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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: 6-169579060-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169579060&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169579060,
"ref": "C",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000448612.6",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2523+3776G>A",
"hgvs_p": null,
"transcript": "NM_182552.5",
"protein_id": "NP_872358.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": "ENST00000448612.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2523+3776G>A",
"hgvs_p": null,
"transcript": "ENST00000448612.6",
"protein_id": "ENSP00000416289.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 895,
"cds_start": -4,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3554,
"mane_select": "NM_182552.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2142+3776G>A",
"hgvs_p": null,
"transcript": "ENST00000423258.5",
"protein_id": "ENSP00000397869.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": -4,
"cds_end": null,
"cds_length": 2193,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2465,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285733",
"gene_hgnc_id": null,
"hgvs_c": "c.533+3776G>A",
"hgvs_p": null,
"transcript": "ENST00000648086.1",
"protein_id": "ENSP00000497979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": -4,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2395,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.1904+3776G>A",
"hgvs_p": null,
"transcript": "ENST00000546525.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2433+3776G>A",
"hgvs_p": null,
"transcript": "ENST00000850900.1",
"protein_id": "ENSP00000520975.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 827,
"cds_start": -4,
"cds_end": null,
"cds_length": 2484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3342,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2142+3776G>A",
"hgvs_p": null,
"transcript": "NM_001202550.2",
"protein_id": "NP_001189479.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 730,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.1950+3776G>A",
"hgvs_p": null,
"transcript": "NM_001350623.2",
"protein_id": "NP_001337552.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 666,
"cds_start": -4,
"cds_end": null,
"cds_length": 2001,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2712,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.866+3776G>A",
"hgvs_p": null,
"transcript": "ENST00000479310.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.*2729+3776G>A",
"hgvs_p": null,
"transcript": "ENST00000647790.1",
"protein_id": "ENSP00000498206.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 22,
"intron_rank": 19,
"intron_rank_end": null,
"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "n.*1428+3776G>A",
"hgvs_p": null,
"transcript": "ENST00000648472.1",
"protein_id": "ENSP00000496961.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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},
{
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"strand": false,
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],
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"gene_symbol": "ENSG00000285733",
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},
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"strand": false,
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],
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"gene_symbol": "WDR27",
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"hgvs_c": "n.2483+3776G>A",
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},
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],
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},
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],
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"gene_symbol": "WDR27",
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"hgvs_c": "c.2523+3776G>A",
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"hgvs_c": "c.2523+3776G>A",
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},
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],
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"gene_symbol": "WDR27",
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"hgvs_c": "c.2523+3776G>A",
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"transcript": "XM_017010660.3",
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],
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"gene_symbol": "WDR27",
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"hgvs_c": "c.2523+3776G>A",
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],
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},
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],
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"gene_symbol": "WDR27",
"gene_hgnc_id": 21248,
"hgvs_c": "c.2523+3776G>A",
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"transcript": "XM_011535692.4",
"protein_id": "XP_011533994.1",
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},
{
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"strand": false,
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],
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"intron_rank": 19,
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"gene_symbol": "WDR27",
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"hgvs_c": "c.1950+3776G>A",
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"transcript": "XM_017010669.2",
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{
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{
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],
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"gnomad_genomes_ac": 73414,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.97,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000448612.6",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000648086.1",
"gene_symbol": "ENSG00000285733",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.533+3776G>A",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}