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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: X-155491608-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=155491608&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMLHE",
"hgnc_id": 18308,
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"inheritance_mode": "Unknown,XL",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_018196.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PP3_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TMLHE-AS1",
"hgnc_id": 44261,
"hgvs_c": "n.472-1272C>G",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000433624.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3_Strong",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9935,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.73,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.988825798034668,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3952,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_018196.4",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000334398.8",
"protein_coding": true,
"protein_id": "NP_060666.1",
"strand": false,
"transcript": "NM_018196.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3952,
"cdna_start": 1355,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000334398.8",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018196.4",
"protein_coding": true,
"protein_id": "ENSP00000335261.3",
"strand": false,
"transcript": "ENST00000334398.8",
"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": 1702,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000433624.1",
"gene_hgnc_id": 44261,
"gene_symbol": "TMLHE-AS1",
"hgvs_c": "n.472-1272C>G",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000433624.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 444,
"aa_ref": "R",
"aa_start": 421,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 1380,
"cds_end": null,
"cds_length": 1335,
"cds_start": 1262,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902557.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1262G>C",
"hgvs_p": "p.Arg421Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572616.1",
"strand": false,
"transcript": "ENST00000902557.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 432,
"aa_ref": "R",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 1450,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1226,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000675642.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1226G>C",
"hgvs_p": "p.Arg409Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502604.1",
"strand": false,
"transcript": "ENST00000675642.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3886,
"cdna_start": 1275,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000902548.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572607.1",
"strand": false,
"transcript": "ENST00000902548.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3965,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902549.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572608.1",
"strand": false,
"transcript": "ENST00000902549.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1880,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902550.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572609.1",
"strand": false,
"transcript": "ENST00000902550.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4463,
"cdna_start": 1461,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902551.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572610.1",
"strand": false,
"transcript": "ENST00000902551.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2832,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000902554.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572613.1",
"strand": false,
"transcript": "ENST00000902554.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1577,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902555.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572614.1",
"strand": false,
"transcript": "ENST00000902555.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3047,
"cdna_start": 1552,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960922.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630981.1",
"strand": false,
"transcript": "ENST00000960922.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 421,
"aa_ref": "R",
"aa_start": 398,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3105,
"cdna_start": 1631,
"cds_end": null,
"cds_length": 1266,
"cds_start": 1193,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000960923.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1193G>C",
"hgvs_p": "p.Arg398Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630982.1",
"strand": false,
"transcript": "ENST00000960923.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 358,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1355,
"cdna_start": 1235,
"cds_end": null,
"cds_length": 1146,
"cds_start": 1073,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902556.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1073G>C",
"hgvs_p": "p.Arg358Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572615.1",
"strand": false,
"transcript": "ENST00000902556.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 362,
"aa_ref": "R",
"aa_start": 339,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3785,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1089,
"cds_start": 1016,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902552.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1016G>C",
"hgvs_p": "p.Arg339Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572611.1",
"strand": false,
"transcript": "ENST00000902552.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 342,
"aa_ref": "R",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3716,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1029,
"cds_start": 956,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000902553.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.956G>C",
"hgvs_p": "p.Arg319Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572612.1",
"strand": false,
"transcript": "ENST00000902553.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 323,
"aa_ref": "R",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2517,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 972,
"cds_start": 899,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000960924.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.899G>C",
"hgvs_p": "p.Arg300Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000630983.1",
"strand": false,
"transcript": "ENST00000960924.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 370,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3824,
"cdna_start": 1227,
"cds_end": null,
"cds_length": 1113,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_011531182.4",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1040G>C",
"hgvs_p": "p.Arg347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011529484.1",
"strand": false,
"transcript": "XM_011531182.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 370,
"aa_ref": "R",
"aa_start": 347,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3922,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1113,
"cds_start": 1040,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047442234.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.1040G>C",
"hgvs_p": "p.Arg347Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298190.1",
"strand": false,
"transcript": "XM_047442234.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3770,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1062,
"cds_start": 989,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_047442235.1",
"gene_hgnc_id": 18308,
"gene_symbol": "TMLHE",
"hgvs_c": "c.989G>C",
"hgvs_p": "p.Arg330Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047298191.1",
"strand": false,
"transcript": "XM_047442235.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 353,
"aa_ref": "R",
"aa_start": 330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 1019,
"cds_end": null,
"cds_length": 1062,
"cds_start": 989,
"consequences": [
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