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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: 17-39711955-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39711955&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39711955,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000269571.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_004448.4",
"protein_id": "NP_004439.2",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1255,
"cds_start": 929,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "ENST00000269571.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "ENST00000269571.10",
"protein_id": "ENSP00000269571.4",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 1255,
"cds_start": 929,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "NM_004448.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "ENST00000584450.5",
"protein_id": "ENSP00000463714.1",
"transcript_support_level": 1,
"aa_start": 310,
"aa_end": null,
"aa_length": 1055,
"cds_start": 929,
"cds_end": null,
"cds_length": 3168,
"cdna_start": 1144,
"cdna_end": null,
"cdna_length": 3730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.839C>A",
"hgvs_p": "p.Ser280Tyr",
"transcript": "ENST00000578199.5",
"protein_id": "ENSP00000462808.1",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 603,
"cds_start": 839,
"cds_end": null,
"cds_length": 1812,
"cdna_start": 1380,
"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": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*719C>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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.941C>A",
"hgvs_p": null,
"transcript": "ENST00000584908.5",
"protein_id": null,
"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": 1316,
"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": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*719C>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": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382784.1",
"protein_id": "NP_001369713.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1294,
"cds_start": 929,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382785.1",
"protein_id": "NP_001369714.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1289,
"cds_start": 929,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4659,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382786.1",
"protein_id": "NP_001369715.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1282,
"cds_start": 929,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.1004C>A",
"hgvs_p": "p.Ser335Tyr",
"transcript": "NM_001382787.1",
"protein_id": "NP_001369716.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 1280,
"cds_start": 1004,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 1179,
"cdna_end": null,
"cdna_length": 4632,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382788.1",
"protein_id": "NP_001369717.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1265,
"cds_start": 929,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382789.1",
"protein_id": "NP_001369718.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1262,
"cds_start": 929,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382790.1",
"protein_id": "NP_001369719.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1254,
"cds_start": 929,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.920C>A",
"hgvs_p": "p.Ser307Tyr",
"transcript": "NM_001382791.1",
"protein_id": "NP_001369720.1",
"transcript_support_level": null,
"aa_start": 307,
"aa_end": null,
"aa_length": 1252,
"cds_start": 920,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 1095,
"cdna_end": null,
"cdna_length": 4548,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382792.1",
"protein_id": "NP_001369721.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1243,
"cds_start": 929,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4521,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382793.1",
"protein_id": "NP_001369722.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1241,
"cds_start": 929,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382794.1",
"protein_id": "NP_001369723.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1241,
"cds_start": 929,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4515,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.884C>A",
"hgvs_p": "p.Ser295Tyr",
"transcript": "NM_001289936.2",
"protein_id": "NP_001276865.1",
"transcript_support_level": null,
"aa_start": 295,
"aa_end": null,
"aa_length": 1240,
"cds_start": 884,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 1456,
"cdna_end": null,
"cdna_length": 4909,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.884C>A",
"hgvs_p": "p.Ser295Tyr",
"transcript": "ENST00000541774.5",
"protein_id": "ENSP00000446466.1",
"transcript_support_level": 5,
"aa_start": 295,
"aa_end": null,
"aa_length": 1240,
"cds_start": 884,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 884,
"cdna_end": null,
"cdna_length": 4341,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382795.1",
"protein_id": "NP_001369724.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1239,
"cds_start": 929,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4509,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr",
"transcript": "NM_001382796.1",
"protein_id": "NP_001369725.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1226,
"cds_start": 929,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 1104,
"cdna_end": null,
"cdna_length": 4470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
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"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": 0.9137700796127319,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.54,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7277,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.323,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Moderate,PP5_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Moderate",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000269571.10",
"gene_symbol": "ERBB2",
"hgnc_id": 3430,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AD",
"hgvs_c": "c.929C>A",
"hgvs_p": "p.Ser310Tyr"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}