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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: 2-50053388-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=50053388&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "NRXN1",
"hgnc_id": 8008,
"hgvs_c": "c.4131G>C",
"hgvs_p": "p.Glu1377Asp",
"inheritance_mode": "Unknown,AR,AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_001135659.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 59,
"alphamissense_prediction": null,
"alphamissense_score": 0.0916,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.26,
"chr": "2",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Chromosome 2p16.3 deletion syndrome,Pitt-Hopkins-like syndrome 2,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:3 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0095672607421875,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "E",
"aa_start": 1337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9038,
"cdna_start": 5084,
"cds_end": null,
"cds_length": 4524,
"cds_start": 4011,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001330078.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4011G>C",
"hgvs_p": "p.Glu1337Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000401669.7",
"protein_coding": true,
"protein_id": "NP_001317007.1",
"strand": false,
"transcript": "NM_001330078.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1507,
"aa_ref": "E",
"aa_start": 1337,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9038,
"cdna_start": 5084,
"cds_end": null,
"cds_length": 4524,
"cds_start": 4011,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000401669.7",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4011G>C",
"hgvs_p": "p.Glu1337Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001330078.2",
"protein_coding": true,
"protein_id": "ENSP00000385017.2",
"strand": false,
"transcript": "ENST00000401669.7",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "E",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7578,
"cdna_start": 5471,
"cds_end": null,
"cds_length": 4644,
"cds_start": 4131,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000404971.5",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4131G>C",
"hgvs_p": "p.Glu1377Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385142.1",
"strand": false,
"transcript": "ENST00000404971.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "E",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8113,
"cdna_start": 4170,
"cds_end": null,
"cds_length": 4491,
"cds_start": 3987,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000625672.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Glu1329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485887.1",
"strand": false,
"transcript": "ENST00000625672.2",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 442,
"aa_ref": "E",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3315,
"cdna_start": 1621,
"cds_end": null,
"cds_length": 1329,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000342183.9",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.816G>C",
"hgvs_p": "p.Glu272Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000341184.5",
"strand": false,
"transcript": "ENST00000342183.9",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1547,
"aa_ref": "E",
"aa_start": 1377,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9158,
"cdna_start": 5204,
"cds_end": null,
"cds_length": 4644,
"cds_start": 4131,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "NM_001135659.3",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4131G>C",
"hgvs_p": "p.Glu1377Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001129131.1",
"strand": false,
"transcript": "NM_001135659.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1506,
"aa_ref": "E",
"aa_start": 1336,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9035,
"cdna_start": 5081,
"cds_end": null,
"cds_length": 4521,
"cds_start": 4008,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001330093.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4008G>C",
"hgvs_p": "p.Glu1336Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317022.1",
"strand": false,
"transcript": "NM_001330093.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1504,
"aa_ref": "E",
"aa_start": 1337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9029,
"cdna_start": 5084,
"cds_end": null,
"cds_length": 4515,
"cds_start": 4011,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "NM_001330086.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.4011G>C",
"hgvs_p": "p.Glu1337Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317015.1",
"strand": false,
"transcript": "NM_001330086.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1500,
"aa_ref": "E",
"aa_start": 1333,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9017,
"cdna_start": 5072,
"cds_end": null,
"cds_length": 4503,
"cds_start": 3999,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001330094.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3999G>C",
"hgvs_p": "p.Glu1333Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317023.1",
"strand": false,
"transcript": "NM_001330094.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "E",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9014,
"cdna_start": 5060,
"cds_end": null,
"cds_length": 4500,
"cds_start": 3987,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001330077.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Glu1329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317006.1",
"strand": false,
"transcript": "NM_001330077.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1499,
"aa_ref": "E",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4500,
"cdna_start": 3987,
"cds_end": null,
"cds_length": 4500,
"cds_start": 3987,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000630543.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Glu1329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486879.1",
"strand": false,
"transcript": "ENST00000630543.2",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1498,
"aa_ref": "E",
"aa_start": 1328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9011,
"cdna_start": 5057,
"cds_end": null,
"cds_length": 4497,
"cds_start": 3984,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001330085.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3984G>C",
"hgvs_p": "p.Glu1328Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317014.1",
"strand": false,
"transcript": "NM_001330085.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1496,
"aa_ref": "E",
"aa_start": 1329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9005,
"cdna_start": 5060,
"cds_end": null,
"cds_length": 4491,
"cds_start": 3987,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_001330082.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3987G>C",
"hgvs_p": "p.Glu1329Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317011.1",
"strand": false,
"transcript": "NM_001330082.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1495,
"aa_ref": "E",
"aa_start": 1325,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5724,
"cdna_start": 5030,
"cds_end": null,
"cds_length": 4488,
"cds_start": 3975,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 19,
"exon_rank_end": null,
"feature": "ENST00000405472.7",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3975G>C",
"hgvs_p": "p.Glu1325Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434015.2",
"strand": false,
"transcript": "ENST00000405472.7",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1485,
"aa_ref": "E",
"aa_start": 1315,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8972,
"cdna_start": 5018,
"cds_end": null,
"cds_length": 4458,
"cds_start": 3945,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001330084.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3945G>C",
"hgvs_p": "p.Glu1315Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317013.1",
"strand": false,
"transcript": "NM_001330084.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "E",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8948,
"cdna_start": 4994,
"cds_end": null,
"cds_length": 4434,
"cds_start": 3921,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "NM_004801.6",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3921G>C",
"hgvs_p": "p.Glu1307Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004792.1",
"strand": false,
"transcript": "NM_004801.6",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1477,
"aa_ref": "E",
"aa_start": 1307,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9375,
"cdna_start": 5423,
"cds_end": null,
"cds_length": 4434,
"cds_start": 3921,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 20,
"exon_rank_end": null,
"feature": "ENST00000406316.6",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3921G>C",
"hgvs_p": "p.Glu1307Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384311.2",
"strand": false,
"transcript": "ENST00000406316.6",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1460,
"aa_ref": "E",
"aa_start": 1290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8897,
"cdna_start": 4943,
"cds_end": null,
"cds_length": 4383,
"cds_start": 3870,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "NM_001330095.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3870G>C",
"hgvs_p": "p.Glu1290Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317024.1",
"strand": false,
"transcript": "NM_001330095.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1452,
"aa_ref": "E",
"aa_start": 1285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8873,
"cdna_start": 4928,
"cds_end": null,
"cds_length": 4359,
"cds_start": 3855,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001330083.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3855G>C",
"hgvs_p": "p.Glu1285Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317012.1",
"strand": false,
"transcript": "NM_001330083.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1447,
"aa_ref": "E",
"aa_start": 1280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8858,
"cdna_start": 4913,
"cds_end": null,
"cds_length": 4344,
"cds_start": 3840,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001330088.2",
"gene_hgnc_id": 8008,
"gene_symbol": "NRXN1",
"hgvs_c": "c.3840G>C",
"hgvs_p": "p.Glu1280Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317017.1",
"strand": false,
"transcript": "NM_001330088.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "E",
"aa_start": 1270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8837,
"cdna_start": 4883,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3810,
"consequences": [
"missense_variant"
],
"exon_count": 17,
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