ENSP00000589084.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 479,
"cds_start": 955,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919025.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Trp",
"transcript": "ENST00000946341.1",
"protein_id": "ENSP00000616400.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 461,
"cds_start": 901,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946341.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "NM_177968.4",
"protein_id": "NP_808907.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 387,
"cds_start": 955,
"cds_end": null,
"cds_length": 1164,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_177968.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPM1B",
"gene_hgnc_id": 9276,
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp",
"transcript": "NM_001033557.3",
"protein_id": "NP_001028729.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 380,
"cds_start": 955,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
"gene_symbol": "PPM1B",
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"dbsnp": "rs757494045",
"frequency_reference_population": 0.000019213654,
"hom_count_reference_population": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6365185976028442,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.407,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6552,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 2.012,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_002706.6",
"gene_symbol": "PPM1B",
"hgnc_id": 9276,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.955C>T",
"hgvs_p": "p.Arg319Trp"
},
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000649044.1",
"gene_symbol": "ENSG00000285542",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.955C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}