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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: 15-57273178-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57273178&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 57273178,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000333725.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Leu632Leu",
"transcript": "NM_207037.2",
"protein_id": "NP_996920.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 706,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": "ENST00000333725.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Leu632Leu",
"transcript": "ENST00000333725.10",
"protein_id": "ENSP00000331057.6",
"transcript_support_level": 1,
"aa_start": 632,
"aa_end": null,
"aa_length": 706,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": "NM_207037.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1822T>C",
"hgvs_p": "p.Leu608Leu",
"transcript": "ENST00000267811.9",
"protein_id": "ENSP00000267811.5",
"transcript_support_level": 1,
"aa_start": 608,
"aa_end": null,
"aa_length": 682,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2126,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1822T>C",
"hgvs_p": "p.Leu608Leu",
"transcript": "ENST00000557843.5",
"protein_id": "ENSP00000453737.1",
"transcript_support_level": 1,
"aa_start": 608,
"aa_end": null,
"aa_length": 682,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1384T>C",
"hgvs_p": "p.Leu462Leu",
"transcript": "ENST00000543579.5",
"protein_id": "ENSP00000440017.1",
"transcript_support_level": 1,
"aa_start": 462,
"aa_end": null,
"aa_length": 536,
"cds_start": 1384,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1476,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1312T>C",
"hgvs_p": "p.Leu438Leu",
"transcript": "ENST00000343827.7",
"protein_id": "ENSP00000342459.3",
"transcript_support_level": 1,
"aa_start": 438,
"aa_end": null,
"aa_length": 512,
"cds_start": 1312,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1368,
"cdna_end": null,
"cdna_length": 3956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "n.551T>C",
"hgvs_p": null,
"transcript": "ENST00000560190.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1183,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Leu632Leu",
"transcript": "NM_001322151.2",
"protein_id": "NP_001309080.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 706,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2183,
"cdna_end": null,
"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Leu632Leu",
"transcript": "NM_001322159.3",
"protein_id": "NP_001309088.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 706,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2179,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Leu632Leu",
"transcript": "NM_001322162.2",
"protein_id": "NP_001309091.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 706,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2058,
"cdna_end": null,
"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Leu632Leu",
"transcript": "NM_207036.2",
"protein_id": "NP_996919.1",
"transcript_support_level": null,
"aa_start": 632,
"aa_end": null,
"aa_length": 706,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Leu632Leu",
"transcript": "ENST00000438423.6",
"protein_id": "ENSP00000388940.2",
"transcript_support_level": 5,
"aa_start": 632,
"aa_end": null,
"aa_length": 706,
"cds_start": 1894,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2190,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1891T>C",
"hgvs_p": "p.Leu631Leu",
"transcript": "NM_001322152.2",
"protein_id": "NP_001309081.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 705,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2176,
"cdna_end": null,
"cdna_length": 6111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1891T>C",
"hgvs_p": "p.Leu631Leu",
"transcript": "NM_001322161.2",
"protein_id": "NP_001309090.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 705,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2055,
"cdna_end": null,
"cdna_length": 5990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1858T>C",
"hgvs_p": "p.Leu620Leu",
"transcript": "NM_001322164.2",
"protein_id": "NP_001309093.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 694,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2327,
"cdna_end": null,
"cdna_length": 6262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1822T>C",
"hgvs_p": "p.Leu608Leu",
"transcript": "NM_001322157.3",
"protein_id": "NP_001309086.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 682,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1822T>C",
"hgvs_p": "p.Leu608Leu",
"transcript": "NM_001322165.2",
"protein_id": "NP_001309094.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 682,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2291,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1822T>C",
"hgvs_p": "p.Leu608Leu",
"transcript": "NM_003205.4",
"protein_id": "NP_003196.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 682,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2107,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1822T>C",
"hgvs_p": "p.Leu608Leu",
"transcript": "NM_207038.2",
"protein_id": "NP_996921.1",
"transcript_support_level": null,
"aa_start": 608,
"aa_end": null,
"aa_length": 682,
"cds_start": 1822,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1882T>C",
"hgvs_p": "p.Leu628Leu",
"transcript": "ENST00000559609.5",
"protein_id": "ENSP00000453876.1",
"transcript_support_level": 2,
"aa_start": 628,
"aa_end": null,
"aa_length": 665,
"cds_start": 1882,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2136,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1720T>C",
"hgvs_p": "p.Leu574Leu",
"transcript": "NM_001322156.2",
"protein_id": "NP_001309085.1",
"transcript_support_level": null,
"aa_start": 574,
"aa_end": null,
"aa_length": 648,
"cds_start": 1720,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2241,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "c.1648T>C",
"hgvs_p": "p.Leu550Leu",
"transcript": "NM_001322158.2",
"protein_id": "NP_001309087.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 624,
"cds_start": 1648,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 2169,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"hgvs_c": "n.*14T>C",
"hgvs_p": null,
"transcript": "ENST00000561449.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TCF12",
"gene_hgnc_id": 11623,
"dbsnp": "rs10047994",
"frequency_reference_population": 0.0061598984,
"hom_count_reference_population": 538,
"allele_count_reference_population": 9943,
"gnomad_exomes_af": 0.00345856,
"gnomad_genomes_af": 0.0320943,
"gnomad_exomes_ac": 5056,
"gnomad_genomes_ac": 4887,
"gnomad_exomes_homalt": 266,
"gnomad_genomes_homalt": 272,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4699999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.143,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000333725.10",
"gene_symbol": "TCF12",
"hgnc_id": 11623,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1894T>C",
"hgvs_p": "p.Leu632Leu"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}