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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: 19-15476534-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=15476534&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 15476534,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001363546.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "NM_052890.4",
"protein_id": "NP_443122.3",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 576,
"cds_start": 136,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340880.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052890.4"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "ENST00000340880.5",
"protein_id": "ENSP00000345968.4",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 576,
"cds_start": 136,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_052890.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340880.5"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "ENST00000292609.8",
"protein_id": "ENSP00000292609.3",
"transcript_support_level": 1,
"aa_start": 46,
"aa_end": null,
"aa_length": 634,
"cds_start": 136,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292609.8"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "ENST00000851095.1",
"protein_id": "ENSP00000521154.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 638,
"cds_start": 136,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851095.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "NM_001363546.1",
"protein_id": "NP_001350475.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 634,
"cds_start": 136,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363546.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "ENST00000851096.1",
"protein_id": "ENSP00000521155.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 617,
"cds_start": 136,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851096.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "ENST00000851094.1",
"protein_id": "ENSP00000521153.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 608,
"cds_start": 136,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851094.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "ENST00000851089.1",
"protein_id": "ENSP00000521148.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 576,
"cds_start": 136,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851089.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "ENST00000851090.1",
"protein_id": "ENSP00000521149.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 576,
"cds_start": 136,
"cds_end": null,
"cds_length": 1731,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851090.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.244A>T",
"hgvs_p": "p.Thr82Ser",
"transcript": "ENST00000601792.1",
"protein_id": "ENSP00000472856.2",
"transcript_support_level": 4,
"aa_start": 82,
"aa_end": null,
"aa_length": 180,
"cds_start": 244,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601792.1"
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser",
"transcript": "ENST00000594637.1",
"protein_id": "ENSP00000470112.1",
"transcript_support_level": 4,
"aa_start": 46,
"aa_end": null,
"aa_length": 104,
"cds_start": 136,
"cds_end": null,
"cds_length": 317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594637.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.62-379A>T",
"hgvs_p": null,
"transcript": "ENST00000851097.1",
"protein_id": "ENSP00000521156.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 425,
"cds_start": null,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851097.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.61+2777A>T",
"hgvs_p": null,
"transcript": "ENST00000851091.1",
"protein_id": "ENSP00000521150.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851091.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.61+2777A>T",
"hgvs_p": null,
"transcript": "ENST00000851092.1",
"protein_id": "ENSP00000521151.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851092.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.61+2777A>T",
"hgvs_p": null,
"transcript": "ENST00000851093.1",
"protein_id": "ENSP00000521152.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851093.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"hgvs_c": "c.61+2777A>T",
"hgvs_p": null,
"transcript": "ENST00000969569.1",
"protein_id": "ENSP00000639628.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 219,
"cds_start": null,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969569.1"
}
],
"gene_symbol": "PGLYRP2",
"gene_hgnc_id": 30013,
"dbsnp": "rs3813135",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.07347142696380615,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.025,
"revel_prediction": "Benign",
"alphamissense_score": 0.0853,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.75,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.033,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001363546.1",
"gene_symbol": "PGLYRP2",
"hgnc_id": 30013,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.136A>T",
"hgvs_p": "p.Thr46Ser"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}