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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: 1-155235762-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155235762&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM1",
"PM2",
"PP2",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GBA1",
"hgnc_id": 4177,
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"inheritance_mode": "AD,AR",
"pathogenic_score": 9,
"score": 9,
"transcript": "NM_000157.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP2,PP3_Strong",
"acmg_score": 9,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.5724,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.49,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9635306596755981,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000157.4",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000368373.8",
"protein_coding": true,
"protein_id": "NP_000148.2",
"strand": false,
"transcript": "NM_000157.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000368373.8",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000157.4",
"protein_coding": true,
"protein_id": "ENSP00000357357.3",
"strand": false,
"transcript": "ENST00000368373.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2387,
"cdna_start": 1540,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000327247.9",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000314508.5",
"strand": false,
"transcript": "ENST00000327247.9",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 558,
"aa_ref": "F",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 1565,
"cds_end": null,
"cds_length": 1677,
"cds_start": 1373,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948997.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1373T>C",
"hgvs_p": "p.Phe458Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619056.1",
"strand": false,
"transcript": "ENST00000948997.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 543,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852365.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522424.1",
"strand": false,
"transcript": "ENST00000852365.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 543,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1421,
"cds_end": null,
"cds_length": 1632,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000852367.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522426.1",
"strand": false,
"transcript": "ENST00000852367.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001005741.3",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005741.1",
"strand": false,
"transcript": "NM_001005741.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2325,
"cdna_start": 1478,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001005742.3",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001005742.1",
"strand": false,
"transcript": "NM_001005742.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2407,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852359.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522418.1",
"strand": false,
"transcript": "ENST00000852359.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2402,
"cdna_start": 1550,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852360.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522419.1",
"strand": false,
"transcript": "ENST00000852360.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 1539,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852361.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522420.1",
"strand": false,
"transcript": "ENST00000852361.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2518,
"cdna_start": 1668,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000852362.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522421.1",
"strand": false,
"transcript": "ENST00000852362.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": 1664,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000852363.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522422.1",
"strand": false,
"transcript": "ENST00000852363.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2488,
"cdna_start": 1641,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000852366.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522425.1",
"strand": false,
"transcript": "ENST00000852366.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 536,
"aa_ref": "F",
"aa_start": 436,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2507,
"cdna_start": 1661,
"cds_end": null,
"cds_length": 1611,
"cds_start": 1307,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000948996.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1307T>C",
"hgvs_p": "p.Phe436Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619055.1",
"strand": false,
"transcript": "ENST00000948996.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 535,
"aa_ref": "F",
"aa_start": 435,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2301,
"cdna_start": 1455,
"cds_end": null,
"cds_length": 1608,
"cds_start": 1304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948998.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1304T>C",
"hgvs_p": "p.Phe435Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619057.1",
"strand": false,
"transcript": "ENST00000948998.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 487,
"aa_ref": "F",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2144,
"cdna_start": 1297,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001171812.2",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1160T>C",
"hgvs_p": "p.Phe387Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165283.1",
"strand": false,
"transcript": "NM_001171812.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 487,
"aa_ref": "F",
"aa_start": 387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2063,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1464,
"cds_start": 1160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000427500.7",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1160T>C",
"hgvs_p": "p.Phe387Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000402577.2",
"strand": false,
"transcript": "ENST00000427500.7",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 449,
"aa_ref": "F",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2161,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001171811.2",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Phe349Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165282.1",
"strand": false,
"transcript": "NM_001171811.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 449,
"aa_ref": "F",
"aa_start": 349,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1817,
"cdna_start": 1386,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1046,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000428024.3",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
"hgvs_c": "c.1046T>C",
"hgvs_p": "p.Phe349Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397986.2",
"strand": false,
"transcript": "ENST00000428024.3",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 423,
"aa_ref": "F",
"aa_start": 323,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1272,
"cds_start": 968,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000852364.1",
"gene_hgnc_id": 4177,
"gene_symbol": "GBA1",
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]
}