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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: 9-79709677-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=79709677&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 79709677,
"ref": "A",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001282748.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1318A>T",
"hgvs_p": "p.Thr440Ser",
"transcript": "NM_007005.6",
"protein_id": "NP_008936.2",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 773,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376552.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007005.6"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1318A>T",
"hgvs_p": "p.Thr440Ser",
"transcript": "ENST00000376552.8",
"protein_id": "ENSP00000365735.2",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 773,
"cds_start": 1318,
"cds_end": null,
"cds_length": 2322,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007005.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376552.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1414A>T",
"hgvs_p": "p.Thr472Ser",
"transcript": "ENST00000376537.8",
"protein_id": "ENSP00000365720.4",
"transcript_support_level": 1,
"aa_start": 472,
"aa_end": null,
"aa_length": 805,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376537.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1111A>T",
"hgvs_p": "p.Thr371Ser",
"transcript": "ENST00000376544.7",
"protein_id": "ENSP00000365727.4",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 704,
"cds_start": 1111,
"cds_end": null,
"cds_length": 2115,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376544.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "n.*1140A>T",
"hgvs_p": null,
"transcript": "ENST00000470872.5",
"protein_id": "ENSP00000417245.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470872.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "n.*1140A>T",
"hgvs_p": null,
"transcript": "ENST00000470872.5",
"protein_id": "ENSP00000417245.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000470872.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1414A>T",
"hgvs_p": "p.Thr472Ser",
"transcript": "NM_001282748.2",
"protein_id": "NP_001269677.1",
"transcript_support_level": null,
"aa_start": 472,
"aa_end": null,
"aa_length": 805,
"cds_start": 1414,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282748.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1357A>T",
"hgvs_p": "p.Thr453Ser",
"transcript": "NM_001351541.2",
"protein_id": "NP_001338470.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 786,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351541.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1357A>T",
"hgvs_p": "p.Thr453Ser",
"transcript": "ENST00000965889.1",
"protein_id": "ENSP00000635948.1",
"transcript_support_level": null,
"aa_start": 453,
"aa_end": null,
"aa_length": 786,
"cds_start": 1357,
"cds_end": null,
"cds_length": 2361,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965889.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1321A>T",
"hgvs_p": "p.Thr441Ser",
"transcript": "NM_001351542.2",
"protein_id": "NP_001338471.1",
"transcript_support_level": null,
"aa_start": 441,
"aa_end": null,
"aa_length": 774,
"cds_start": 1321,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351542.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1315A>T",
"hgvs_p": "p.Thr439Ser",
"transcript": "NM_001351543.2",
"protein_id": "NP_001338472.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 772,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351543.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1315A>T",
"hgvs_p": "p.Thr439Ser",
"transcript": "ENST00000706431.1",
"protein_id": "ENSP00000516378.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 772,
"cds_start": 1315,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000706431.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1312A>T",
"hgvs_p": "p.Thr438Ser",
"transcript": "NM_001351546.2",
"protein_id": "NP_001338475.1",
"transcript_support_level": null,
"aa_start": 438,
"aa_end": null,
"aa_length": 771,
"cds_start": 1312,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351546.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1267A>T",
"hgvs_p": "p.Thr423Ser",
"transcript": "NM_001351547.2",
"protein_id": "NP_001338476.1",
"transcript_support_level": null,
"aa_start": 423,
"aa_end": null,
"aa_length": 756,
"cds_start": 1267,
"cds_end": null,
"cds_length": 2271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351547.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1264A>T",
"hgvs_p": "p.Thr422Ser",
"transcript": "ENST00000965887.1",
"protein_id": "ENSP00000635946.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 755,
"cds_start": 1264,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965887.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1258A>T",
"hgvs_p": "p.Thr420Ser",
"transcript": "NM_001351550.2",
"protein_id": "NP_001338479.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 753,
"cds_start": 1258,
"cds_end": null,
"cds_length": 2262,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351550.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1255A>T",
"hgvs_p": "p.Thr419Ser",
"transcript": "NM_001351552.2",
"protein_id": "NP_001338481.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 752,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351552.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1255A>T",
"hgvs_p": "p.Thr419Ser",
"transcript": "ENST00000965888.1",
"protein_id": "ENSP00000635947.1",
"transcript_support_level": null,
"aa_start": 419,
"aa_end": null,
"aa_length": 752,
"cds_start": 1255,
"cds_end": null,
"cds_length": 2259,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965888.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1249A>T",
"hgvs_p": "p.Thr417Ser",
"transcript": "NM_001351556.2",
"protein_id": "NP_001338485.1",
"transcript_support_level": null,
"aa_start": 417,
"aa_end": null,
"aa_length": 750,
"cds_start": 1249,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351556.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1246A>T",
"hgvs_p": "p.Thr416Ser",
"transcript": "NM_001351558.2",
"protein_id": "NP_001338487.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 749,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351558.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1243A>T",
"hgvs_p": "p.Thr415Ser",
"transcript": "NM_001282749.2",
"protein_id": "NP_001269678.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 748,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282749.2"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE4",
"gene_hgnc_id": 11840,
"hgvs_c": "c.1243A>T",
"hgvs_p": "p.Thr415Ser",
"transcript": "ENST00000265284.10",
"protein_id": "ENSP00000265284.6",
"transcript_support_level": 2,
"aa_start": 415,
"aa_end": null,
"aa_length": 748,
"cds_start": 1243,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.072,
"revel_prediction": "Benign",
"alphamissense_score": 0.0678,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.58,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.3,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001282748.2",
"gene_symbol": "TLE4",
"hgnc_id": 11840,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1414A>T",
"hgvs_p": "p.Thr472Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}