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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: 15-70056320-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70056320&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70056320,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001438147.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1306G>T",
"hgvs_p": "p.Ala436Ser",
"transcript": "NM_001105192.3",
"protein_id": "NP_001098662.1",
"transcript_support_level": null,
"aa_start": 436,
"aa_end": null,
"aa_length": 769,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451782.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105192.3"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1306G>T",
"hgvs_p": "p.Ala436Ser",
"transcript": "ENST00000451782.7",
"protein_id": "ENSP00000394717.3",
"transcript_support_level": 5,
"aa_start": 436,
"aa_end": null,
"aa_length": 769,
"cds_start": 1306,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105192.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451782.7"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Ala439Ser",
"transcript": "ENST00000558939.5",
"protein_id": "ENSP00000452871.1",
"transcript_support_level": 1,
"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": "ENST00000558939.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1300G>T",
"hgvs_p": "p.Ala434Ser",
"transcript": "ENST00000558379.5",
"protein_id": "ENSP00000453435.1",
"transcript_support_level": 1,
"aa_start": 434,
"aa_end": null,
"aa_length": 767,
"cds_start": 1300,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558379.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1291G>T",
"hgvs_p": "p.Ala431Ser",
"transcript": "ENST00000557907.5",
"protein_id": "ENSP00000453107.1",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 764,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557907.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1291G>T",
"hgvs_p": "p.Ala431Ser",
"transcript": "ENST00000557997.5",
"protein_id": "ENSP00000453083.1",
"transcript_support_level": 1,
"aa_start": 431,
"aa_end": null,
"aa_length": 764,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557997.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1279G>T",
"hgvs_p": "p.Ala427Ser",
"transcript": "ENST00000317509.12",
"protein_id": "ENSP00000319233.8",
"transcript_support_level": 1,
"aa_start": 427,
"aa_end": null,
"aa_length": 760,
"cds_start": 1279,
"cds_end": null,
"cds_length": 2283,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317509.12"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1345G>T",
"hgvs_p": "p.Ala449Ser",
"transcript": "ENST00000559929.5",
"protein_id": "ENSP00000453081.1",
"transcript_support_level": 5,
"aa_start": 449,
"aa_end": null,
"aa_length": 782,
"cds_start": 1345,
"cds_end": null,
"cds_length": 2349,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559929.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1336G>T",
"hgvs_p": "p.Ala446Ser",
"transcript": "NM_001438147.1",
"protein_id": "NP_001425076.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 779,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438147.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1336G>T",
"hgvs_p": "p.Ala446Ser",
"transcript": "ENST00000952208.1",
"protein_id": "ENSP00000622267.1",
"transcript_support_level": null,
"aa_start": 446,
"aa_end": null,
"aa_length": 779,
"cds_start": 1336,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952208.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1333G>T",
"hgvs_p": "p.Ala445Ser",
"transcript": "ENST00000558201.5",
"protein_id": "ENSP00000452881.1",
"transcript_support_level": 5,
"aa_start": 445,
"aa_end": null,
"aa_length": 778,
"cds_start": 1333,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558201.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1321G>T",
"hgvs_p": "p.Ala441Ser",
"transcript": "NM_001438148.1",
"protein_id": "NP_001425077.1",
"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_001438148.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1321G>T",
"hgvs_p": "p.Ala441Ser",
"transcript": "ENST00000560939.5",
"protein_id": "ENSP00000452933.1",
"transcript_support_level": 5,
"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": "ENST00000560939.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Ala439Ser",
"transcript": "NM_005078.4",
"protein_id": "NP_005069.2",
"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_005078.4"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1315G>T",
"hgvs_p": "p.Ala439Ser",
"transcript": "ENST00000559048.5",
"protein_id": "ENSP00000453760.1",
"transcript_support_level": 2,
"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": "ENST00000559048.5"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1303G>T",
"hgvs_p": "p.Ala435Ser",
"transcript": "ENST00000952209.1",
"protein_id": "ENSP00000622268.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 768,
"cds_start": 1303,
"cds_end": null,
"cds_length": 2307,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952209.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1300G>T",
"hgvs_p": "p.Ala434Ser",
"transcript": "NM_001282980.2",
"protein_id": "NP_001269909.1",
"transcript_support_level": null,
"aa_start": 434,
"aa_end": null,
"aa_length": 767,
"cds_start": 1300,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282980.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1297G>T",
"hgvs_p": "p.Ala433Ser",
"transcript": "NM_001438836.1",
"protein_id": "NP_001425765.1",
"transcript_support_level": null,
"aa_start": 433,
"aa_end": null,
"aa_length": 766,
"cds_start": 1297,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438836.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1291G>T",
"hgvs_p": "p.Ala431Ser",
"transcript": "NM_001282979.2",
"protein_id": "NP_001269908.1",
"transcript_support_level": null,
"aa_start": 431,
"aa_end": null,
"aa_length": 764,
"cds_start": 1291,
"cds_end": null,
"cds_length": 2295,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282979.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1288G>T",
"hgvs_p": "p.Ala430Ser",
"transcript": "NM_001438837.1",
"protein_id": "NP_001425766.1",
"transcript_support_level": null,
"aa_start": 430,
"aa_end": null,
"aa_length": 763,
"cds_start": 1288,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438837.1"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1285G>T",
"hgvs_p": "p.Ala429Ser",
"transcript": "NM_001282981.2",
"protein_id": "NP_001269910.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 762,
"cds_start": 1285,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282981.2"
},
{
"aa_ref": "A",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.1285G>T",
"hgvs_p": "p.Ala429Ser",
"transcript": "ENST00000440567.7",
"protein_id": "ENSP00000415057.3",
"transcript_support_level": 2,
"aa_start": 429,
"aa_end": null,
"aa_length": 762,
"cds_start": 1285,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "ENST00000654081.1"
}
],
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"dbsnp": "rs764899809",
"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": 0.0824226438999176,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.0669,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.865,
"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_001438147.1",
"gene_symbol": "TLE3",
"hgnc_id": 11839,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1336G>T",
"hgvs_p": "p.Ala446Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}