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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: 3-52741486-A-AT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=52741486&ref=A&alt=AT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 52741486,
"ref": "A",
"alt": "AT",
"effect": "frameshift_variant",
"transcript": "NM_003157.6",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.2017dupA",
"hgvs_p": "p.Ile673fs",
"transcript": "NM_003157.6",
"protein_id": "NP_003148.2",
"transcript_support_level": null,
"aa_start": 673,
"aa_end": null,
"aa_length": 841,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000233027.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003157.6"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.2017dupA",
"hgvs_p": "p.Ile673fs",
"transcript": "ENST00000233027.10",
"protein_id": "ENSP00000233027.5",
"transcript_support_level": 1,
"aa_start": 673,
"aa_end": null,
"aa_length": 841,
"cds_start": 2017,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003157.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233027.10"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1879dupA",
"hgvs_p": "p.Ile627fs",
"transcript": "ENST00000383721.8",
"protein_id": "ENSP00000373227.4",
"transcript_support_level": 1,
"aa_start": 627,
"aa_end": null,
"aa_length": 781,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000383721.8"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.2044dupA",
"hgvs_p": "p.Ile682fs",
"transcript": "ENST00000944576.1",
"protein_id": "ENSP00000614635.1",
"transcript_support_level": null,
"aa_start": 682,
"aa_end": null,
"aa_length": 850,
"cds_start": 2044,
"cds_end": null,
"cds_length": 2553,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944576.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1999dupA",
"hgvs_p": "p.Ile667fs",
"transcript": "ENST00000911341.1",
"protein_id": "ENSP00000581400.1",
"transcript_support_level": null,
"aa_start": 667,
"aa_end": null,
"aa_length": 835,
"cds_start": 1999,
"cds_end": null,
"cds_length": 2508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911341.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1996dupA",
"hgvs_p": "p.Ile666fs",
"transcript": "ENST00000944577.1",
"protein_id": "ENSP00000614636.1",
"transcript_support_level": null,
"aa_start": 666,
"aa_end": null,
"aa_length": 834,
"cds_start": 1996,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944577.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1918dupA",
"hgvs_p": "p.Ile640fs",
"transcript": "ENST00000911340.1",
"protein_id": "ENSP00000581399.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 808,
"cds_start": 1918,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911340.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1909dupA",
"hgvs_p": "p.Ile637fs",
"transcript": "ENST00000944571.1",
"protein_id": "ENSP00000614630.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 805,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944571.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1906dupA",
"hgvs_p": "p.Ile636fs",
"transcript": "ENST00000944573.1",
"protein_id": "ENSP00000614632.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 804,
"cds_start": 1906,
"cds_end": null,
"cds_length": 2415,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944573.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1879dupA",
"hgvs_p": "p.Ile627fs",
"transcript": "NM_001348412.2",
"protein_id": "NP_001335341.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 795,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348412.2"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1879dupA",
"hgvs_p": "p.Ile627fs",
"transcript": "ENST00000862198.1",
"protein_id": "ENSP00000532257.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 795,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862198.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1879dupA",
"hgvs_p": "p.Ile627fs",
"transcript": "ENST00000911342.1",
"protein_id": "ENSP00000581401.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 791,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2376,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911342.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1879dupA",
"hgvs_p": "p.Ile627fs",
"transcript": "NM_001348413.2",
"protein_id": "NP_001335342.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 781,
"cds_start": 1879,
"cds_end": null,
"cds_length": 2346,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348413.2"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1780dupA",
"hgvs_p": "p.Ile594fs",
"transcript": "ENST00000862201.1",
"protein_id": "ENSP00000532260.1",
"transcript_support_level": null,
"aa_start": 594,
"aa_end": null,
"aa_length": 762,
"cds_start": 1780,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862201.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1771dupA",
"hgvs_p": "p.Ile591fs",
"transcript": "NM_001348414.2",
"protein_id": "NP_001335343.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 759,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001348414.2"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1771dupA",
"hgvs_p": "p.Ile591fs",
"transcript": "ENST00000944572.1",
"protein_id": "ENSP00000614631.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 759,
"cds_start": 1771,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944572.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1750dupA",
"hgvs_p": "p.Ile584fs",
"transcript": "NM_001193533.3",
"protein_id": "NP_001180462.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 752,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193533.3"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1750dupA",
"hgvs_p": "p.Ile584fs",
"transcript": "ENST00000535191.5",
"protein_id": "ENSP00000437703.1",
"transcript_support_level": 2,
"aa_start": 584,
"aa_end": null,
"aa_length": 752,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535191.5"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1720dupA",
"hgvs_p": "p.Ile574fs",
"transcript": "ENST00000862202.1",
"protein_id": "ENSP00000532261.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 742,
"cds_start": 1720,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000862202.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1750dupA",
"hgvs_p": "p.Ile584fs",
"transcript": "ENST00000461689.5",
"protein_id": "ENSP00000419666.1",
"transcript_support_level": 5,
"aa_start": 584,
"aa_end": null,
"aa_length": 721,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2166,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000461689.5"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1627dupA",
"hgvs_p": "p.Ile543fs",
"transcript": "ENST00000944574.1",
"protein_id": "ENSP00000614633.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 711,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944574.1"
},
{
"aa_ref": "I",
"aa_alt": "N?",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NEK4",
"gene_hgnc_id": 11399,
"hgvs_c": "c.1381dupA",
"hgvs_p": "p.Ile461fs",
"transcript": "ENST00000944575.1",
"protein_id": "ENSP00000614634.1",
"transcript_support_level": null,
"aa_start": 461,
"aa_end": null,
"aa_length": 629,
"cds_start": 1381,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
"gene_symbol": "NEK4",
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"dbsnp": "rs770418305",
"frequency_reference_population": 0.000009368851,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
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"gnomad_genomes_af": 0.0000197132,
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"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": -0.782,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP5",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 1,
"criteria": [
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],
"verdict": "Uncertain_significance",
"transcript": "NM_003157.6",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "Ciliopathy",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Ciliopathy",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}