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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: 17-16039571-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=16039571&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 16039571,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001439111.1",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6817G>A",
"hgvs_p": "p.Gly2273Arg",
"transcript": "NM_006311.4",
"protein_id": "NP_006302.2",
"transcript_support_level": null,
"aa_start": 2273,
"aa_end": null,
"aa_length": 2440,
"cds_start": 6817,
"cds_end": null,
"cds_length": 7323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000268712.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006311.4"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6817G>A",
"hgvs_p": "p.Gly2273Arg",
"transcript": "ENST00000268712.8",
"protein_id": "ENSP00000268712.2",
"transcript_support_level": 1,
"aa_start": 2273,
"aa_end": null,
"aa_length": 2440,
"cds_start": 6817,
"cds_end": null,
"cds_length": 7323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006311.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000268712.8"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.7039G>A",
"hgvs_p": "p.Gly2347Arg",
"transcript": "ENST00000436068.2",
"protein_id": "ENSP00000389839.2",
"transcript_support_level": 1,
"aa_start": 2347,
"aa_end": null,
"aa_length": 2514,
"cds_start": 7039,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436068.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6508G>A",
"hgvs_p": "p.Gly2170Arg",
"transcript": "ENST00000395851.5",
"protein_id": "ENSP00000379192.1",
"transcript_support_level": 1,
"aa_start": 2170,
"aa_end": null,
"aa_length": 2337,
"cds_start": 6508,
"cds_end": null,
"cds_length": 7014,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395851.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "n.1079G>A",
"hgvs_p": null,
"transcript": "ENST00000464381.5",
"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": "retained_intron",
"feature": "ENST00000464381.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "n.2592G>A",
"hgvs_p": null,
"transcript": "ENST00000470782.5",
"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": "retained_intron",
"feature": "ENST00000470782.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.7069G>A",
"hgvs_p": "p.Gly2357Arg",
"transcript": "ENST00000917643.1",
"protein_id": "ENSP00000587702.1",
"transcript_support_level": null,
"aa_start": 2357,
"aa_end": null,
"aa_length": 2524,
"cds_start": 7069,
"cds_end": null,
"cds_length": 7575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917643.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.7066G>A",
"hgvs_p": "p.Gly2356Arg",
"transcript": "ENST00000917649.1",
"protein_id": "ENSP00000587708.1",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2523,
"cds_start": 7066,
"cds_end": null,
"cds_length": 7572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917649.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.7039G>A",
"hgvs_p": "p.Gly2347Arg",
"transcript": "NM_001439111.1",
"protein_id": "NP_001426040.1",
"transcript_support_level": null,
"aa_start": 2347,
"aa_end": null,
"aa_length": 2514,
"cds_start": 7039,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439111.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.7039G>A",
"hgvs_p": "p.Gly2347Arg",
"transcript": "ENST00000704744.1",
"protein_id": "ENSP00000516021.1",
"transcript_support_level": null,
"aa_start": 2347,
"aa_end": null,
"aa_length": 2514,
"cds_start": 7039,
"cds_end": null,
"cds_length": 7545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704744.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.7018G>A",
"hgvs_p": "p.Gly2340Arg",
"transcript": "ENST00000917655.1",
"protein_id": "ENSP00000587714.1",
"transcript_support_level": null,
"aa_start": 2340,
"aa_end": null,
"aa_length": 2507,
"cds_start": 7018,
"cds_end": null,
"cds_length": 7524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917655.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6910G>A",
"hgvs_p": "p.Gly2304Arg",
"transcript": "ENST00000917645.1",
"protein_id": "ENSP00000587704.1",
"transcript_support_level": null,
"aa_start": 2304,
"aa_end": null,
"aa_length": 2471,
"cds_start": 6910,
"cds_end": null,
"cds_length": 7416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917645.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6895G>A",
"hgvs_p": "p.Gly2299Arg",
"transcript": "NM_001439112.1",
"protein_id": "NP_001426041.1",
"transcript_support_level": null,
"aa_start": 2299,
"aa_end": null,
"aa_length": 2466,
"cds_start": 6895,
"cds_end": null,
"cds_length": 7401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439112.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6895G>A",
"hgvs_p": "p.Gly2299Arg",
"transcript": "ENST00000704745.1",
"protein_id": "ENSP00000516022.1",
"transcript_support_level": null,
"aa_start": 2299,
"aa_end": null,
"aa_length": 2466,
"cds_start": 6895,
"cds_end": null,
"cds_length": 7401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704745.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6895G>A",
"hgvs_p": "p.Gly2299Arg",
"transcript": "ENST00000917656.1",
"protein_id": "ENSP00000587715.1",
"transcript_support_level": null,
"aa_start": 2299,
"aa_end": null,
"aa_length": 2466,
"cds_start": 6895,
"cds_end": null,
"cds_length": 7401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917656.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6892G>A",
"hgvs_p": "p.Gly2298Arg",
"transcript": "ENST00000917644.1",
"protein_id": "ENSP00000587703.1",
"transcript_support_level": null,
"aa_start": 2298,
"aa_end": null,
"aa_length": 2465,
"cds_start": 6892,
"cds_end": null,
"cds_length": 7398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917644.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6892G>A",
"hgvs_p": "p.Gly2298Arg",
"transcript": "ENST00000917650.1",
"protein_id": "ENSP00000587709.1",
"transcript_support_level": null,
"aa_start": 2298,
"aa_end": null,
"aa_length": 2465,
"cds_start": 6892,
"cds_end": null,
"cds_length": 7398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917650.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6889G>A",
"hgvs_p": "p.Gly2297Arg",
"transcript": "NM_001439113.1",
"protein_id": "NP_001426042.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 2464,
"cds_start": 6889,
"cds_end": null,
"cds_length": 7395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439113.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6889G>A",
"hgvs_p": "p.Gly2297Arg",
"transcript": "ENST00000917654.1",
"protein_id": "ENSP00000587713.1",
"transcript_support_level": null,
"aa_start": 2297,
"aa_end": null,
"aa_length": 2464,
"cds_start": 6889,
"cds_end": null,
"cds_length": 7395,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917654.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6868G>A",
"hgvs_p": "p.Gly2290Arg",
"transcript": "NM_001439114.1",
"protein_id": "NP_001426043.1",
"transcript_support_level": null,
"aa_start": 2290,
"aa_end": null,
"aa_length": 2457,
"cds_start": 6868,
"cds_end": null,
"cds_length": 7374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001439114.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6868G>A",
"hgvs_p": "p.Gly2290Arg",
"transcript": "ENST00000917647.1",
"protein_id": "ENSP00000587706.1",
"transcript_support_level": null,
"aa_start": 2290,
"aa_end": null,
"aa_length": 2457,
"cds_start": 6868,
"cds_end": null,
"cds_length": 7374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917647.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NCOR1",
"gene_hgnc_id": 7672,
"hgvs_c": "c.6865G>A",
"hgvs_p": "p.Gly2289Arg",
"transcript": "NM_001439115.1",
"protein_id": "NP_001426044.1",
"transcript_support_level": null,
"aa_start": 2289,
"aa_end": null,
"aa_length": 2456,
"cds_start": 6865,
"cds_end": null,
"cds_length": 7371,
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"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001439111.1",
"gene_symbol": "NCOR1",
"hgnc_id": 7672,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.7039G>A",
"hgvs_p": "p.Gly2347Arg"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000470649.1",
"gene_symbol": "TTC19",
"hgnc_id": 26006,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.248-4932C>T",
"hgvs_p": null
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}