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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: 11-3683340-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=3683340&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Strong",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NUP98",
"hgnc_id": 8068,
"hgvs_c": "c.4871G>A",
"hgvs_p": "p.Arg1624His",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001365125.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_score": -8,
"allele_count_reference_population": 69,
"alphamissense_prediction": null,
"alphamissense_score": 0.0679,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"chr": "11",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05567145347595215,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1800,
"aa_ref": "R",
"aa_start": 1593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6726,
"cdna_start": 4961,
"cds_end": null,
"cds_length": 5403,
"cds_start": 4778,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_016320.5",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4778G>A",
"hgvs_p": "p.Arg1593His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000324932.12",
"protein_coding": true,
"protein_id": "NP_057404.2",
"strand": false,
"transcript": "NM_016320.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1800,
"aa_ref": "R",
"aa_start": 1593,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6726,
"cdna_start": 4961,
"cds_end": null,
"cds_length": 5403,
"cds_start": 4778,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000324932.12",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4778G>A",
"hgvs_p": "p.Arg1593His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016320.5",
"protein_coding": true,
"protein_id": "ENSP00000316032.7",
"strand": false,
"transcript": "ENST00000324932.12",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 752,
"aa_ref": "R",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2541,
"cdna_start": 1635,
"cds_end": null,
"cds_length": 2259,
"cds_start": 1634,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000429801.5",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.1634G>A",
"hgvs_p": "p.Arg545His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413146.1",
"strand": false,
"transcript": "ENST00000429801.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1848,
"aa_ref": "R",
"aa_start": 1641,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6884,
"cdna_start": 5105,
"cds_end": null,
"cds_length": 5547,
"cds_start": 4922,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000915300.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4922G>A",
"hgvs_p": "p.Arg1641His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585359.1",
"strand": false,
"transcript": "ENST00000915300.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1831,
"aa_ref": "R",
"aa_start": 1624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6819,
"cdna_start": 5054,
"cds_end": null,
"cds_length": 5496,
"cds_start": 4871,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_001365125.2",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4871G>A",
"hgvs_p": "p.Arg1624His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352054.1",
"strand": false,
"transcript": "NM_001365125.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1831,
"aa_ref": "R",
"aa_start": 1624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6830,
"cdna_start": 5056,
"cds_end": null,
"cds_length": 5496,
"cds_start": 4871,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000915302.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4871G>A",
"hgvs_p": "p.Arg1624His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585361.1",
"strand": false,
"transcript": "ENST00000915302.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1822,
"aa_ref": "R",
"aa_start": 1615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6790,
"cdna_start": 5025,
"cds_end": null,
"cds_length": 5469,
"cds_start": 4844,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000915311.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4844G>A",
"hgvs_p": "p.Arg1615His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585370.1",
"strand": false,
"transcript": "ENST00000915311.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1817,
"aa_ref": "R",
"aa_start": 1610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6777,
"cdna_start": 5012,
"cds_end": null,
"cds_length": 5454,
"cds_start": 4829,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001365126.2",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4829G>A",
"hgvs_p": "p.Arg1610His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352055.1",
"strand": false,
"transcript": "NM_001365126.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1817,
"aa_ref": "R",
"aa_start": 1610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7023,
"cdna_start": 5250,
"cds_end": null,
"cds_length": 5454,
"cds_start": 4829,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000359171.8",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4829G>A",
"hgvs_p": "p.Arg1610His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000352091.5",
"strand": false,
"transcript": "ENST00000359171.8",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1817,
"aa_ref": "R",
"aa_start": 1610,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6893,
"cdna_start": 5129,
"cds_end": null,
"cds_length": 5454,
"cds_start": 4829,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000915310.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4829G>A",
"hgvs_p": "p.Arg1610His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585369.1",
"strand": false,
"transcript": "ENST00000915310.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1815,
"aa_ref": "R",
"aa_start": 1608,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5909,
"cdna_start": 5000,
"cds_end": null,
"cds_length": 5448,
"cds_start": 4823,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000943238.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4823G>A",
"hgvs_p": "p.Arg1608His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613297.1",
"strand": false,
"transcript": "ENST00000943238.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1808,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6761,
"cdna_start": 4987,
"cds_end": null,
"cds_length": 5427,
"cds_start": 4802,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915303.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4802G>A",
"hgvs_p": "p.Arg1601His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585362.1",
"strand": false,
"transcript": "ENST00000915303.1",
"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": 5971,
"cdna_start": 5064,
"cds_end": null,
"cds_length": 5403,
"cds_start": 4778,
"consequences": [
"missense_variant"
],
"exon_count": 34,
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"exon_rank_end": null,
"feature": "ENST00000851290.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4778G>A",
"hgvs_p": "p.Arg1593His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521349.1",
"strand": false,
"transcript": "ENST00000851290.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1800,
"aa_ref": "R",
"aa_start": 1593,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6838,
"cdna_start": 5073,
"cds_end": null,
"cds_length": 5403,
"cds_start": 4778,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000915312.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4778G>A",
"hgvs_p": "p.Arg1593His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585371.1",
"strand": false,
"transcript": "ENST00000915312.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1800,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5978,
"cdna_start": 5072,
"cds_end": null,
"cds_length": 5403,
"cds_start": 4778,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000915314.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4778G>A",
"hgvs_p": "p.Arg1593His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585373.1",
"strand": false,
"transcript": "ENST00000915314.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1792,
"aa_ref": "R",
"aa_start": 1585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6702,
"cdna_start": 4937,
"cds_end": null,
"cds_length": 5379,
"cds_start": 4754,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001365127.2",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4754G>A",
"hgvs_p": "p.Arg1585His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352056.1",
"strand": false,
"transcript": "NM_001365127.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1792,
"aa_ref": "R",
"aa_start": 1585,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6691,
"cdna_start": 4937,
"cds_end": null,
"cds_length": 5379,
"cds_start": 4754,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000527104.6",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4754G>A",
"hgvs_p": "p.Arg1585His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436226.2",
"strand": false,
"transcript": "ENST00000527104.6",
"transcript_support_level": 3
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6641,
"cdna_start": 4887,
"cds_end": null,
"cds_length": 5376,
"cds_start": 4751,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000700597.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4751G>A",
"hgvs_p": "p.Arg1584His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000515087.1",
"strand": false,
"transcript": "ENST00000700597.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 6679,
"cdna_start": 4916,
"cds_end": null,
"cds_length": 5355,
"cds_start": 4730,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000915306.1",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4730G>A",
"hgvs_p": "p.Arg1577His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585365.1",
"strand": false,
"transcript": "ENST00000915306.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 1783,
"aa_ref": "R",
"aa_start": 1576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6675,
"cdna_start": 4910,
"cds_end": null,
"cds_length": 5352,
"cds_start": 4727,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "NM_001365128.2",
"gene_hgnc_id": 8068,
"gene_symbol": "NUP98",
"hgvs_c": "c.4727G>A",
"hgvs_p": "p.Arg1576His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001352057.1",
"strand": false,
"transcript": "NM_001365128.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1783,
"aa_ref": "R",
"aa_start": 1576,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6658,
"cdna_start": 4904,
"cds_end": null,
"cds_length": 5352,
"cds_start": 4727,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000700598.1",
"gene_hgnc_id": 8068,
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