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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: 19-1358395-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=1358395&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "PWWP3A",
"hgnc_id": 29641,
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001369790.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 58,
"alphamissense_prediction": null,
"alphamissense_score": 0.1568,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.03803691267967224,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4232,
"cdna_start": 391,
"cds_end": null,
"cds_length": 2133,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001369789.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4232,
"cdna_start": 391,
"cds_end": null,
"cds_length": 2133,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000591337.7",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 731,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2837,
"cdna_start": 174,
"cds_end": null,
"cds_length": 2196,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000415183.7",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4067,
"cdna_start": 224,
"cds_end": null,
"cds_length": 2133,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000591806.6",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000587460.6",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "n.145A>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": "V",
"aa_end": null,
"aa_length": 744,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4219,
"cdna_start": 276,
"cds_end": null,
"cds_length": 2235,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001369790.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 744,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4308,
"cdna_start": 365,
"cds_end": null,
"cds_length": 2235,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 15,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913149.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 732,
"aa_ref": "I",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 148,
"cds_end": null,
"cds_length": 2199,
"cds_start": 148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000627377.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Ile50Val",
"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": "V",
"aa_end": null,
"aa_length": 722,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4153,
"cdna_start": 276,
"cds_end": null,
"cds_length": 2169,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382408.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 711,
"aa_ref": "I",
"aa_start": 50,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4058,
"cdna_start": 215,
"cds_end": null,
"cds_length": 2136,
"cds_start": 148,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652273.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.148A>G",
"hgvs_p": "p.Ile50Val",
"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": "V",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4117,
"cdna_start": 276,
"cds_end": null,
"cds_length": 2133,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_032853.5",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 413,
"cds_end": null,
"cds_length": 2133,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853246.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": 257,
"cds_end": null,
"cds_length": 2133,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853248.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 710,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2623,
"cdna_start": 265,
"cds_end": null,
"cds_length": 2133,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000853249.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 695,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4491,
"cdna_start": 276,
"cds_end": null,
"cds_length": 2088,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382409.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 695,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3129,
"cdna_start": 391,
"cds_end": null,
"cds_length": 2088,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001382410.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": null,
"aa_end": null,
"aa_length": 642,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4513,
"cdna_start": null,
"cds_end": null,
"cds_length": 1929,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001369792.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.-173A>G",
"hgvs_p": null,
"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": null,
"aa_end": null,
"aa_length": 587,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4106,
"cdna_start": null,
"cds_end": null,
"cds_length": 1764,
"cds_start": null,
"consequences": [
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001369793.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.-225A>G",
"hgvs_p": null,
"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": "V",
"aa_end": null,
"aa_length": 546,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2229,
"cdna_start": 356,
"cds_end": null,
"cds_length": 1641,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000913150.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583209.1",
"strand": true,
"transcript": "ENST00000913150.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 533,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3680,
"cdna_start": 276,
"cds_end": null,
"cds_length": 1602,
"cds_start": 145,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 13,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001369794.1",
"gene_hgnc_id": 29641,
"gene_symbol": "PWWP3A",
"hgvs_c": "c.145A>G",
"hgvs_p": "p.Ile49Val",
"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": "V",
"aa_end": null,
"aa_length": 411,
"aa_ref": "I",
"aa_start": 49,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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