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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: 2-211383704-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=211383704&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 211383704,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000342788.9",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3838G>T",
"hgvs_p": "p.Glu1280*",
"transcript": "NM_005235.3",
"protein_id": "NP_005226.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3838,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 4110,
"cdna_end": null,
"cdna_length": 12097,
"mane_select": "ENST00000342788.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3838G>T",
"hgvs_p": "p.Glu1280*",
"transcript": "ENST00000342788.9",
"protein_id": "ENSP00000342235.4",
"transcript_support_level": 1,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1308,
"cds_start": 3838,
"cds_end": null,
"cds_length": 3927,
"cdna_start": 4110,
"cdna_end": null,
"cdna_length": 12097,
"mane_select": "NM_005235.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3790G>T",
"hgvs_p": "p.Glu1264*",
"transcript": "ENST00000436443.5",
"protein_id": "ENSP00000403204.1",
"transcript_support_level": 1,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3790,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 4101,
"cdna_end": null,
"cdna_length": 12084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3808G>T",
"hgvs_p": "p.Glu1270*",
"transcript": "NM_001439005.1",
"protein_id": "NP_001425934.1",
"transcript_support_level": null,
"aa_start": 1270,
"aa_end": null,
"aa_length": 1298,
"cds_start": 3808,
"cds_end": null,
"cds_length": 3897,
"cdna_start": 4080,
"cdna_end": null,
"cdna_length": 12067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3790G>T",
"hgvs_p": "p.Glu1264*",
"transcript": "NM_001042599.2",
"protein_id": "NP_001036064.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1292,
"cds_start": 3790,
"cds_end": null,
"cds_length": 3879,
"cdna_start": 4062,
"cdna_end": null,
"cdna_length": 12049,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3760G>T",
"hgvs_p": "p.Glu1254*",
"transcript": "NM_001439006.1",
"protein_id": "NP_001425935.1",
"transcript_support_level": null,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3760,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 4032,
"cdna_end": null,
"cdna_length": 12019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3760G>T",
"hgvs_p": "p.Glu1254*",
"transcript": "ENST00000260943.11",
"protein_id": "ENSP00000260943.7",
"transcript_support_level": 5,
"aa_start": 1254,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3760,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3760,
"cdna_end": null,
"cdna_length": 4193,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3961G>T",
"hgvs_p": "p.Glu1321*",
"transcript": "XM_017003577.3",
"protein_id": "XP_016859066.1",
"transcript_support_level": null,
"aa_start": 1321,
"aa_end": null,
"aa_length": 1349,
"cds_start": 3961,
"cds_end": null,
"cds_length": 4050,
"cdna_start": 4233,
"cdna_end": null,
"cdna_length": 12220,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3916G>T",
"hgvs_p": "p.Glu1306*",
"transcript": "XM_017003578.3",
"protein_id": "XP_016859067.1",
"transcript_support_level": null,
"aa_start": 1306,
"aa_end": null,
"aa_length": 1334,
"cds_start": 3916,
"cds_end": null,
"cds_length": 4005,
"cdna_start": 4188,
"cdna_end": null,
"cdna_length": 12175,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3913G>T",
"hgvs_p": "p.Glu1305*",
"transcript": "XM_017003579.3",
"protein_id": "XP_016859068.1",
"transcript_support_level": null,
"aa_start": 1305,
"aa_end": null,
"aa_length": 1333,
"cds_start": 3913,
"cds_end": null,
"cds_length": 4002,
"cdna_start": 4185,
"cdna_end": null,
"cdna_length": 12172,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3886G>T",
"hgvs_p": "p.Glu1296*",
"transcript": "XM_017003580.3",
"protein_id": "XP_016859069.1",
"transcript_support_level": null,
"aa_start": 1296,
"aa_end": null,
"aa_length": 1324,
"cds_start": 3886,
"cds_end": null,
"cds_length": 3975,
"cdna_start": 4158,
"cdna_end": null,
"cdna_length": 12145,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3883G>T",
"hgvs_p": "p.Glu1295*",
"transcript": "XM_006712364.4",
"protein_id": "XP_006712427.1",
"transcript_support_level": null,
"aa_start": 1295,
"aa_end": null,
"aa_length": 1323,
"cds_start": 3883,
"cds_end": null,
"cds_length": 3972,
"cdna_start": 4155,
"cdna_end": null,
"cdna_length": 12142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3868G>T",
"hgvs_p": "p.Glu1290*",
"transcript": "XM_017003581.3",
"protein_id": "XP_016859070.1",
"transcript_support_level": null,
"aa_start": 1290,
"aa_end": null,
"aa_length": 1318,
"cds_start": 3868,
"cds_end": null,
"cds_length": 3957,
"cdna_start": 4140,
"cdna_end": null,
"cdna_length": 12127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"hgvs_c": "c.3262G>T",
"hgvs_p": "p.Glu1088*",
"transcript": "XM_017003582.2",
"protein_id": "XP_016859071.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1116,
"cds_start": 3262,
"cds_end": null,
"cds_length": 3351,
"cdna_start": 3640,
"cdna_end": null,
"cdna_length": 11627,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERBB4",
"gene_hgnc_id": 3432,
"dbsnp": "rs2125308701",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6600000262260437,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.388,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000342788.9",
"gene_symbol": "ERBB4",
"hgnc_id": 3432,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3838G>T",
"hgvs_p": "p.Glu1280*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}