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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: 19-1360337-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1360337&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "PWWP3A",
"hgnc_id": 29641,
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001369790.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 7,
"alphamissense_prediction": null,
"alphamissense_score": 0.0835,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.67,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04544633626937866,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4232,
"cdna_start": 662,
"cds_end": null,
"cds_length": 2133,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001369789.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000591337.7",
"protein_coding": true,
"protein_id": "NP_001356718.1",
"strand": true,
"transcript": "NM_001369789.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4232,
"cdna_start": 662,
"cds_end": null,
"cds_length": 2133,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000591337.7",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001369789.1",
"protein_coding": true,
"protein_id": "ENSP00000467287.4",
"strand": true,
"transcript": "ENST00000591337.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 731,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": 445,
"cds_end": null,
"cds_length": 2196,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000415183.7",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000394925.3",
"strand": true,
"transcript": "ENST00000415183.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 495,
"cds_end": null,
"cds_length": 2133,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000591806.6",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467083.2",
"strand": true,
"transcript": "ENST00000591806.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000587460.6",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "n.*292C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465838.2",
"strand": true,
"transcript": "ENST00000587460.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000587460.6",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "n.*292C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000465838.2",
"strand": true,
"transcript": "ENST00000587460.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 744,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4219,
"cdna_start": 547,
"cds_end": null,
"cds_length": 2235,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001369790.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356719.1",
"strand": true,
"transcript": "NM_001369790.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 744,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 636,
"cds_end": null,
"cds_length": 2235,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000913149.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583208.1",
"strand": true,
"transcript": "ENST00000913149.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 732,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 419,
"cds_end": null,
"cds_length": 2199,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000627377.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.419C>G",
"hgvs_p": "p.Pro140Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000487567.1",
"strand": true,
"transcript": "ENST00000627377.1",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 722,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 547,
"cds_end": null,
"cds_length": 2169,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001382408.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369337.1",
"strand": true,
"transcript": "NM_001382408.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 486,
"cds_end": null,
"cds_length": 2136,
"cds_start": 419,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000652273.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.419C>G",
"hgvs_p": "p.Pro140Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498656.1",
"strand": true,
"transcript": "ENST00000652273.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 547,
"cds_end": null,
"cds_length": 2133,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_032853.5",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_116242.3",
"strand": true,
"transcript": "NM_032853.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 684,
"cds_end": null,
"cds_length": 2133,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853246.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523305.1",
"strand": true,
"transcript": "ENST00000853246.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 528,
"cds_end": null,
"cds_length": 2133,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853248.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523307.1",
"strand": true,
"transcript": "ENST00000853248.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 710,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 536,
"cds_end": null,
"cds_length": 2133,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000853249.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523308.1",
"strand": true,
"transcript": "ENST00000853249.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 695,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 547,
"cds_end": null,
"cds_length": 2088,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001382409.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369338.1",
"strand": true,
"transcript": "NM_001382409.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 695,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 662,
"cds_end": null,
"cds_length": 2088,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001382410.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369339.1",
"strand": true,
"transcript": "NM_001382410.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 642,
"aa_ref": "P",
"aa_start": 71,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1929,
"cds_start": 212,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001369792.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.212C>G",
"hgvs_p": "p.Pro71Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356721.1",
"strand": true,
"transcript": "NM_001369792.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 587,
"aa_ref": "P",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": 536,
"cds_end": null,
"cds_length": 1764,
"cds_start": 47,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001369793.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.47C>G",
"hgvs_p": "p.Pro16Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356722.1",
"strand": true,
"transcript": "NM_001369793.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 533,
"aa_ref": "P",
"aa_start": 139,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 547,
"cds_end": null,
"cds_length": 1602,
"cds_start": 416,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001369794.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Pro139Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356723.1",
"strand": true,
"transcript": "NM_001369794.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 546,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": null,
"cds_end": null,
"cds_length": 1641,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000913150.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.215-291C>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
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