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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: 16-14446909-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=14446909&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 14446909,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_002582.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Lys615Glu",
"transcript": "NM_002582.4",
"protein_id": "NP_002573.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 639,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "ENST00000437198.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002582.4"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Lys615Glu",
"transcript": "ENST00000437198.7",
"protein_id": "ENSP00000387911.2",
"transcript_support_level": 1,
"aa_start": 615,
"aa_end": null,
"aa_length": 639,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1978,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": "NM_002582.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437198.7"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1999A>G",
"hgvs_p": "p.Lys667Glu",
"transcript": "ENST00000931608.1",
"protein_id": "ENSP00000601667.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 691,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 2167,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931608.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1918A>G",
"hgvs_p": "p.Lys640Glu",
"transcript": "ENST00000650990.1",
"protein_id": "ENSP00000498741.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 664,
"cds_start": 1918,
"cds_end": null,
"cds_length": 1995,
"cdna_start": 2001,
"cdna_end": null,
"cdna_length": 2884,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650990.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Lys615Glu",
"transcript": "ENST00000697474.1",
"protein_id": "ENSP00000513329.1",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 659,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1976,
"cdna_end": null,
"cdna_length": 3863,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000697474.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1840A>G",
"hgvs_p": "p.Lys614Glu",
"transcript": "ENST00000874419.1",
"protein_id": "ENSP00000544478.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 638,
"cds_start": 1840,
"cds_end": null,
"cds_length": 1917,
"cdna_start": 1968,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874419.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1831A>G",
"hgvs_p": "p.Lys611Glu",
"transcript": "ENST00000874418.1",
"protein_id": "ENSP00000544477.1",
"transcript_support_level": null,
"aa_start": 611,
"aa_end": null,
"aa_length": 635,
"cds_start": 1831,
"cds_end": null,
"cds_length": 1908,
"cdna_start": 1966,
"cdna_end": null,
"cdna_length": 3059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874418.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1822A>G",
"hgvs_p": "p.Lys608Glu",
"transcript": "ENST00000960024.1",
"protein_id": "ENSP00000630083.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 632,
"cds_start": 1822,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 1949,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960024.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1792A>G",
"hgvs_p": "p.Lys598Glu",
"transcript": "ENST00000874417.1",
"protein_id": "ENSP00000544476.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 622,
"cds_start": 1792,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 1938,
"cdna_end": null,
"cdna_length": 3028,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874417.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1786A>G",
"hgvs_p": "p.Lys596Glu",
"transcript": "ENST00000874421.1",
"protein_id": "ENSP00000544480.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 620,
"cds_start": 1786,
"cds_end": null,
"cds_length": 1863,
"cdna_start": 1869,
"cdna_end": null,
"cdna_length": 2962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874421.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1777A>G",
"hgvs_p": "p.Lys593Glu",
"transcript": "ENST00000960023.1",
"protein_id": "ENSP00000630082.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 617,
"cds_start": 1777,
"cds_end": null,
"cds_length": 1854,
"cdna_start": 1908,
"cdna_end": null,
"cdna_length": 3000,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960023.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1768A>G",
"hgvs_p": "p.Lys590Glu",
"transcript": "ENST00000651865.1",
"protein_id": "ENSP00000498567.1",
"transcript_support_level": null,
"aa_start": 590,
"aa_end": null,
"aa_length": 614,
"cds_start": 1768,
"cds_end": null,
"cds_length": 1845,
"cdna_start": 1903,
"cdna_end": null,
"cdna_length": 2997,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000651865.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1765A>G",
"hgvs_p": "p.Lys589Glu",
"transcript": "ENST00000874415.1",
"protein_id": "ENSP00000544474.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 613,
"cds_start": 1765,
"cds_end": null,
"cds_length": 1842,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 3022,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874415.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1762A>G",
"hgvs_p": "p.Lys588Glu",
"transcript": "ENST00000874420.1",
"protein_id": "ENSP00000544479.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 612,
"cds_start": 1762,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1891,
"cdna_end": null,
"cdna_length": 2982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874420.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1756A>G",
"hgvs_p": "p.Lys586Glu",
"transcript": "ENST00000874414.1",
"protein_id": "ENSP00000544473.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 610,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1922,
"cdna_end": null,
"cdna_length": 3015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874414.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1756A>G",
"hgvs_p": "p.Lys586Glu",
"transcript": "ENST00000874416.1",
"protein_id": "ENSP00000544475.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 610,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3005,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874416.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1756A>G",
"hgvs_p": "p.Lys586Glu",
"transcript": "ENST00000931610.1",
"protein_id": "ENSP00000601669.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 610,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1833,
"cdna_start": 1887,
"cdna_end": null,
"cdna_length": 2980,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931610.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Lys569Glu",
"transcript": "NM_001242992.2",
"protein_id": "NP_001229921.1",
"transcript_support_level": null,
"aa_start": 569,
"aa_end": null,
"aa_length": 593,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1840,
"cdna_end": null,
"cdna_length": 2933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242992.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1705A>G",
"hgvs_p": "p.Lys569Glu",
"transcript": "ENST00000420015.6",
"protein_id": "ENSP00000410525.2",
"transcript_support_level": 2,
"aa_start": 569,
"aa_end": null,
"aa_length": 593,
"cds_start": 1705,
"cds_end": null,
"cds_length": 1782,
"cdna_start": 1839,
"cdna_end": null,
"cdna_length": 2360,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000420015.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1693A>G",
"hgvs_p": "p.Lys565Glu",
"transcript": "ENST00000931609.1",
"protein_id": "ENSP00000601668.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 589,
"cds_start": 1693,
"cds_end": null,
"cds_length": 1770,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 2923,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931609.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1669A>G",
"hgvs_p": "p.Lys557Glu",
"transcript": "ENST00000652727.1",
"protein_id": "ENSP00000498650.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 581,
"cds_start": 1669,
"cds_end": null,
"cds_length": 1746,
"cdna_start": 1755,
"cdna_end": null,
"cdna_length": 2630,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652727.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PARN",
"gene_hgnc_id": 8609,
"hgvs_c": "c.1660A>G",
"hgvs_p": "p.Lys554Glu",
"transcript": "NM_001134477.3",
"protein_id": "NP_001127949.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 578,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1737,
"cdna_start": 1895,
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"dbsnp": "rs368440052",
"frequency_reference_population": 0.00006447373,
"hom_count_reference_population": 0,
"allele_count_reference_population": 104,
"gnomad_exomes_af": 0.0000294341,
"gnomad_genomes_af": 0.000400873,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 61,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04685506224632263,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.148,
"revel_prediction": "Benign",
"alphamissense_score": 0.128,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.978,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"verdict": "Benign",
"transcript": "NM_002582.4",
"gene_symbol": "PARN",
"hgnc_id": 8609,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1843A>G",
"hgvs_p": "p.Lys615Glu"
}
],
"clinvar_disease": " 4, Telomere-related, autosomal recessive 6,Dyskeratosis congenita,Inborn genetic diseases,PARN-related disorder,Pulmonary fibrosis and/or bone marrow failure,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 B:1",
"phenotype_combined": "not provided|Dyskeratosis congenita, autosomal recessive 6;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4|PARN-related disorder|Inborn genetic diseases",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}