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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-13663403-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=13663403&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TCEANC",
"hgnc_id": 28277,
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329Cys",
"inheritance_mode": "XL",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_152634.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_score": -4,
"allele_count_reference_population": 40,
"alphamissense_prediction": null,
"alphamissense_score": 0.1575,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "X",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5244447588920593,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001297563.2",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000696128.1",
"protein_coding": true,
"protein_id": "NP_001284492.1",
"strand": true,
"transcript": "NM_001297563.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3251,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696128.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001297563.2",
"protein_coding": true,
"protein_id": "ENSP00000512421.1",
"strand": true,
"transcript": "ENST00000696128.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3283,
"cdna_start": 1277,
"cds_end": null,
"cds_length": 1146,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_152634.4",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689847.2",
"strand": true,
"transcript": "NM_152634.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 381,
"aa_ref": "R",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 1232,
"cds_end": null,
"cds_length": 1146,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000544987.3",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.985C>T",
"hgvs_p": "p.Arg329Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440038.2",
"strand": true,
"transcript": "ENST00000544987.3",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3042,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001297564.2",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284493.1",
"strand": true,
"transcript": "NM_001297564.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2803,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000380600.2",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369974.1",
"strand": true,
"transcript": "ENST00000380600.2",
"transcript_support_level": 3
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2537,
"cdna_start": 1112,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000490617.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512415.1",
"strand": true,
"transcript": "ENST00000490617.1",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1600,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696126.2",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512419.2",
"strand": true,
"transcript": "ENST00000696126.2",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000696127.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512420.1",
"strand": true,
"transcript": "ENST00000696127.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2830,
"cdna_start": 1496,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696129.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512422.1",
"strand": true,
"transcript": "ENST00000696129.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": 1294,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000696130.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512423.1",
"strand": true,
"transcript": "ENST00000696130.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3279,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880871.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550930.1",
"strand": true,
"transcript": "ENST00000880871.1",
"transcript_support_level": null
},
{
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"aa_length": 351,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3430,
"cdna_start": 1537,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880872.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550931.1",
"strand": true,
"transcript": "ENST00000880872.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2539,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880873.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550932.1",
"strand": true,
"transcript": "ENST00000880873.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2680,
"cdna_start": 1329,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000880874.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550933.1",
"strand": true,
"transcript": "ENST00000880874.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3136,
"cdna_start": 1245,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000880875.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550934.1",
"strand": true,
"transcript": "ENST00000880875.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2591,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000880876.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000550935.1",
"strand": true,
"transcript": "ENST00000880876.1",
"transcript_support_level": null
},
{
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"aa_ref": "R",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2959,
"cdna_start": 954,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000934380.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604439.1",
"strand": true,
"transcript": "ENST00000934380.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 351,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3291,
"cdna_start": 1288,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934381.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604440.1",
"strand": true,
"transcript": "ENST00000934381.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3309,
"cdna_start": 1308,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934382.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
"hgvs_p": "p.Arg299Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604441.1",
"strand": true,
"transcript": "ENST00000934382.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 351,
"aa_ref": "R",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3115,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1056,
"cds_start": 895,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934383.1",
"gene_hgnc_id": 28277,
"gene_symbol": "TCEANC",
"hgvs_c": "c.895C>T",
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