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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: 15-57273196-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=57273196&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 57273196,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000333725.10",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1912C>G",
"hgvs_p": "p.Gln638Glu",
"transcript": "NM_207037.2",
"protein_id": "NP_996920.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 706,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": "ENST00000333725.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1912C>G",
"hgvs_p": "p.Gln638Glu",
"transcript": "ENST00000333725.10",
"protein_id": "ENSP00000331057.6",
"transcript_support_level": 1,
"aa_start": 638,
"aa_end": null,
"aa_length": 706,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 6114,
"mane_select": "NM_207037.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1840C>G",
"hgvs_p": "p.Gln614Glu",
"transcript": "ENST00000267811.9",
"protein_id": "ENSP00000267811.5",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 682,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2144,
"cdna_end": null,
"cdna_length": 6061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1840C>G",
"hgvs_p": "p.Gln614Glu",
"transcript": "ENST00000557843.5",
"protein_id": "ENSP00000453737.1",
"transcript_support_level": 1,
"aa_start": 614,
"aa_end": null,
"aa_length": 682,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 1927,
"cdna_end": null,
"cdna_length": 4076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1402C>G",
"hgvs_p": "p.Gln468Glu",
"transcript": "ENST00000543579.5",
"protein_id": "ENSP00000440017.1",
"transcript_support_level": 1,
"aa_start": 468,
"aa_end": null,
"aa_length": 536,
"cds_start": 1402,
"cds_end": null,
"cds_length": 1611,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 1809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1330C>G",
"hgvs_p": "p.Gln444Glu",
"transcript": "ENST00000343827.7",
"protein_id": "ENSP00000342459.3",
"transcript_support_level": 1,
"aa_start": 444,
"aa_end": null,
"aa_length": 512,
"cds_start": 1330,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 1386,
"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.569C>G",
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1912C>G",
"hgvs_p": "p.Gln638Glu",
"transcript": "NM_001322151.2",
"protein_id": "NP_001309080.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 706,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2201,
"cdna_end": null,
"cdna_length": 6118,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1912C>G",
"hgvs_p": "p.Gln638Glu",
"transcript": "NM_001322159.3",
"protein_id": "NP_001309088.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 706,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1912C>G",
"hgvs_p": "p.Gln638Glu",
"transcript": "NM_001322162.2",
"protein_id": "NP_001309091.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 706,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2076,
"cdna_end": null,
"cdna_length": 5993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1912C>G",
"hgvs_p": "p.Gln638Glu",
"transcript": "NM_207036.2",
"protein_id": "NP_996919.1",
"transcript_support_level": null,
"aa_start": 638,
"aa_end": null,
"aa_length": 706,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1912C>G",
"hgvs_p": "p.Gln638Glu",
"transcript": "ENST00000438423.6",
"protein_id": "ENSP00000388940.2",
"transcript_support_level": 5,
"aa_start": 638,
"aa_end": null,
"aa_length": 706,
"cds_start": 1912,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 2208,
"cdna_end": null,
"cdna_length": 4786,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1909C>G",
"hgvs_p": "p.Gln637Glu",
"transcript": "NM_001322152.2",
"protein_id": "NP_001309081.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 705,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2194,
"cdna_end": null,
"cdna_length": 6111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1909C>G",
"hgvs_p": "p.Gln637Glu",
"transcript": "NM_001322161.2",
"protein_id": "NP_001309090.1",
"transcript_support_level": null,
"aa_start": 637,
"aa_end": null,
"aa_length": 705,
"cds_start": 1909,
"cds_end": null,
"cds_length": 2118,
"cdna_start": 2073,
"cdna_end": null,
"cdna_length": 5990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1876C>G",
"hgvs_p": "p.Gln626Glu",
"transcript": "NM_001322164.2",
"protein_id": "NP_001309093.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 694,
"cds_start": 1876,
"cds_end": null,
"cds_length": 2085,
"cdna_start": 2345,
"cdna_end": null,
"cdna_length": 6262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1840C>G",
"hgvs_p": "p.Gln614Glu",
"transcript": "NM_001322157.3",
"protein_id": "NP_001309086.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 682,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 2827,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1840C>G",
"hgvs_p": "p.Gln614Glu",
"transcript": "NM_001322165.2",
"protein_id": "NP_001309094.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 682,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2309,
"cdna_end": null,
"cdna_length": 6226,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1840C>G",
"hgvs_p": "p.Gln614Glu",
"transcript": "NM_003205.4",
"protein_id": "NP_003196.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 682,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2125,
"cdna_end": null,
"cdna_length": 6042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1840C>G",
"hgvs_p": "p.Gln614Glu",
"transcript": "NM_207038.2",
"protein_id": "NP_996921.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 682,
"cds_start": 1840,
"cds_end": null,
"cds_length": 2049,
"cdna_start": 2115,
"cdna_end": null,
"cdna_length": 6032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1900C>G",
"hgvs_p": "p.Gln634Glu",
"transcript": "ENST00000559609.5",
"protein_id": "ENSP00000453876.1",
"transcript_support_level": 2,
"aa_start": 634,
"aa_end": null,
"aa_length": 665,
"cds_start": 1900,
"cds_end": null,
"cds_length": 1998,
"cdna_start": 2154,
"cdna_end": null,
"cdna_length": 2252,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1738C>G",
"hgvs_p": "p.Gln580Glu",
"transcript": "NM_001322156.2",
"protein_id": "NP_001309085.1",
"transcript_support_level": null,
"aa_start": 580,
"aa_end": null,
"aa_length": 648,
"cds_start": 1738,
"cds_end": null,
"cds_length": 1947,
"cdna_start": 2259,
"cdna_end": null,
"cdna_length": 6176,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1666C>G",
"hgvs_p": "p.Gln556Glu",
"transcript": "NM_001322158.2",
"protein_id": "NP_001309087.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 624,
"cds_start": 1666,
"cds_end": null,
"cds_length": 1875,
"cdna_start": 2187,
"cdna_end": null,
"cdna_length": 6104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_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.1402C>G",
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"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.*32C>G",
"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": "rs886037641",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9382938146591187,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.944,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7994,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.59,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.805,
"phylop100way_prediction": "Pathogenic",
"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": 5,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
"score": 5,
"benign_score": 0,
"pathogenic_score": 5,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000333725.10",
"gene_symbol": "TCF12",
"hgnc_id": 11623,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.1912C>G",
"hgvs_p": "p.Gln638Glu"
}
],
"clinvar_disease": "TCF12-related craniosynostosis",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "TCF12-related craniosynostosis",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}