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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: 20-64070568-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=64070568&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": "TCEA2",
"hgnc_id": 11614,
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003195.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.4987,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "20",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.21210148930549622,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 299,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": 867,
"cds_end": null,
"cds_length": 900,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003195.6",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000343484.10",
"protein_coding": true,
"protein_id": "NP_003186.1",
"strand": true,
"transcript": "NM_003195.6",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 299,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1182,
"cdna_start": 867,
"cds_end": null,
"cds_length": 900,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000343484.10",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003195.6",
"protein_coding": true,
"protein_id": "ENSP00000343515.5",
"strand": true,
"transcript": "ENST00000343484.10",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 315,
"aa_ref": "T",
"aa_start": 267,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1294,
"cdna_start": 979,
"cds_end": null,
"cds_length": 948,
"cds_start": 800,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000881796.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.800C>T",
"hgvs_p": "p.Thr267Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551855.1",
"strand": true,
"transcript": "ENST00000881796.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 305,
"aa_ref": "T",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1185,
"cdna_start": 861,
"cds_end": null,
"cds_length": 918,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940921.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Thr253Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610980.1",
"strand": true,
"transcript": "ENST00000940921.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 301,
"aa_ref": "T",
"aa_start": 253,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1242,
"cdna_start": 927,
"cds_end": null,
"cds_length": 906,
"cds_start": 758,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881797.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.758C>T",
"hgvs_p": "p.Thr253Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551856.1",
"strand": true,
"transcript": "ENST00000881797.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 298,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1230,
"cdna_start": 910,
"cds_end": null,
"cds_length": 897,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881799.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Thr250Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551858.1",
"strand": true,
"transcript": "ENST00000881799.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 297,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1229,
"cdna_start": 920,
"cds_end": null,
"cds_length": 894,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000881798.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000551857.1",
"strand": true,
"transcript": "ENST00000881798.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 296,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1151,
"cdna_start": 847,
"cds_end": null,
"cds_length": 891,
"cds_start": 749,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000940922.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.749C>T",
"hgvs_p": "p.Thr250Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000610981.1",
"strand": true,
"transcript": "ENST00000940922.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 272,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1749,
"cdna_start": 1434,
"cds_end": null,
"cds_length": 819,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_198723.2",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_942016.1",
"strand": true,
"transcript": "NM_198723.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 272,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 819,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000361317.6",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354552.2",
"strand": true,
"transcript": "ENST00000361317.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 271,
"aa_ref": "T",
"aa_start": 223,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1102,
"cdna_start": 787,
"cds_end": null,
"cds_length": 816,
"cds_start": 668,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000935688.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.668C>T",
"hgvs_p": "p.Thr223Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605747.1",
"strand": true,
"transcript": "ENST00000935688.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 269,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 941,
"cdna_start": 802,
"cds_end": null,
"cds_length": 810,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000458442.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000416026.1",
"strand": true,
"transcript": "ENST00000458442.1",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 953,
"cdna_start": 886,
"cds_end": null,
"cds_length": 738,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000339217.8",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000339432.4",
"strand": true,
"transcript": "ENST00000339217.8",
"transcript_support_level": 3
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 245,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1083,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 738,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000440819.5",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407085.1",
"strand": true,
"transcript": "ENST00000440819.5",
"transcript_support_level": 5
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 324,
"aa_ref": "T",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1412,
"cdna_start": 867,
"cds_end": null,
"cds_length": 975,
"cds_start": 752,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_005260229.5",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.752C>T",
"hgvs_p": "p.Thr251Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005260286.1",
"strand": true,
"transcript": "XM_005260229.5",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 297,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2383,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 894,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "XM_024451976.2",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307744.1",
"strand": true,
"transcript": "XM_024451976.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 297,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3276,
"cdna_start": 2731,
"cds_end": null,
"cds_length": 894,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_024451981.2",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307749.1",
"strand": true,
"transcript": "XM_024451981.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 297,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": 925,
"cds_end": null,
"cds_length": 894,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_024451983.2",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307751.1",
"strand": true,
"transcript": "XM_024451983.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 297,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1618,
"cdna_start": 1073,
"cds_end": null,
"cds_length": 894,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_024451984.1",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307752.1",
"strand": true,
"transcript": "XM_024451984.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 297,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 899,
"cds_end": null,
"cds_length": 894,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_024451985.2",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
"hgvs_c": "c.671C>T",
"hgvs_p": "p.Thr224Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024307753.1",
"strand": true,
"transcript": "XM_024451985.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 297,
"aa_ref": "T",
"aa_start": 224,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1311,
"cdna_start": 766,
"cds_end": null,
"cds_length": 894,
"cds_start": 671,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_024451986.2",
"gene_hgnc_id": 11614,
"gene_symbol": "TCEA2",
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