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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: 1-225507964-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=225507964&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ENAH",
"hgnc_id": 18271,
"hgvs_c": "c.2266C>T",
"hgvs_p": "p.Pro756Ser",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001420159.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 3,
"alphamissense_prediction": null,
"alphamissense_score": 0.352,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.1,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2878543734550476,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 570,
"aa_ref": "P",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13092,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_018212.6",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Pro509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000366843.7",
"protein_coding": true,
"protein_id": "NP_060682.2",
"strand": false,
"transcript": "NM_018212.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 570,
"aa_ref": "P",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 13092,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1713,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000366843.7",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Pro509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018212.6",
"protein_coding": true,
"protein_id": "ENSP00000355808.2",
"strand": false,
"transcript": "ENST00000366843.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13168,
"cdna_start": 1977,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000366844.7",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Pro509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000355809.2",
"strand": false,
"transcript": "ENST00000366844.7",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 838,
"aa_ref": "P",
"aa_start": 756,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13896,
"cdna_start": 2699,
"cds_end": null,
"cds_length": 2517,
"cds_start": 2266,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001420159.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.2266C>T",
"hgvs_p": "p.Pro756Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001407088.1",
"strand": false,
"transcript": "NM_001420159.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 819,
"aa_ref": "P",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13839,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001420160.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Pro737Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001407089.1",
"strand": false,
"transcript": "NM_001420160.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 819,
"aa_ref": "P",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5231,
"cdna_start": 2662,
"cds_end": null,
"cds_length": 2460,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893225.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Pro737Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563284.1",
"strand": false,
"transcript": "ENST00000893225.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 818,
"aa_ref": "P",
"aa_start": 736,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5816,
"cdna_start": 2604,
"cds_end": null,
"cds_length": 2457,
"cds_start": 2206,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000931080.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.2206C>T",
"hgvs_p": "p.Pro736Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601139.1",
"strand": false,
"transcript": "ENST00000931080.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 802,
"aa_ref": "P",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3308,
"cdna_start": 2230,
"cds_end": null,
"cds_length": 2409,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000635051.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.2221C>T",
"hgvs_p": "p.Pro741Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000489607.1",
"strand": false,
"transcript": "ENST00000635051.1",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 798,
"aa_ref": "P",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13776,
"cdna_start": 2642,
"cds_end": null,
"cds_length": 2397,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001420161.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Pro737Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001407090.1",
"strand": false,
"transcript": "NM_001420161.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 798,
"aa_ref": "P",
"aa_start": 737,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5168,
"cdna_start": 2662,
"cds_end": null,
"cds_length": 2397,
"cds_start": 2209,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000893224.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.2209C>T",
"hgvs_p": "p.Pro737Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563283.1",
"strand": false,
"transcript": "ENST00000893224.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 739,
"aa_ref": "P",
"aa_start": 657,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5634,
"cdna_start": 2422,
"cds_end": null,
"cds_length": 2220,
"cds_start": 1969,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000931077.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1969C>T",
"hgvs_p": "p.Pro657Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601136.1",
"strand": false,
"transcript": "ENST00000931077.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 697,
"aa_ref": "P",
"aa_start": 615,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13127,
"cdna_start": 1866,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1843,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000696609.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1843C>T",
"hgvs_p": "p.Pro615Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000512753.1",
"strand": false,
"transcript": "ENST00000696609.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 610,
"aa_ref": "P",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13212,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 1833,
"cds_start": 1582,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001377481.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Pro528Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364410.1",
"strand": false,
"transcript": "NM_001377481.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 591,
"aa_ref": "P",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13155,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1776,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001008493.3",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Pro509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008493.1",
"strand": false,
"transcript": "NM_001008493.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 590,
"aa_ref": "P",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7176,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1773,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000931074.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Pro508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601133.1",
"strand": false,
"transcript": "ENST00000931074.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 589,
"aa_ref": "P",
"aa_start": 528,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13149,
"cdna_start": 2015,
"cds_end": null,
"cds_length": 1770,
"cds_start": 1582,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001377482.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1582C>T",
"hgvs_p": "p.Pro528Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001364411.1",
"strand": false,
"transcript": "NM_001377482.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 584,
"aa_ref": "P",
"aa_start": 509,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5134,
"cdna_start": 1945,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1525,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000931079.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1525C>T",
"hgvs_p": "p.Pro509Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601138.1",
"strand": false,
"transcript": "ENST00000931079.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 584,
"aa_ref": "P",
"aa_start": 502,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4125,
"cdna_start": 1957,
"cds_end": null,
"cds_length": 1755,
"cds_start": 1504,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000931081.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1504C>T",
"hgvs_p": "p.Pro502Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601140.1",
"strand": false,
"transcript": "ENST00000931081.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 574,
"aa_ref": "P",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 1965,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000893226.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1537C>T",
"hgvs_p": "p.Pro513Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000563285.1",
"strand": false,
"transcript": "ENST00000893226.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 569,
"aa_ref": "P",
"aa_start": 508,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5120,
"cdna_start": 1975,
"cds_end": null,
"cds_length": 1710,
"cds_start": 1522,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000931078.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1522C>T",
"hgvs_p": "p.Pro508Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601137.1",
"strand": false,
"transcript": "ENST00000931078.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 554,
"aa_ref": "P",
"aa_start": 472,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13044,
"cdna_start": 1847,
"cds_end": null,
"cds_length": 1665,
"cds_start": 1414,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001420162.1",
"gene_hgnc_id": 18271,
"gene_symbol": "ENAH",
"hgvs_c": "c.1414C>T",
"hgvs_p": "p.Pro472Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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