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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: 17-39707056-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39707056&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERBB2",
"hgnc_id": 3430,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001382784.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_score": -20,
"allele_count_reference_population": 752,
"alphamissense_prediction": null,
"alphamissense_score": 0.0645,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.21,
"chr": "17",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2 O:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.008545517921447754,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3768,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_004448.4",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000269571.10",
"protein_coding": true,
"protein_id": "NP_004439.2",
"strand": true,
"transcript": "NM_004448.4",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1255,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4557,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3768,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000269571.10",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004448.4",
"protein_coding": true,
"protein_id": "ENSP00000269571.4",
"strand": true,
"transcript": "ENST00000269571.10",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1055,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3730,
"cdna_start": 355,
"cds_end": null,
"cds_length": 3168,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000584450.5",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463714.1",
"strand": true,
"transcript": "ENST00000584450.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 591,
"cds_end": null,
"cds_length": 1812,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000578199.5",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000462808.1",
"strand": true,
"transcript": "ENST00000578199.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 603,
"aa_ref": "R",
"aa_start": 17,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1812,
"cds_start": 50,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000584014.6",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.50G>A",
"hgvs_p": "p.Arg17His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521134.1",
"strand": true,
"transcript": "ENST00000584014.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000578373.5",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "n.140G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000463427.1",
"strand": true,
"transcript": "ENST00000578373.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1316,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000584908.5",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "n.152G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000584908.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3885,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382784.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369713.1",
"strand": true,
"transcript": "NM_001382784.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1294,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4674,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3885,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000578502.2",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000464420.2",
"strand": true,
"transcript": "ENST00000578502.2",
"transcript_support_level": 5
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1289,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4659,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3870,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382785.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369714.1",
"strand": true,
"transcript": "NM_001382785.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1289,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 314,
"cds_end": null,
"cds_length": 3870,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000938924.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608983.1",
"strand": true,
"transcript": "ENST00000938924.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1282,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4638,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3849,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382786.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369715.1",
"strand": true,
"transcript": "NM_001382786.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4632,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3843,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382787.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369716.1",
"strand": true,
"transcript": "NM_001382787.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1266,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4657,
"cdna_start": 388,
"cds_end": null,
"cds_length": 3801,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000959774.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629833.1",
"strand": true,
"transcript": "ENST00000959774.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4587,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3798,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382788.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369717.1",
"strand": true,
"transcript": "NM_001382788.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1265,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4556,
"cdna_start": 365,
"cds_end": null,
"cds_length": 3798,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863103.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533162.1",
"strand": true,
"transcript": "ENST00000863103.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1262,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4578,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3789,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382789.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369718.1",
"strand": true,
"transcript": "NM_001382789.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1254,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3765,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382790.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369719.1",
"strand": true,
"transcript": "NM_001382790.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1252,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4548,
"cdna_start": 315,
"cds_end": null,
"cds_length": 3759,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001382791.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369720.1",
"strand": true,
"transcript": "NM_001382791.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1252,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4676,
"cdna_start": 443,
"cds_end": null,
"cds_length": 3759,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863096.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533155.1",
"strand": true,
"transcript": "ENST00000863096.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 1245,
"aa_ref": "R",
"aa_start": 47,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4648,
"cdna_start": 432,
"cds_end": null,
"cds_length": 3738,
"cds_start": 140,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000863097.1",
"gene_hgnc_id": 3430,
"gene_symbol": "ERBB2",
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Arg47His",
"intron_rank": null,
"intron_rank_end": null,
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