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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-21426508-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=21426508&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 21426508,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014927.5",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "NM_014927.5",
"protein_id": "NP_055742.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1034,
"cds_start": 76,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000379510.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014927.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000379510.5",
"protein_id": "ENSP00000368824.3",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 1034,
"cds_start": 76,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014927.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379510.5"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000425654.7",
"protein_id": "ENSP00000397906.2",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 1004,
"cds_start": 76,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000425654.7"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000279451.9",
"protein_id": "ENSP00000279451.5",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 868,
"cds_start": 76,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000279451.9"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000644295.1",
"protein_id": "ENSP00000495501.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1009,
"cds_start": 76,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644295.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "NM_001168647.3",
"protein_id": "NP_001162118.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 1004,
"cds_start": 76,
"cds_end": null,
"cds_length": 3015,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168647.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "NM_001330770.2",
"protein_id": "NP_001317699.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 985,
"cds_start": 76,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330770.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000644585.1",
"protein_id": "ENSP00000495954.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 985,
"cds_start": 76,
"cds_end": null,
"cds_length": 2958,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644585.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "NM_001330772.2",
"protein_id": "NP_001317701.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 955,
"cds_start": 76,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330772.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000645245.1",
"protein_id": "ENSP00000495695.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 955,
"cds_start": 76,
"cds_end": null,
"cds_length": 2868,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645245.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "NM_001168648.3",
"protein_id": "NP_001162119.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 898,
"cds_start": 76,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168648.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000642359.1",
"protein_id": "ENSP00000496709.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 898,
"cds_start": 76,
"cds_end": null,
"cds_length": 2697,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642359.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "NM_001330773.2",
"protein_id": "NP_001317702.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 868,
"cds_start": 76,
"cds_end": null,
"cds_length": 2607,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330773.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "NM_001168649.3",
"protein_id": "NP_001162120.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 849,
"cds_start": 76,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001168649.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000543067.6",
"protein_id": "ENSP00000444633.1",
"transcript_support_level": 2,
"aa_start": 26,
"aa_end": null,
"aa_length": 849,
"cds_start": 76,
"cds_end": null,
"cds_length": 2550,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543067.6"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "NM_001330771.2",
"protein_id": "NP_001317700.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 819,
"cds_start": 76,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330771.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000645791.1",
"protein_id": "ENSP00000494906.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 819,
"cds_start": 76,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645791.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000643220.1",
"protein_id": "ENSP00000495012.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 815,
"cds_start": 76,
"cds_end": null,
"cds_length": 2448,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643220.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000645074.1",
"protein_id": "ENSP00000496573.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 681,
"cds_start": 76,
"cds_end": null,
"cds_length": 2046,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000645074.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000643841.1",
"protein_id": "ENSP00000494416.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 302,
"cds_start": 76,
"cds_end": null,
"cds_length": 909,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643841.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.76T>C",
"hgvs_p": "p.Cys26Arg",
"transcript": "ENST00000644798.1",
"protein_id": "ENSP00000494983.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 300,
"cds_start": 76,
"cds_end": null,
"cds_length": 903,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644798.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CNKSR2",
"gene_hgnc_id": 19701,
"hgvs_c": "c.-609T>C",
"hgvs_p": null,
"transcript": "ENST00000642501.1",
"protein_id": "ENSP00000495189.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 591,
"cds_start": null,
"cds_end": null,
"cds_length": 1776,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"verdict": "Uncertain_significance",
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Intellectual disability, X-linked, syndromic, Houge type",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}