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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: 2-63487491-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63487491&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "WDPCP",
"hgnc_id": 28027,
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_015910.7",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.096,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.04,
"chr": "2",
"clinvar_classification": "risk factor",
"clinvar_disease": " modifier of, type 6,Meckel syndrome",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.10788321495056152,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 746,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": 370,
"cds_end": null,
"cds_length": 2241,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_015910.7",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 746,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4894,
"cdna_start": 370,
"cds_end": null,
"cds_length": 2241,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000272321.12",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 618,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3544,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1857,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409562.7",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387222.3",
"strand": false,
"transcript": "ENST00000409562.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2277,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000409835.5",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "n.411G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000409835.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 793,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3202,
"cdna_start": 379,
"cds_end": null,
"cds_length": 2382,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946854.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 730,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3309,
"cdna_start": 651,
"cds_end": null,
"cds_length": 2193,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872046.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5146,
"cdna_start": 622,
"cds_end": null,
"cds_length": 2169,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001354044.2",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 683,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2441,
"cdna_start": 379,
"cds_end": null,
"cds_length": 2052,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872048.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 682,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3100,
"cdna_start": 610,
"cds_end": null,
"cds_length": 2049,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946852.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 649,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2337,
"cdna_start": 370,
"cds_end": null,
"cds_length": 1950,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001354045.2",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001340974.1",
"strand": false,
"transcript": "NM_001354045.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 599,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2635,
"cdna_start": 395,
"cds_end": null,
"cds_length": 1800,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000872047.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 536,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": 411,
"cds_end": null,
"cds_length": 1611,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000946853.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 83,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": 692,
"cds_end": null,
"cds_length": 254,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000431065.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396226.1",
"strand": false,
"transcript": "ENST00000431065.1",
"transcript_support_level": 4
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 781,
"aa_ref": "R",
"aa_start": 55,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4814,
"cdna_start": 370,
"cds_end": null,
"cds_length": 2346,
"cds_start": 164,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005264348.5",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.164G>A",
"hgvs_p": "p.Arg55Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5066,
"cdna_start": 622,
"cds_end": null,
"cds_length": 2274,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_011532881.4",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10222,
"cdna_start": 5778,
"cds_end": null,
"cds_length": 2274,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047444626.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Lys",
"intron_rank": null,
"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
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5835,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 2274,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047444627.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5073,
"cdna_start": 629,
"cds_end": null,
"cds_length": 2274,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047444628.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 757,
"aa_ref": "R",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5749,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 2274,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047444629.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Lys",
"intron_rank": null,
"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": "K",
"aa_end": null,
"aa_length": 748,
"aa_ref": "R",
"aa_start": 22,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5944,
"cdna_start": 1500,
"cds_end": null,
"cds_length": 2247,
"cds_start": 65,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047444630.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.65G>A",
"hgvs_p": "p.Arg22Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047300586.1",
"strand": false,
"transcript": "XM_047444630.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 722,
"aa_ref": "R",
"aa_start": 31,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5829,
"cdna_start": 1305,
"cds_end": null,
"cds_length": 2169,
"cds_start": 92,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_047444631.1",
"gene_hgnc_id": 28027,
"gene_symbol": "WDPCP",
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Lys",
"intron_rank": null,
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