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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: 11-726470-G-GGCGC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=726470&ref=G&alt=GGCGC&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 726470,
"ref": "G",
"alt": "GGCGC",
"effect": "frameshift_variant",
"transcript": "NM_022772.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "NM_022772.4",
"protein_id": "NP_073609.2",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000318562.13",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022772.4"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000318562.13",
"protein_id": "ENSP00000320828.8",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022772.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318562.13"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1970_1971insGCGC",
"hgvs_p": "p.Phe658fs",
"transcript": "ENST00000526198.5",
"protein_id": "ENSP00000436230.1",
"transcript_support_level": 1,
"aa_start": 657,
"aa_end": null,
"aa_length": 731,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526198.5"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000530636.5",
"protein_id": "ENSP00000436035.1",
"transcript_support_level": 1,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530636.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "n.1338_1339insGCGC",
"hgvs_p": null,
"transcript": "ENST00000531393.5",
"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": "ENST00000531393.5"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000650127.1",
"protein_id": "ENSP00000497389.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 788,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000650127.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.2009_2010insGCGC",
"hgvs_p": "p.Phe671fs",
"transcript": "ENST00000856477.1",
"protein_id": "ENSP00000526536.1",
"transcript_support_level": null,
"aa_start": 670,
"aa_end": null,
"aa_length": 744,
"cds_start": 2010,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856477.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1970_1971insGCGC",
"hgvs_p": "p.Phe658fs",
"transcript": "ENST00000614442.4",
"protein_id": "ENSP00000480201.1",
"transcript_support_level": 5,
"aa_start": 657,
"aa_end": null,
"aa_length": 731,
"cds_start": 1971,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614442.4"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "NM_001441192.1",
"protein_id": "NP_001428121.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441192.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "NM_001441193.1",
"protein_id": "NP_001428122.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441193.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000533256.5",
"protein_id": "ENSP00000435585.1",
"transcript_support_level": 5,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533256.5"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856465.1",
"protein_id": "ENSP00000526524.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856465.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856466.1",
"protein_id": "ENSP00000526525.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856466.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856467.1",
"protein_id": "ENSP00000526526.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856467.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856469.1",
"protein_id": "ENSP00000526528.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856469.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856470.1",
"protein_id": "ENSP00000526529.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856470.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856471.1",
"protein_id": "ENSP00000526530.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856471.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856472.1",
"protein_id": "ENSP00000526531.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856472.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856473.1",
"protein_id": "ENSP00000526532.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856473.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856478.1",
"protein_id": "ENSP00000526537.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856478.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs",
"transcript": "ENST00000856479.1",
"protein_id": "ENSP00000526538.1",
"transcript_support_level": null,
"aa_start": 641,
"aa_end": null,
"aa_length": 715,
"cds_start": 1923,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856479.1"
},
{
"aa_ref": "A",
"aa_alt": "AR?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EPS8L2",
"gene_hgnc_id": 21296,
"hgvs_c": "c.1922_1923insGCGC",
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"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_022772.4",
"gene_symbol": "EPS8L2",
"hgnc_id": 21296,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1922_1923insGCGC",
"hgvs_p": "p.Phe642fs"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000527021.2",
"gene_symbol": "ENSG00000269915",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.72+505_72+506insGCGC",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}