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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: 17-39715782-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39715782&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39715782,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000269571.10",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_004448.4",
"protein_id": "NP_004439.2",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1255,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "ENST00000269571.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "ENST00000269571.10",
"protein_id": "ENSP00000269571.4",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 1255,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "NM_004448.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "ENST00000584450.5",
"protein_id": "ENSP00000463714.1",
"transcript_support_level": 1,
"aa_start": 452,
"aa_end": null,
"aa_length": 1055,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1571,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1266G>A",
"hgvs_p": "p.Trp422*",
"transcript": "ENST00000578199.5",
"protein_id": "ENSP00000462808.1",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 603,
"cds_start": 1266,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1807,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*1146G>A",
"hgvs_p": null,
"transcript": "ENST00000578373.5",
"protein_id": "ENSP00000463427.1",
"transcript_support_level": 1,
"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": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*1146G>A",
"hgvs_p": null,
"transcript": "ENST00000578373.5",
"protein_id": "ENSP00000463427.1",
"transcript_support_level": 1,
"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": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1473G>A",
"hgvs_p": "p.Trp491*",
"transcript": "NM_001382784.1",
"protein_id": "NP_001369713.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 1294,
"cds_start": 1473,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_001382785.1",
"protein_id": "NP_001369714.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1289,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1473G>A",
"hgvs_p": "p.Trp491*",
"transcript": "NM_001382786.1",
"protein_id": "NP_001369715.1",
"transcript_support_level": null,
"aa_start": 491,
"aa_end": null,
"aa_length": 1282,
"cds_start": 1473,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 1648,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1431G>A",
"hgvs_p": "p.Trp477*",
"transcript": "NM_001382787.1",
"protein_id": "NP_001369716.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1431,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 1606,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_001382788.1",
"protein_id": "NP_001369717.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1377G>A",
"hgvs_p": "p.Trp459*",
"transcript": "NM_001382789.1",
"protein_id": "NP_001369718.1",
"transcript_support_level": null,
"aa_start": 459,
"aa_end": null,
"aa_length": 1262,
"cds_start": 1377,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1552,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_001382790.1",
"protein_id": "NP_001369719.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1254,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1347G>A",
"hgvs_p": "p.Trp449*",
"transcript": "NM_001382791.1",
"protein_id": "NP_001369720.1",
"transcript_support_level": null,
"aa_start": 449,
"aa_end": null,
"aa_length": 1252,
"cds_start": 1347,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 1522,
"cdna_end": null,
"cdna_length": 4548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_001382792.1",
"protein_id": "NP_001369721.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1243,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_001382793.1",
"protein_id": "NP_001369722.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_001382794.1",
"protein_id": "NP_001369723.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1241,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Trp437*",
"transcript": "NM_001289936.2",
"protein_id": "NP_001276865.1",
"transcript_support_level": null,
"aa_start": 437,
"aa_end": null,
"aa_length": 1240,
"cds_start": 1311,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 1883,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1311G>A",
"hgvs_p": "p.Trp437*",
"transcript": "ENST00000541774.5",
"protein_id": "ENSP00000446466.1",
"transcript_support_level": 5,
"aa_start": 437,
"aa_end": null,
"aa_length": 1240,
"cds_start": 1311,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_001382795.1",
"protein_id": "NP_001369724.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1239,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*",
"transcript": "NM_001382796.1",
"protein_id": "NP_001369725.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 1226,
"cds_start": 1356,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 1531,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1266G>A",
"hgvs_p": "p.Trp422*",
"transcript": "NM_001005862.3",
"protein_id": "NP_001005862.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 1225,
"cds_start": 1266,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 1832,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1266G>A",
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"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "ENST00000269571.10",
"gene_symbol": "ERBB2",
"hgnc_id": 3430,
"effects": [
"stop_gained"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Trp452*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}