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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: 4-733732-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=733732&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"gene_symbol": "PCGF3",
"hgnc_id": 10066,
"hgvs_c": "c.-192C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001395250.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 80,
"alphamissense_prediction": null,
"alphamissense_score": 0.2648,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.21,
"chr": "4",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5156846642494202,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5067,
"cdna_start": 380,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_006315.7",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000362003.10",
"protein_coding": true,
"protein_id": "NP_006306.2",
"strand": true,
"transcript": "NM_006315.7",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5067,
"cdna_start": 380,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000362003.10",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006315.7",
"protein_coding": true,
"protein_id": "ENSP00000354724.5",
"strand": true,
"transcript": "ENST00000362003.10",
"transcript_support_level": 5
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1652,
"cdna_start": 446,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000470161.6",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420489.2",
"strand": true,
"transcript": "ENST00000470161.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 208,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5208,
"cdna_start": null,
"cds_end": null,
"cds_length": 627,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001395250.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.-192C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382179.1",
"strand": true,
"transcript": "NM_001395250.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 208,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5143,
"cdna_start": null,
"cds_end": null,
"cds_length": 627,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001395251.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.-192C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382180.1",
"strand": true,
"transcript": "NM_001395251.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5166,
"cdna_start": 479,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001317836.3",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001304765.1",
"strand": true,
"transcript": "NM_001317836.3",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5184,
"cdna_start": 497,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395245.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382174.1",
"strand": true,
"transcript": "NM_001395245.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5122,
"cdna_start": 435,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395246.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382175.1",
"strand": true,
"transcript": "NM_001395246.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5101,
"cdna_start": 414,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395247.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382176.1",
"strand": true,
"transcript": "NM_001395247.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5057,
"cdna_start": 370,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001395248.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382177.1",
"strand": true,
"transcript": "NM_001395248.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5002,
"cdna_start": 315,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001395249.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001382178.1",
"strand": true,
"transcript": "NM_001395249.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3137,
"cdna_start": 509,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870362.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540421.1",
"strand": true,
"transcript": "ENST00000870362.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 242,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1507,
"cdna_start": 316,
"cds_end": null,
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"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000870364.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540423.1",
"strand": true,
"transcript": "ENST00000870364.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 603,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000917777.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000587836.1",
"strand": true,
"transcript": "ENST00000917777.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 242,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 555,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954672.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624731.1",
"strand": true,
"transcript": "ENST00000954672.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1781,
"cdna_start": 590,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954673.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624732.1",
"strand": true,
"transcript": "ENST00000954673.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1621,
"cdna_start": 425,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954674.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624733.1",
"strand": true,
"transcript": "ENST00000954674.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 242,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3026,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000954675.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624734.1",
"strand": true,
"transcript": "ENST00000954675.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1659,
"cdna_start": 441,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954676.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624735.1",
"strand": true,
"transcript": "ENST00000954676.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
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"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1324,
"cdna_start": 409,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954677.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000624736.1",
"strand": true,
"transcript": "ENST00000954677.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 242,
"aa_ref": "R",
"aa_start": 18,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3143,
"cdna_start": 379,
"cds_end": null,
"cds_length": 729,
"cds_start": 52,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000954678.1",
"gene_hgnc_id": 10066,
"gene_symbol": "PCGF3",
"hgvs_c": "c.52C>T",
"hgvs_p": "p.Arg18Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
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