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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: 15-70050190-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=70050190&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 70050190,
"ref": "C",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001438147.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2217G>C",
"hgvs_p": "p.Ser739Ser",
"transcript": "NM_001105192.3",
"protein_id": "NP_001098662.1",
"transcript_support_level": null,
"aa_start": 739,
"aa_end": null,
"aa_length": 769,
"cds_start": 2217,
"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": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2217G>C",
"hgvs_p": "p.Ser739Ser",
"transcript": "ENST00000451782.7",
"protein_id": "ENSP00000394717.3",
"transcript_support_level": 5,
"aa_start": 739,
"aa_end": null,
"aa_length": 769,
"cds_start": 2217,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2226G>C",
"hgvs_p": "p.Ser742Ser",
"transcript": "ENST00000558939.5",
"protein_id": "ENSP00000452871.1",
"transcript_support_level": 1,
"aa_start": 742,
"aa_end": null,
"aa_length": 772,
"cds_start": 2226,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2211G>C",
"hgvs_p": "p.Ser737Ser",
"transcript": "ENST00000558379.5",
"protein_id": "ENSP00000453435.1",
"transcript_support_level": 1,
"aa_start": 737,
"aa_end": null,
"aa_length": 767,
"cds_start": 2211,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2202G>C",
"hgvs_p": "p.Ser734Ser",
"transcript": "ENST00000557907.5",
"protein_id": "ENSP00000453107.1",
"transcript_support_level": 1,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2202G>C",
"hgvs_p": "p.Ser734Ser",
"transcript": "ENST00000557997.5",
"protein_id": "ENSP00000453083.1",
"transcript_support_level": 1,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2190G>C",
"hgvs_p": "p.Ser730Ser",
"transcript": "ENST00000317509.12",
"protein_id": "ENSP00000319233.8",
"transcript_support_level": 1,
"aa_start": 730,
"aa_end": null,
"aa_length": 760,
"cds_start": 2190,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2256G>C",
"hgvs_p": "p.Ser752Ser",
"transcript": "ENST00000559929.5",
"protein_id": "ENSP00000453081.1",
"transcript_support_level": 5,
"aa_start": 752,
"aa_end": null,
"aa_length": 782,
"cds_start": 2256,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2247G>C",
"hgvs_p": "p.Ser749Ser",
"transcript": "NM_001438147.1",
"protein_id": "NP_001425076.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 779,
"cds_start": 2247,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2247G>C",
"hgvs_p": "p.Ser749Ser",
"transcript": "ENST00000952208.1",
"protein_id": "ENSP00000622267.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 779,
"cds_start": 2247,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2244G>C",
"hgvs_p": "p.Ser748Ser",
"transcript": "ENST00000558201.5",
"protein_id": "ENSP00000452881.1",
"transcript_support_level": 5,
"aa_start": 748,
"aa_end": null,
"aa_length": 778,
"cds_start": 2244,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2232G>C",
"hgvs_p": "p.Ser744Ser",
"transcript": "NM_001438148.1",
"protein_id": "NP_001425077.1",
"transcript_support_level": null,
"aa_start": 744,
"aa_end": null,
"aa_length": 774,
"cds_start": 2232,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2232G>C",
"hgvs_p": "p.Ser744Ser",
"transcript": "ENST00000560939.5",
"protein_id": "ENSP00000452933.1",
"transcript_support_level": 5,
"aa_start": 744,
"aa_end": null,
"aa_length": 774,
"cds_start": 2232,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2226G>C",
"hgvs_p": "p.Ser742Ser",
"transcript": "NM_005078.4",
"protein_id": "NP_005069.2",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 772,
"cds_start": 2226,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2226G>C",
"hgvs_p": "p.Ser742Ser",
"transcript": "ENST00000559048.5",
"protein_id": "ENSP00000453760.1",
"transcript_support_level": 2,
"aa_start": 742,
"aa_end": null,
"aa_length": 772,
"cds_start": 2226,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2214G>C",
"hgvs_p": "p.Ser738Ser",
"transcript": "ENST00000952209.1",
"protein_id": "ENSP00000622268.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 768,
"cds_start": 2214,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2211G>C",
"hgvs_p": "p.Ser737Ser",
"transcript": "NM_001282980.2",
"protein_id": "NP_001269909.1",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 767,
"cds_start": 2211,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2208G>C",
"hgvs_p": "p.Ser736Ser",
"transcript": "NM_001438836.1",
"protein_id": "NP_001425765.1",
"transcript_support_level": null,
"aa_start": 736,
"aa_end": null,
"aa_length": 766,
"cds_start": 2208,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2202G>C",
"hgvs_p": "p.Ser734Ser",
"transcript": "NM_001282979.2",
"protein_id": "NP_001269908.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 764,
"cds_start": 2202,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2199G>C",
"hgvs_p": "p.Ser733Ser",
"transcript": "NM_001438837.1",
"protein_id": "NP_001425766.1",
"transcript_support_level": null,
"aa_start": 733,
"aa_end": null,
"aa_length": 763,
"cds_start": 2199,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2196G>C",
"hgvs_p": "p.Ser732Ser",
"transcript": "NM_001282981.2",
"protein_id": "NP_001269910.1",
"transcript_support_level": null,
"aa_start": 732,
"aa_end": null,
"aa_length": 762,
"cds_start": 2196,
"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": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TLE3",
"gene_hgnc_id": 11839,
"hgvs_c": "c.2196G>C",
"hgvs_p": "p.Ser732Ser",
"transcript": "ENST00000440567.7",
"protein_id": "ENSP00000415057.3",
"transcript_support_level": 2,
"aa_start": 732,
"aa_end": null,
"aa_length": 762,
"cds_start": 2196,
"cds_end": null,
"cds_length": 2289,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -5.733,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"acmg_score": -9,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4_Strong",
"BP7",
"BS2"
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"verdict": "Benign",
"transcript": "NM_001438147.1",
"gene_symbol": "TLE3",
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"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.2247G>C",
"hgvs_p": "p.Ser749Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}