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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: 6-163417980-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=163417980&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "QKI",
"hgnc_id": 21100,
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_006775.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.69,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6899999976158142,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9384,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006775.3",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361752.8",
"protein_coding": true,
"protein_id": "NP_006766.1",
"strand": true,
"transcript": "NM_006775.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 341,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9384,
"cdna_start": null,
"cds_end": null,
"cds_length": 1026,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361752.8",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006775.3",
"protein_coding": true,
"protein_id": "ENSP00000355094.3",
"strand": true,
"transcript": "ENST00000361752.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 333,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1063,
"cdna_start": null,
"cds_end": null,
"cds_length": 1002,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361195.6",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354867.2",
"strand": true,
"transcript": "ENST00000361195.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6964,
"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000275262.11",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000275262.7",
"strand": true,
"transcript": "ENST00000275262.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 319,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7911,
"cdna_start": null,
"cds_end": null,
"cds_length": 960,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000392127.6",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000375973.2",
"strand": true,
"transcript": "ENST00000392127.6",
"transcript_support_level": 1
},
{
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"aa_length": 319,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5685,
"cdna_start": null,
"cds_end": null,
"cds_length": 960,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000453779.6",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408775.2",
"strand": true,
"transcript": "ENST00000453779.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 317,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 954,
"cdna_start": null,
"cds_end": null,
"cds_length": 954,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000424802.7",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408382.3",
"strand": true,
"transcript": "ENST00000424802.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
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"aa_length": 369,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": null,
"cds_end": null,
"cds_length": 1110,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946874.1",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000616933.1",
"strand": true,
"transcript": "ENST00000946874.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
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"cds_start": null,
"consequences": [
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],
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"feature": "ENST00000873379.1",
"gene_hgnc_id": 21100,
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"hgvs_c": "c.142+2645T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543438.1",
"strand": true,
"transcript": "ENST00000873379.1",
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},
{
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"biotype": "protein_coding",
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"consequences": [
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],
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"feature": "ENST00000930428.1",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000600487.1",
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},
{
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"consequences": [
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],
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"feature": "ENST00000930427.1",
"gene_hgnc_id": 21100,
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},
{
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"feature": "NM_001301085.2",
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},
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},
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"consequences": [
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],
"exon_count": 8,
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"feature": "ENST00000946872.1",
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},
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],
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"feature": "NM_206854.3",
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"protein_coding": true,
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"transcript": "NM_206854.3",
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},
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],
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"feature": "NM_206853.3",
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"protein_coding": true,
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"strand": true,
"transcript": "NM_206853.3",
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},
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],
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"feature": "NM_206855.3",
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},
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},
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],
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"protein_id": "ENSP00000616930.1",
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"transcript": "ENST00000946871.1",
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},
{
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"consequences": [
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],
"exon_count": 7,
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"feature": "ENST00000873380.1",
"gene_hgnc_id": 21100,
"gene_symbol": "QKI",
"hgvs_c": "c.142+2645T>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000543439.1",
"strand": true,
"transcript": "ENST00000873380.1",
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},
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