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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: 19-18929574-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=18929574&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": "HOMER3",
"hgnc_id": 17514,
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_004838.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000268193",
"hgnc_id": null,
"hgvs_c": "n.*167+1751G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000596918.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.1116,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.53,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.18744605779647827,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_004838.4",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392351.8",
"protein_coding": true,
"protein_id": "NP_004829.3",
"strand": false,
"transcript": "NM_004838.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1560,
"cdna_start": 1189,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000392351.8",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004838.4",
"protein_coding": true,
"protein_id": "ENSP00000376162.2",
"strand": false,
"transcript": "ENST00000392351.8",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1979,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000539827.5",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439937.1",
"strand": false,
"transcript": "ENST00000539827.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1607,
"cdna_start": 1476,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000542541.6",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446026.1",
"strand": false,
"transcript": "ENST00000542541.6",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 325,
"aa_ref": "E",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 982,
"cdna_start": 847,
"cds_end": null,
"cds_length": 978,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000594439.5",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Glu283Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000471835.1",
"strand": false,
"transcript": "ENST00000594439.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 685,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000596918.5",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000268193",
"hgvs_c": "n.*167+1751G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000469669.1",
"strand": false,
"transcript": "ENST00000596918.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1848,
"cdna_start": 1477,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001145722.2",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139194.1",
"strand": false,
"transcript": "NM_001145722.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1514,
"cdna_start": 1143,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861160.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531219.1",
"strand": false,
"transcript": "ENST00000861160.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1438,
"cdna_start": 1067,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861162.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531221.1",
"strand": false,
"transcript": "ENST00000861162.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1420,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936392.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606451.1",
"strand": false,
"transcript": "ENST00000936392.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2138,
"cdna_start": 1767,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000936393.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606452.1",
"strand": false,
"transcript": "ENST00000936393.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": 1382,
"cds_end": null,
"cds_length": 1086,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971945.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.955G>A",
"hgvs_p": "p.Glu319Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642004.1",
"strand": false,
"transcript": "ENST00000971945.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 360,
"aa_ref": "E",
"aa_start": 318,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 1083,
"cds_start": 952,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000861161.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.952G>A",
"hgvs_p": "p.Glu318Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000531220.1",
"strand": false,
"transcript": "ENST00000861161.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 358,
"aa_ref": "E",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1077,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001145721.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Glu316Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139193.1",
"strand": false,
"transcript": "NM_001145721.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 358,
"aa_ref": "E",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1384,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 1077,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000221222.15",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Glu316Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000221222.11",
"strand": false,
"transcript": "ENST00000221222.15",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 358,
"aa_ref": "E",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1418,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1077,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000433218.6",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Glu316Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000396154.2",
"strand": false,
"transcript": "ENST00000433218.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 355,
"aa_ref": "E",
"aa_start": 313,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1488,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1068,
"cds_start": 937,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971944.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642003.1",
"strand": false,
"transcript": "ENST00000971944.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 342,
"aa_ref": "E",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1396,
"cdna_start": 1025,
"cds_end": null,
"cds_length": 1029,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000971943.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Glu300Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000642002.1",
"strand": false,
"transcript": "ENST00000971943.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 325,
"aa_ref": "E",
"aa_start": 283,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1287,
"cdna_start": 914,
"cds_end": null,
"cds_length": 978,
"cds_start": 847,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001145724.1",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.847G>A",
"hgvs_p": "p.Glu283Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001139196.1",
"strand": false,
"transcript": "NM_001145724.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 152,
"aa_ref": "E",
"aa_start": 110,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 903,
"cdna_start": 535,
"cds_end": null,
"cds_length": 459,
"cds_start": 328,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000594794.5",
"gene_hgnc_id": 17514,
"gene_symbol": "HOMER3",
"hgvs_c": "c.328G>A",
"hgvs_p": "p.Glu110Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000469800.1",
"strand": false,
"transcript": "ENST00000594794.5",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 361,
"aa_ref": "E",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1644,
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