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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: 1-155612910-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155612910&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155612910,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_018116.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "NM_018116.4",
"protein_id": "NP_060586.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 570,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245564.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018116.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "ENST00000245564.8",
"protein_id": "ENSP00000245564.3",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 570,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018116.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245564.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.928C>T",
"hgvs_p": "p.Arg310Cys",
"transcript": "ENST00000368341.8",
"protein_id": "ENSP00000357325.4",
"transcript_support_level": 2,
"aa_start": 310,
"aa_end": null,
"aa_length": 524,
"cds_start": 928,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368341.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "n.1155C>T",
"hgvs_p": null,
"transcript": "ENST00000483734.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000483734.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "n.*657C>T",
"hgvs_p": null,
"transcript": "ENST00000490743.5",
"protein_id": "ENSP00000476353.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490743.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "n.*657C>T",
"hgvs_p": null,
"transcript": "ENST00000490743.5",
"protein_id": "ENSP00000476353.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000490743.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1135C>T",
"hgvs_p": "p.Arg379Cys",
"transcript": "ENST00000863884.1",
"protein_id": "ENSP00000533943.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 604,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863884.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "NM_001256532.1",
"protein_id": "NP_001243461.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 569,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256532.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "ENST00000863883.1",
"protein_id": "ENSP00000533942.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 569,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863883.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1030C>T",
"hgvs_p": "p.Arg344Cys",
"transcript": "ENST00000933227.1",
"protein_id": "ENSP00000603286.1",
"transcript_support_level": null,
"aa_start": 344,
"aa_end": null,
"aa_length": 569,
"cds_start": 1030,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933227.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "NM_001350772.1",
"protein_id": "NP_001337701.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 559,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350772.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "NM_001256533.1",
"protein_id": "NP_001243462.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 558,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256533.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "NM_001350773.1",
"protein_id": "NP_001337702.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 558,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350773.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "ENST00000863886.1",
"protein_id": "ENSP00000533945.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 558,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1677,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863886.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "NM_001350774.1",
"protein_id": "NP_001337703.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 557,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350774.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "ENST00000649846.1",
"protein_id": "ENSP00000498188.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 557,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649846.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.991C>T",
"hgvs_p": "p.Arg331Cys",
"transcript": "ENST00000941778.1",
"protein_id": "ENSP00000611837.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 555,
"cds_start": 991,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941778.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.1033C>T",
"hgvs_p": "p.Arg345Cys",
"transcript": "NM_001350775.1",
"protein_id": "NP_001337704.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 554,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350775.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"transcript": "ENST00000863888.1",
"protein_id": "ENSP00000533947.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 553,
"cds_start": 982,
"cds_end": null,
"cds_length": 1662,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863888.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"transcript": "ENST00000933229.1",
"protein_id": "ENSP00000603288.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 552,
"cds_start": 982,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933229.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.982C>T",
"hgvs_p": "p.Arg328Cys",
"transcript": "ENST00000941779.1",
"protein_id": "ENSP00000611838.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 541,
"cds_start": 982,
"cds_end": null,
"cds_length": 1626,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000941779.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MSTO1",
"gene_hgnc_id": 29678,
"hgvs_c": "c.940C>T",
"hgvs_p": "p.Arg314Cys",
"transcript": "ENST00000863889.1",
"protein_id": "ENSP00000533948.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 539,
"cds_start": 940,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
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"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
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{
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],
"clinvar_disease": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome,not provided",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome|not provided",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}