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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: 19-1360157-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1360157&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 1360157,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001369790.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "NM_001369789.1",
"protein_id": "NP_001356718.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 710,
"cds_start": 236,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000591337.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369789.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "ENST00000591337.7",
"protein_id": "ENSP00000467287.4",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 710,
"cds_start": 236,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001369789.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591337.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "ENST00000415183.7",
"protein_id": "ENSP00000394925.3",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 731,
"cds_start": 236,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415183.7"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "ENST00000591806.6",
"protein_id": "ENSP00000467083.2",
"transcript_support_level": 1,
"aa_start": 79,
"aa_end": null,
"aa_length": 710,
"cds_start": 236,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591806.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "n.*112C>T",
"hgvs_p": null,
"transcript": "ENST00000587460.6",
"protein_id": "ENSP00000465838.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000587460.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "n.*112C>T",
"hgvs_p": null,
"transcript": "ENST00000587460.6",
"protein_id": "ENSP00000465838.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000587460.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "NM_001369790.1",
"protein_id": "NP_001356719.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 744,
"cds_start": 236,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369790.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "ENST00000913149.1",
"protein_id": "ENSP00000583208.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 744,
"cds_start": 236,
"cds_end": null,
"cds_length": 2235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913149.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000627377.1",
"protein_id": "ENSP00000487567.1",
"transcript_support_level": 5,
"aa_start": 80,
"aa_end": null,
"aa_length": 732,
"cds_start": 239,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627377.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "NM_001382408.1",
"protein_id": "NP_001369337.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 722,
"cds_start": 236,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382408.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.239C>T",
"hgvs_p": "p.Ala80Val",
"transcript": "ENST00000652273.1",
"protein_id": "ENSP00000498656.1",
"transcript_support_level": null,
"aa_start": 80,
"aa_end": null,
"aa_length": 711,
"cds_start": 239,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000652273.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "NM_032853.5",
"protein_id": "NP_116242.3",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 710,
"cds_start": 236,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032853.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "ENST00000853246.1",
"protein_id": "ENSP00000523305.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 710,
"cds_start": 236,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853246.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "ENST00000853248.1",
"protein_id": "ENSP00000523307.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 710,
"cds_start": 236,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853248.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "ENST00000853249.1",
"protein_id": "ENSP00000523308.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 710,
"cds_start": 236,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853249.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "NM_001382409.1",
"protein_id": "NP_001369338.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 695,
"cds_start": 236,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382409.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "NM_001382410.1",
"protein_id": "NP_001369339.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 695,
"cds_start": 236,
"cds_end": null,
"cds_length": 2088,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382410.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.32C>T",
"hgvs_p": "p.Ala11Val",
"transcript": "NM_001369792.1",
"protein_id": "NP_001356721.1",
"transcript_support_level": null,
"aa_start": 11,
"aa_end": null,
"aa_length": 642,
"cds_start": 32,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369792.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.236C>T",
"hgvs_p": "p.Ala79Val",
"transcript": "NM_001369794.1",
"protein_id": "NP_001356723.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 533,
"cds_start": 236,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369794.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.-134C>T",
"hgvs_p": null,
"transcript": "NM_001369793.1",
"protein_id": "NP_001356722.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 587,
"cds_start": null,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369793.1"
},
{
"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": 14,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.215-471C>T",
"hgvs_p": null,
"transcript": "ENST00000913150.1",
"protein_id": "ENSP00000583209.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 546,
"cds_start": null,
"cds_end": null,
"cds_length": 1641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913150.1"
},
{
"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": 13,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "PWWP3A",
"gene_hgnc_id": 29641,
"hgvs_c": "c.214+1693C>T",
"hgvs_p": null,
"transcript": "ENST00000945202.1",
"protein_id": "ENSP00000615261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 411,
"cds_start": null,
"cds_end": null,
"cds_length": 1236,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945202.1"
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}