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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: 10-32910213-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=32910213&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 32910213,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_002211.4",
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2164+10C>T",
"hgvs_p": null,
"transcript": "NM_002211.4",
"protein_id": "NP_002202.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": -4,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": "ENST00000302278.8",
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2164+10C>T",
"hgvs_p": null,
"transcript": "ENST00000302278.8",
"protein_id": "ENSP00000303351.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 798,
"cds_start": -4,
"cds_end": null,
"cds_length": 2397,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3735,
"mane_select": "NM_002211.4",
"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": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.1993+10C>T",
"hgvs_p": null,
"transcript": "ENST00000488427.2",
"protein_id": "ENSP00000417508.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 741,
"cds_start": -4,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3707,
"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": 18,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2164+10C>T",
"hgvs_p": null,
"transcript": "ENST00000677310.2",
"protein_id": "ENSP00000504508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7110,
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2164+10C>T",
"hgvs_p": null,
"transcript": "ENST00000678766.1",
"protein_id": "ENSP00000503538.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 825,
"cds_start": -4,
"cds_end": null,
"cds_length": 2478,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3780,
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2164+10C>T",
"hgvs_p": null,
"transcript": "ENST00000676659.1",
"protein_id": "ENSP00000502979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 819,
"cds_start": -4,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3779,
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2188+10C>T",
"hgvs_p": null,
"transcript": "ENST00000474568.6",
"protein_id": "ENSP00000420282.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
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"cdna_length": 4021,
"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": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2188+10C>T",
"hgvs_p": null,
"transcript": "ENST00000677363.1",
"protein_id": "ENSP00000504791.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 809,
"cds_start": -4,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4809,
"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": 16,
"intron_rank": 13,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2164+10C>T",
"hgvs_p": null,
"transcript": "NM_033668.2",
"protein_id": "NP_391988.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2164+10C>T",
"hgvs_p": null,
"transcript": "ENST00000423113.6",
"protein_id": "ENSP00000388694.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 801,
"cds_start": -4,
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"cds_length": 2406,
"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ITGB1",
"gene_hgnc_id": 6153,
"hgvs_c": "c.2173+10C>T",
"hgvs_p": null,
"transcript": "ENST00000488494.6",
"protein_id": "ENSP00000418725.2",
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"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"strand": false,
"consequences": [
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],
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"gene_symbol": "ITGB1",
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"hgvs_c": "c.2164+10C>T",
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"transcript": "NM_133376.3",
"protein_id": "NP_596867.1",
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},
{
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"strand": false,
"consequences": [
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],
"exon_rank": null,
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"intron_rank": 14,
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"gene_symbol": "ITGB1",
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"hgvs_c": "c.2164+10C>T",
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"transcript": "ENST00000396033.6",
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},
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],
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"gene_symbol": "ITGB1",
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"hgvs_c": "c.2164+10C>T",
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"transcript": "ENST00000417122.7",
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},
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],
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"transcript": "ENST00000437302.6",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "ITGB1",
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],
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"gene_symbol": "ITGB1",
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"hgvs_c": "c.2164+10C>T",
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},
{
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"consequences": [
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],
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"exon_count": 18,
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"gene_symbol": "ITGB1",
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"hgvs_c": "c.2164+10C>T",
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"transcript": "ENST00000678943.1",
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},
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],
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],
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},
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"consequences": [
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],
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"gene_symbol": "ITGB1",
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"hgvs_c": "c.2164+10C>T",
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"transcript": "ENST00000676460.1",
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},
{
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"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 15,
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"gene_symbol": "ITGB1",
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"hgvs_c": "c.1993+10C>T",
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"transcript": "ENST00000676964.1",
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.84,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -10,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"BP6_Moderate",
"BS2"
],
"verdict": "Benign",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}