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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: 19-11359668-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11359668&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11359668,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001393892.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "NM_001393892.1",
"protein_id": "NP_001380821.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 452,
"cds_start": 203,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": "ENST00000688289.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393892.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000688289.1",
"protein_id": "ENSP00000510269.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 452,
"cds_start": 203,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2697,
"mane_select": "NM_001393892.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000688289.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000251473.9",
"protein_id": "ENSP00000251473.4",
"transcript_support_level": 1,
"aa_start": 68,
"aa_end": null,
"aa_length": 343,
"cds_start": 203,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 579,
"cdna_end": null,
"cdna_length": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251473.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "NM_001393893.1",
"protein_id": "NP_001380822.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 452,
"cds_start": 203,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393893.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000970838.1",
"protein_id": "ENSP00000640897.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 452,
"cds_start": 203,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 2902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970838.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000970837.1",
"protein_id": "ENSP00000640896.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 442,
"cds_start": 203,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2665,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000970837.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_001170635.2",
"protein_id": "NP_001164106.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 427,
"cds_start": 128,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2622,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001170635.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000591608.2",
"protein_id": "ENSP00000466898.1",
"transcript_support_level": 2,
"aa_start": 43,
"aa_end": null,
"aa_length": 427,
"cds_start": 128,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 392,
"cdna_end": null,
"cdna_length": 2556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591608.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "NM_001393894.1",
"protein_id": "NP_001380823.1",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 343,
"cds_start": 203,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 2722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393894.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "NM_022737.3",
"protein_id": "NP_073574.2",
"transcript_support_level": null,
"aa_start": 68,
"aa_end": null,
"aa_length": 343,
"cds_start": 203,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 533,
"cdna_end": null,
"cdna_length": 2681,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022737.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_001393895.1",
"protein_id": "NP_001380824.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 318,
"cds_start": 128,
"cds_end": null,
"cds_length": 957,
"cdna_start": 458,
"cdna_end": null,
"cdna_length": 2606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393895.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "NM_001393896.1",
"protein_id": "NP_001380825.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 318,
"cds_start": 128,
"cds_end": null,
"cds_length": 957,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2647,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001393896.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln",
"transcript": "ENST00000591329.5",
"protein_id": "ENSP00000467807.1",
"transcript_support_level": 2,
"aa_start": 68,
"aa_end": null,
"aa_length": 83,
"cds_start": 203,
"cds_end": null,
"cds_length": 254,
"cdna_start": 582,
"cdna_end": null,
"cdna_length": 633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000591329.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "ENST00000586380.5",
"protein_id": "ENSP00000466698.1",
"transcript_support_level": 4,
"aa_start": 43,
"aa_end": null,
"aa_length": 65,
"cds_start": 128,
"cds_end": null,
"cds_length": 198,
"cdna_start": 465,
"cdna_end": null,
"cdna_length": 535,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586380.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "c.128G>A",
"hgvs_p": "p.Arg43Gln",
"transcript": "XM_017027148.2",
"protein_id": "XP_016882637.1",
"transcript_support_level": null,
"aa_start": 43,
"aa_end": null,
"aa_length": 427,
"cds_start": 128,
"cds_end": null,
"cds_length": 1284,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017027148.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "n.595G>A",
"hgvs_p": null,
"transcript": "ENST00000586431.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 635,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000586431.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "n.181G>A",
"hgvs_p": null,
"transcript": "ENST00000588196.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 407,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000588196.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"hgvs_c": "n.-55G>A",
"hgvs_p": null,
"transcript": "ENST00000587801.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 739,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000587801.5"
}
],
"gene_symbol": "PLPPR2",
"gene_hgnc_id": 29566,
"dbsnp": "rs970915215",
"frequency_reference_population": 0.0000049645287,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000411166,
"gnomad_genomes_af": 0.0000131434,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1979273557662964,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.115,
"revel_prediction": "Benign",
"alphamissense_score": 0.1079,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.519,
"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_001393892.1",
"gene_symbol": "PLPPR2",
"hgnc_id": 29566,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.203G>A",
"hgvs_p": "p.Arg68Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}