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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: 17-39727317-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=39727317&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 39727317,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000269571.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3182T>C",
"hgvs_p": "p.Leu1061Pro",
"transcript": "NM_004448.4",
"protein_id": "NP_004439.2",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "ENST00000269571.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3182T>C",
"hgvs_p": "p.Leu1061Pro",
"transcript": "ENST00000269571.10",
"protein_id": "ENSP00000269571.4",
"transcript_support_level": 1,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1255,
"cds_start": 3182,
"cds_end": null,
"cds_length": 3768,
"cdna_start": 3357,
"cdna_end": null,
"cdna_length": 4557,
"mane_select": "NM_004448.4",
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*2972T>C",
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "n.*2972T>C",
"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": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3159+314T>C",
"hgvs_p": null,
"transcript": "ENST00000584450.5",
"protein_id": "ENSP00000463714.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1055,
"cds_start": -4,
"cds_end": null,
"cds_length": 3168,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3730,
"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": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3299T>C",
"hgvs_p": "p.Leu1100Pro",
"transcript": "NM_001382784.1",
"protein_id": "NP_001369713.1",
"transcript_support_level": null,
"aa_start": 1100,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3299,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3474,
"cdna_end": null,
"cdna_length": 4674,
"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": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3284T>C",
"hgvs_p": "p.Leu1095Pro",
"transcript": "NM_001382785.1",
"protein_id": "NP_001369714.1",
"transcript_support_level": null,
"aa_start": 1095,
"aa_end": null,
"aa_length": 1289,
"cds_start": 3284,
"cds_end": null,
"cds_length": 3870,
"cdna_start": 3459,
"cdna_end": null,
"cdna_length": 4659,
"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": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3263T>C",
"hgvs_p": "p.Leu1088Pro",
"transcript": "NM_001382786.1",
"protein_id": "NP_001369715.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1282,
"cds_start": 3263,
"cds_end": null,
"cds_length": 3849,
"cdna_start": 3438,
"cdna_end": null,
"cdna_length": 4638,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3257T>C",
"hgvs_p": "p.Leu1086Pro",
"transcript": "NM_001382787.1",
"protein_id": "NP_001369716.1",
"transcript_support_level": null,
"aa_start": 1086,
"aa_end": null,
"aa_length": 1280,
"cds_start": 3257,
"cds_end": null,
"cds_length": 3843,
"cdna_start": 3432,
"cdna_end": null,
"cdna_length": 4632,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3212T>C",
"hgvs_p": "p.Leu1071Pro",
"transcript": "NM_001382788.1",
"protein_id": "NP_001369717.1",
"transcript_support_level": null,
"aa_start": 1071,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3212,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 3387,
"cdna_end": null,
"cdna_length": 4587,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3203T>C",
"hgvs_p": "p.Leu1068Pro",
"transcript": "NM_001382789.1",
"protein_id": "NP_001369718.1",
"transcript_support_level": null,
"aa_start": 1068,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3203,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3378,
"cdna_end": null,
"cdna_length": 4578,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3179T>C",
"hgvs_p": "p.Leu1060Pro",
"transcript": "NM_001382790.1",
"protein_id": "NP_001369719.1",
"transcript_support_level": null,
"aa_start": 1060,
"aa_end": null,
"aa_length": 1254,
"cds_start": 3179,
"cds_end": null,
"cds_length": 3765,
"cdna_start": 3354,
"cdna_end": null,
"cdna_length": 4554,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3173T>C",
"hgvs_p": "p.Leu1058Pro",
"transcript": "NM_001382791.1",
"protein_id": "NP_001369720.1",
"transcript_support_level": null,
"aa_start": 1058,
"aa_end": null,
"aa_length": 1252,
"cds_start": 3173,
"cds_end": null,
"cds_length": 3759,
"cdna_start": 3348,
"cdna_end": null,
"cdna_length": 4548,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3146T>C",
"hgvs_p": "p.Leu1049Pro",
"transcript": "NM_001382792.1",
"protein_id": "NP_001369721.1",
"transcript_support_level": null,
"aa_start": 1049,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3146,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3321,
"cdna_end": null,
"cdna_length": 4521,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3140T>C",
"hgvs_p": "p.Leu1047Pro",
"transcript": "NM_001382793.1",
"protein_id": "NP_001369722.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3315,
"cdna_end": null,
"cdna_length": 4515,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3140T>C",
"hgvs_p": "p.Leu1047Pro",
"transcript": "NM_001382794.1",
"protein_id": "NP_001369723.1",
"transcript_support_level": null,
"aa_start": 1047,
"aa_end": null,
"aa_length": 1241,
"cds_start": 3140,
"cds_end": null,
"cds_length": 3726,
"cdna_start": 3315,
"cdna_end": null,
"cdna_length": 4515,
"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": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3137T>C",
"hgvs_p": "p.Leu1046Pro",
"transcript": "NM_001289936.2",
"protein_id": "NP_001276865.1",
"transcript_support_level": null,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3137,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 4909,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3137T>C",
"hgvs_p": "p.Leu1046Pro",
"transcript": "ENST00000541774.5",
"protein_id": "ENSP00000446466.1",
"transcript_support_level": 5,
"aa_start": 1046,
"aa_end": null,
"aa_length": 1240,
"cds_start": 3137,
"cds_end": null,
"cds_length": 3723,
"cdna_start": 3137,
"cdna_end": null,
"cdna_length": 4341,
"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": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3134T>C",
"hgvs_p": "p.Leu1045Pro",
"transcript": "NM_001382795.1",
"protein_id": "NP_001369724.1",
"transcript_support_level": null,
"aa_start": 1045,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3134,
"cds_end": null,
"cds_length": 3720,
"cdna_start": 3309,
"cdna_end": null,
"cdna_length": 4509,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3095T>C",
"hgvs_p": "p.Leu1032Pro",
"transcript": "NM_001382796.1",
"protein_id": "NP_001369725.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1226,
"cds_start": 3095,
"cds_end": null,
"cds_length": 3681,
"cdna_start": 3270,
"cdna_end": null,
"cdna_length": 4470,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Leu1031Pro",
"transcript": "NM_001005862.3",
"protein_id": "NP_001005862.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3658,
"cdna_end": null,
"cdna_length": 4858,
"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": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB2",
"gene_hgnc_id": 3430,
"hgvs_c": "c.3092T>C",
"hgvs_p": "p.Leu1031Pro",
"transcript": "NM_001382782.1",
"protein_id": "NP_001369711.1",
"transcript_support_level": null,
"aa_start": 1031,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3092,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 3965,
"cdna_end": null,
"cdna_length": 5165,
"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": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
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{
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"pathogenic_score": 0,
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"clinvar_disease": " 2, autosomal recessive, familial,Gastric cancer,Glioma susceptibility 1,Lung cancer,Ovarian cancer,Visceral neuropathy,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 O:1",
"phenotype_combined": "not specified|not provided|Ovarian cancer;Visceral neuropathy, familial, 2, autosomal recessive;Lung cancer;Gastric cancer;Glioma susceptibility 1",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}