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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: 15-57273247-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57273247&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCF12",
"hgnc_id": 11623,
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"inheritance_mode": "AD,AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_207036.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9998,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.6,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9268360137939453,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6114,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_207037.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000333725.10",
"protein_coding": true,
"protein_id": "NP_996920.1",
"strand": true,
"transcript": "NM_207037.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6114,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000333725.10",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_207037.2",
"protein_coding": true,
"protein_id": "ENSP00000331057.6",
"strand": true,
"transcript": "ENST00000333725.10",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 682,
"aa_ref": "E",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6061,
"cdna_start": 2195,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1891,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000267811.9",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Glu631Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000267811.5",
"strand": true,
"transcript": "ENST00000267811.9",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 682,
"aa_ref": "E",
"aa_start": 631,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4076,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 2049,
"cds_start": 1891,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000557843.5",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Glu631Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000453737.1",
"strand": true,
"transcript": "ENST00000557843.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 536,
"aa_ref": "E",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 1545,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000543579.5",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1453G>A",
"hgvs_p": "p.Glu485Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440017.1",
"strand": true,
"transcript": "ENST00000543579.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 512,
"aa_ref": "E",
"aa_start": 461,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 1437,
"cds_end": null,
"cds_length": 1539,
"cds_start": 1381,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000343827.7",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1381G>A",
"hgvs_p": "p.Glu461Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000342459.3",
"strand": true,
"transcript": "ENST00000343827.7",
"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": 1183,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000560190.5",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "n.620G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000560190.5",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 736,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4832,
"cdna_start": 2217,
"cds_end": null,
"cds_length": 2211,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000945990.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000616049.1",
"strand": true,
"transcript": "ENST00000945990.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6118,
"cdna_start": 2252,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001322151.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309080.1",
"strand": true,
"transcript": "NM_001322151.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001322159.3",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309088.1",
"strand": true,
"transcript": "NM_001322159.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5993,
"cdna_start": 2127,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001322162.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309091.1",
"strand": true,
"transcript": "NM_001322162.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6104,
"cdna_start": 2238,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_207036.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_996919.1",
"strand": true,
"transcript": "NM_207036.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4786,
"cdna_start": 2259,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000438423.6",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000388940.2",
"strand": true,
"transcript": "ENST00000438423.6",
"transcript_support_level": 5
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5509,
"cdna_start": 2978,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000888327.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558386.1",
"strand": true,
"transcript": "ENST00000888327.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 2248,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000888332.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558391.1",
"strand": true,
"transcript": "ENST00000888332.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 706,
"aa_ref": "E",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 2341,
"cds_end": null,
"cds_length": 2121,
"cds_start": 1963,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000934199.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1963G>A",
"hgvs_p": "p.Glu655Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604258.1",
"strand": true,
"transcript": "ENST00000934199.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 705,
"aa_ref": "E",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6111,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001322152.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Glu654Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309081.1",
"strand": true,
"transcript": "NM_001322152.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 705,
"aa_ref": "E",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5990,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "NM_001322161.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Glu654Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001309090.1",
"strand": true,
"transcript": "NM_001322161.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 705,
"aa_ref": "E",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4770,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000888324.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Glu654Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000558383.1",
"strand": true,
"transcript": "ENST00000888324.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 705,
"aa_ref": "E",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6231,
"cdna_start": 2365,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000934194.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Glu654Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604253.1",
"strand": true,
"transcript": "ENST00000934194.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 705,
"aa_ref": "E",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 2940,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1960,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000934197.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.1960G>A",
"hgvs_p": "p.Glu654Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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