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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: X-13662997-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13662997&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 13662997,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_152634.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "NM_001297563.2",
"protein_id": "NP_001284492.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": "ENST00000696128.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297563.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000696128.1",
"protein_id": "ENSP00000512421.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 3251,
"mane_select": "NM_001297563.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696128.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Ser193Ser",
"transcript": "NM_152634.4",
"protein_id": "NP_689847.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 381,
"cds_start": 579,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152634.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.579G>A",
"hgvs_p": "p.Ser193Ser",
"transcript": "ENST00000544987.3",
"protein_id": "ENSP00000440038.2",
"transcript_support_level": 5,
"aa_start": 193,
"aa_end": null,
"aa_length": 381,
"cds_start": 579,
"cds_end": null,
"cds_length": 1146,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 3214,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544987.3"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "NM_001297564.2",
"protein_id": "NP_001284493.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297564.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000380600.2",
"protein_id": "ENSP00000369974.1",
"transcript_support_level": 3,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 2803,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380600.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000490617.1",
"protein_id": "ENSP00000512415.1",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 2537,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000490617.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000696126.2",
"protein_id": "ENSP00000512419.2",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1033,
"cdna_end": null,
"cdna_length": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696126.2"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000696127.1",
"protein_id": "ENSP00000512420.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696127.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000696129.1",
"protein_id": "ENSP00000512422.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1090,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696129.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000696130.1",
"protein_id": "ENSP00000512423.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 888,
"cdna_end": null,
"cdna_length": 3266,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000696130.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000880871.1",
"protein_id": "ENSP00000550930.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 3279,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880871.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000880872.1",
"protein_id": "ENSP00000550931.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1131,
"cdna_end": null,
"cdna_length": 3430,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880872.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000880873.1",
"protein_id": "ENSP00000550932.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 782,
"cdna_end": null,
"cdna_length": 2539,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880873.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000880874.1",
"protein_id": "ENSP00000550933.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 923,
"cdna_end": null,
"cdna_length": 2680,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880874.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000880875.1",
"protein_id": "ENSP00000550934.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 839,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880875.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000880876.1",
"protein_id": "ENSP00000550935.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 2591,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000880876.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000934380.1",
"protein_id": "ENSP00000604439.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 2959,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934380.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000934381.1",
"protein_id": "ENSP00000604440.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 882,
"cdna_end": null,
"cdna_length": 3291,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934381.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000934382.1",
"protein_id": "ENSP00000604441.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 3309,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934382.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000934383.1",
"protein_id": "ENSP00000604442.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 3115,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934383.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TCEANC",
"gene_hgnc_id": 28277,
"hgvs_c": "c.489G>A",
"hgvs_p": "p.Ser163Ser",
"transcript": "ENST00000934384.1",
"protein_id": "ENSP00000604443.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 351,
"cds_start": 489,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 886,
"cdna_end": null,
"cdna_length": 2640,
"mane_select": null,
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"biotype": "protein_coding",
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -7,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -7,
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"pathogenic_score": 0,
"criteria": [
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"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_152634.4",
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"effects": [
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],
"inheritance_mode": "XL",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}