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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: 8-31640208-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=31640208&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 31640208,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_013962.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Leu75Pro",
"transcript": "ENST00000520407.5",
"protein_id": "ENSP00000434640.1",
"transcript_support_level": 1,
"aa_start": 75,
"aa_end": null,
"aa_length": 422,
"cds_start": 224,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Leu75Pro",
"transcript": "NM_013962.3",
"protein_id": "NP_039256.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 422,
"cds_start": 224,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Leu75Pro",
"transcript": "XM_011544512.3",
"protein_id": "XP_011542814.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 860,
"cds_start": 224,
"cds_end": null,
"cds_length": 2583,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 12667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Leu75Pro",
"transcript": "XM_017013367.2",
"protein_id": "XP_016868856.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 826,
"cds_start": 224,
"cds_end": null,
"cds_length": 2481,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 12565,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Leu75Pro",
"transcript": "XM_017013371.3",
"protein_id": "XP_016868860.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 677,
"cds_start": 224,
"cds_end": null,
"cds_length": 2034,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Leu75Pro",
"transcript": "XM_017013372.3",
"protein_id": "XP_016868861.2",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 674,
"cds_start": 224,
"cds_end": null,
"cds_length": 2025,
"cdna_start": 664,
"cdna_end": null,
"cdna_length": 2484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.37+777T>C",
"hgvs_p": null,
"transcript": "NM_001159999.3",
"protein_id": "NP_001153471.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.37+777T>C",
"hgvs_p": null,
"transcript": "ENST00000650866.1",
"protein_id": "ENSP00000499045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 624,
"cds_start": -4,
"cds_end": null,
"cds_length": 1875,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.37+777T>C",
"hgvs_p": null,
"transcript": "NM_001159995.3",
"protein_id": "NP_001153467.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.37+777T>C",
"hgvs_p": null,
"transcript": "ENST00000652698.1",
"protein_id": "ENSP00000499008.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 607,
"cds_start": -4,
"cds_end": null,
"cds_length": 1824,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.37+777T>C",
"hgvs_p": null,
"transcript": "NM_001160001.3",
"protein_id": "NP_001153473.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.37+777T>C",
"hgvs_p": null,
"transcript": "ENST00000519301.6",
"protein_id": "ENSP00000429582.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-556+777T>C",
"hgvs_p": null,
"transcript": "NM_001322201.2",
"protein_id": "NP_001309130.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-505+777T>C",
"hgvs_p": null,
"transcript": "NM_001322202.2",
"protein_id": "NP_001309131.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": -4,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 11484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.37+777T>C",
"hgvs_p": null,
"transcript": "ENST00000651149.1",
"protein_id": "ENSP00000498375.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 154,
"cds_start": -4,
"cds_end": null,
"cds_length": 466,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "n.37+777T>C",
"hgvs_p": null,
"transcript": "ENST00000650856.1",
"protein_id": "ENSP00000498216.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302325",
"gene_hgnc_id": null,
"hgvs_c": "n.223+322A>G",
"hgvs_p": null,
"transcript": "ENST00000785819.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 480,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"hgvs_c": "c.-218T>C",
"hgvs_p": null,
"transcript": "ENST00000523534.5",
"protein_id": "ENSP00000429067.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 713,
"cds_start": -4,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "NRG1",
"gene_hgnc_id": 7997,
"dbsnp": "rs199941564",
"frequency_reference_population": 0.00033513558,
"hom_count_reference_population": 6,
"allele_count_reference_population": 391,
"gnomad_exomes_af": 0.000288677,
"gnomad_genomes_af": 0.000654283,
"gnomad_exomes_ac": 294,
"gnomad_genomes_ac": 97,
"gnomad_exomes_homalt": 6,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.014338701963424683,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": 0.135,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.267,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1,BS2",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_013962.3",
"gene_symbol": "NRG1",
"hgnc_id": 7997,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.224T>C",
"hgvs_p": "p.Leu75Pro"
},
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000785819.1",
"gene_symbol": "ENSG00000302325",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.223+322A>G",
"hgvs_p": null
}
],
"clinvar_disease": "NRG1-related disorder",
"clinvar_classification": "Benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "NRG1-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}