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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: 15-57232784-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57232784&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCF12",
"hgnc_id": 11623,
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_207036.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 63194,
"alphamissense_prediction": null,
"alphamissense_score": 0.0636,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.46,
"chr": "15",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0015925467014312744,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6114,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_207037.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6114,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000333725.10",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 682,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6061,
"cdna_start": 1202,
"cds_end": null,
"cds_length": 2049,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000267811.9",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 682,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4076,
"cdna_start": 985,
"cds_end": null,
"cds_length": 2049,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000557843.5",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "G",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1809,
"cdna_start": 480,
"cds_end": null,
"cds_length": 1611,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000543579.5",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Gly130Ser",
"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": "S",
"aa_end": null,
"aa_length": 512,
"aa_ref": "G",
"aa_start": 130,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3956,
"cdna_start": 444,
"cds_end": null,
"cds_length": 1539,
"cds_start": 388,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000343827.7",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.388G>A",
"hgvs_p": "p.Gly130Ser",
"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": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000560190.5",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "n.403-40246G>A",
"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": "ENST00000560190.5",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 736,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4832,
"cdna_start": 1152,
"cds_end": null,
"cds_length": 2211,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000945990.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6118,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001322151.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001322159.3",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5993,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001322162.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6104,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_207036.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4786,
"cdna_start": 1194,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000438423.6",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5509,
"cdna_start": 1913,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000888327.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3282,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000888332.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 706,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4866,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 2121,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934199.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 705,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6111,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 2118,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001322152.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
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"aa_length": 705,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5990,
"cdna_start": 1062,
"cds_end": null,
"cds_length": 2118,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001322161.2",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 705,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4770,
"cdna_start": 1183,
"cds_end": null,
"cds_length": 2118,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000888324.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 705,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6231,
"cdna_start": 1303,
"cds_end": null,
"cds_length": 2118,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000934194.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"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": "S",
"aa_end": null,
"aa_length": 705,
"aa_ref": "G",
"aa_start": 300,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5459,
"cdna_start": 1878,
"cds_end": null,
"cds_length": 2118,
"cds_start": 898,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000934197.1",
"gene_hgnc_id": 11623,
"gene_symbol": "TCF12",
"hgvs_c": "c.898G>A",
"hgvs_p": "p.Gly300Ser",
"intron_rank": null,
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