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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: 5-132822900-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132822900&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": "SHROOM1",
"hgnc_id": 24084,
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001172700.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0865,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0951964259147644,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001172700.2",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000378679.8",
"protein_coding": true,
"protein_id": "NP_001166171.1",
"strand": false,
"transcript": "NM_001172700.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3768,
"cdna_start": 3009,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000378679.8",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001172700.2",
"protein_coding": true,
"protein_id": "ENSP00000367950.3",
"strand": false,
"transcript": "ENST00000378679.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 847,
"aa_ref": "A",
"aa_start": 814,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3190,
"cdna_start": 2610,
"cds_end": null,
"cds_length": 2544,
"cds_start": 2440,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000319854.7",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2440G>A",
"hgvs_p": "p.Ala814Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000324245.3",
"strand": false,
"transcript": "ENST00000319854.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3638,
"cdna_start": 2899,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000617339.4",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000478436.1",
"strand": false,
"transcript": "ENST00000617339.4",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3721,
"cdna_start": 2964,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891704.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561763.1",
"strand": false,
"transcript": "ENST00000891704.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3830,
"cdna_start": 3083,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891705.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561764.1",
"strand": false,
"transcript": "ENST00000891705.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3881,
"cdna_start": 3130,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000891706.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561765.1",
"strand": false,
"transcript": "ENST00000891706.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3551,
"cdna_start": 3004,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891707.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561766.1",
"strand": false,
"transcript": "ENST00000891707.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3522,
"cdna_start": 2766,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891708.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561767.1",
"strand": false,
"transcript": "ENST00000891708.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 2669,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891710.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561769.1",
"strand": false,
"transcript": "ENST00000891710.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3766,
"cdna_start": 3027,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891711.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561770.1",
"strand": false,
"transcript": "ENST00000891711.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 2694,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000891712.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561771.1",
"strand": false,
"transcript": "ENST00000891712.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3355,
"cdna_start": 2837,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891713.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561772.1",
"strand": false,
"transcript": "ENST00000891713.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3529,
"cdna_start": 3011,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000891714.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561773.1",
"strand": false,
"transcript": "ENST00000891714.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3908,
"cdna_start": 3149,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000891715.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561774.1",
"strand": false,
"transcript": "ENST00000891715.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5007,
"cdna_start": 4260,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000891716.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561775.1",
"strand": false,
"transcript": "ENST00000891716.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4699,
"cdna_start": 3948,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000891717.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000561776.1",
"strand": false,
"transcript": "ENST00000891717.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 2886,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924501.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594560.1",
"strand": false,
"transcript": "ENST00000924501.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3224,
"cdna_start": 2676,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000924502.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000594561.1",
"strand": false,
"transcript": "ENST00000924502.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3540,
"cdna_start": 2783,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000949960.1",
"gene_hgnc_id": 24084,
"gene_symbol": "SHROOM1",
"hgvs_c": "c.2455G>A",
"hgvs_p": "p.Ala819Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000620019.1",
"strand": false,
"transcript": "ENST00000949960.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 852,
"aa_ref": "A",
"aa_start": 819,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6419,
"cdna_start": 5664,
"cds_end": null,
"cds_length": 2559,
"cds_start": 2455,
"consequences": [
"missense_variant"
],
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