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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: 2-63122060-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63122060&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "WDPCP",
"hgnc_id": 28027,
"hgvs_c": "c.2191-4G>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_015910.7",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000286480",
"hgnc_id": null,
"hgvs_c": "n.130+15052C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000657946.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 6,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "2",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Bardet-Biedl syndrome",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.25999999046325684,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 746,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": null,
"cds_end": null,
"cds_length": 2241,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_015910.7",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2191-4G>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000272321.12",
"protein_coding": true,
"protein_id": "NP_056994.3",
"strand": false,
"transcript": "NM_015910.7",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 746,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": null,
"cds_end": null,
"cds_length": 2241,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000272321.12",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2191-4G>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015910.7",
"protein_coding": true,
"protein_id": "ENSP00000272321.7",
"strand": false,
"transcript": "ENST00000272321.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 587,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": null,
"cds_end": null,
"cds_length": 1764,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398544.7",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.1714-4G>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381552.3",
"strand": false,
"transcript": "ENST00000398544.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 554,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5408,
"cdna_start": null,
"cds_end": null,
"cds_length": 1665,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409120.5",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.1615-4G>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386769.1",
"strand": false,
"transcript": "ENST00000409120.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 793,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": null,
"cds_end": null,
"cds_length": 2382,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946854.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2332-4G>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616913.1",
"strand": false,
"transcript": "ENST00000946854.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 730,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3309,
"cdna_start": null,
"cds_end": null,
"cds_length": 2193,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872046.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2143-4G>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542105.1",
"strand": false,
"transcript": "ENST00000872046.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 722,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5146,
"cdna_start": null,
"cds_end": null,
"cds_length": 2169,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001354044.2",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2119-4G>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340973.1",
"strand": false,
"transcript": "NM_001354044.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 683,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": null,
"cds_end": null,
"cds_length": 2052,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872048.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2002-4G>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542107.1",
"strand": false,
"transcript": "ENST00000872048.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 682,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": null,
"cds_end": null,
"cds_length": 2049,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946852.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.1999-4G>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616911.1",
"strand": false,
"transcript": "ENST00000946852.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 599,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": null,
"cds_end": null,
"cds_length": 1800,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000872047.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.1750-4G>T",
"hgvs_p": null,
"intron_rank": 14,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000542106.1",
"strand": false,
"transcript": "ENST00000872047.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 587,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4335,
"cdna_start": null,
"cds_end": null,
"cds_length": 1764,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001042692.3",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.1714-4G>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001036157.1",
"strand": false,
"transcript": "NM_001042692.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 554,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": null,
"cds_end": null,
"cds_length": 1665,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000409199.5",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.1615-4G>T",
"hgvs_p": null,
"intron_rank": 11,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386592.1",
"strand": false,
"transcript": "ENST00000409199.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 536,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": null,
"cds_end": null,
"cds_length": 1611,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000946853.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.1561-4G>T",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616912.1",
"strand": false,
"transcript": "ENST00000946853.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 781,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": null,
"cds_end": null,
"cds_length": 2346,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005264348.5",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2111-4G>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005264405.1",
"strand": false,
"transcript": "XM_005264348.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 757,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5066,
"cdna_start": null,
"cds_end": null,
"cds_length": 2274,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011532881.4",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2039-4G>T",
"hgvs_p": null,
"intron_rank": 17,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011531183.1",
"strand": false,
"transcript": "XM_011532881.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 757,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10222,
"cdna_start": null,
"cds_end": null,
"cds_length": 2274,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444626.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2039-4G>T",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300582.1",
"strand": false,
"transcript": "XM_047444626.1",
"transcript_support_level": null
},
{
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"aa_length": 757,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": null,
"cds_end": null,
"cds_length": 2274,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444627.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2039-4G>T",
"hgvs_p": null,
"intron_rank": 19,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300583.1",
"strand": false,
"transcript": "XM_047444627.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 757,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": null,
"cds_end": null,
"cds_length": 2274,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444628.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2039-4G>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300584.1",
"strand": false,
"transcript": "XM_047444628.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 757,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5749,
"cdna_start": null,
"cds_end": null,
"cds_length": 2274,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444629.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2039-4G>T",
"hgvs_p": null,
"intron_rank": 18,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300585.1",
"strand": false,
"transcript": "XM_047444629.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 748,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": null,
"cds_end": null,
"cds_length": 2247,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047444630.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.2012-4G>T",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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