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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: 17-68043234-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=68043234&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "KPNA2",
"hgnc_id": 6395,
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_002266.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 1136383,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.7,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.699999988079071,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002266.4",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000330459.8",
"protein_coding": true,
"protein_id": "NP_002257.1",
"strand": true,
"transcript": "NM_002266.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000330459.8",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002266.4",
"protein_coding": true,
"protein_id": "ENSP00000332455.3",
"strand": true,
"transcript": "ENST00000330459.8",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000537025.6",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000438483.2",
"strand": true,
"transcript": "ENST00000537025.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2693,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001320611.3",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001307540.1",
"strand": true,
"transcript": "NM_001320611.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 940,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000579754.2",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462331.2",
"strand": true,
"transcript": "ENST00000579754.2",
"transcript_support_level": 2
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 960,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000584026.6",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463602.2",
"strand": true,
"transcript": "ENST00000584026.6",
"transcript_support_level": 4
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2076,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000676594.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503445.1",
"strand": true,
"transcript": "ENST00000676594.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2950,
"cdna_start": 1903,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000677086.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504655.1",
"strand": true,
"transcript": "ENST00000677086.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1973,
"cdna_start": 926,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679078.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504685.1",
"strand": true,
"transcript": "ENST00000679078.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2163,
"cdna_start": 1119,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913637.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583696.1",
"strand": true,
"transcript": "ENST00000913637.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 529,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2037,
"cdna_start": 1001,
"cds_end": null,
"cds_length": 1590,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000913639.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583698.1",
"strand": true,
"transcript": "ENST00000913639.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 523,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1959,
"cdna_start": 930,
"cds_end": null,
"cds_length": 1572,
"cds_start": 801,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913636.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583695.1",
"strand": true,
"transcript": "ENST00000913636.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 511,
"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1029,
"cds_end": null,
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"cds_start": 801,
"consequences": [
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],
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"feature": "ENST00000676857.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503884.1",
"strand": true,
"transcript": "ENST00000676857.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 511,
"aa_ref": "V",
"aa_start": 249,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1923,
"cdna_start": 876,
"cds_end": null,
"cds_length": 1536,
"cds_start": 747,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913635.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.747A>G",
"hgvs_p": "p.Val249Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583694.1",
"strand": true,
"transcript": "ENST00000913635.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "V",
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"biotype": "protein_coding",
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"cdna_start": 1414,
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000964619.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.747A>G",
"hgvs_p": "p.Val249Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000634678.1",
"strand": true,
"transcript": "ENST00000964619.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 505,
"aa_ref": "V",
"aa_start": 243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1893,
"cdna_start": 858,
"cds_end": null,
"cds_length": 1518,
"cds_start": 729,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913641.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.729A>G",
"hgvs_p": "p.Val243Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583700.1",
"strand": true,
"transcript": "ENST00000913641.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 504,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 952,
"cds_end": null,
"cds_length": 1515,
"cds_start": 801,
"consequences": [
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],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000678388.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000503111.1",
"strand": true,
"transcript": "ENST00000678388.1",
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},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
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"consequences": [
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],
"exon_count": 11,
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"feature": "ENST00000913633.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
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"hgvs_p": "p.Val267Val",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000583692.1",
"strand": true,
"transcript": "ENST00000913633.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 930,
"cds_end": null,
"cds_length": 1440,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913640.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583699.1",
"strand": true,
"transcript": "ENST00000913640.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
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"aa_length": 468,
"aa_ref": "V",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1792,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1407,
"cds_start": 801,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913638.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.801A>G",
"hgvs_p": "p.Val267Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583697.1",
"strand": true,
"transcript": "ENST00000913638.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 441,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1714,
"cdna_start": null,
"cds_end": null,
"cds_length": 1326,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913634.1",
"gene_hgnc_id": 6395,
"gene_symbol": "KPNA2",
"hgvs_c": "c.666+235A>G",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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