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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: 19-55231465-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55231465&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 55231465,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000412770.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "NM_014931.4",
"protein_id": "NP_055746.3",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 881,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": "ENST00000412770.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "ENST00000412770.7",
"protein_id": "ENSP00000414202.1",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 881,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 3984,
"mane_select": "NM_014931.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "ENST00000587283.5",
"protein_id": "ENSP00000467521.1",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 881,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2673,
"cdna_end": null,
"cdna_length": 2953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2449G>A",
"hgvs_p": "p.Gly817Arg",
"transcript": "XM_047438420.1",
"protein_id": "XP_047294376.1",
"transcript_support_level": null,
"aa_start": 817,
"aa_end": null,
"aa_length": 896,
"cds_start": 2449,
"cds_end": null,
"cds_length": 2691,
"cdna_start": 2612,
"cdna_end": null,
"cdna_length": 3603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438422.1",
"protein_id": "XP_047294378.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2509,
"cdna_end": null,
"cdna_length": 3315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438423.1",
"protein_id": "XP_047294379.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2993,
"cdna_end": null,
"cdna_length": 3799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438424.1",
"protein_id": "XP_047294380.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2523,
"cdna_end": null,
"cdna_length": 3329,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438425.1",
"protein_id": "XP_047294381.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 3149,
"cdna_end": null,
"cdna_length": 3955,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438426.1",
"protein_id": "XP_047294382.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 3113,
"cdna_end": null,
"cdna_length": 3919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438427.1",
"protein_id": "XP_047294383.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2627,
"cdna_end": null,
"cdna_length": 3433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438428.1",
"protein_id": "XP_047294384.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2679,
"cdna_end": null,
"cdna_length": 3485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438429.1",
"protein_id": "XP_047294385.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 3029,
"cdna_end": null,
"cdna_length": 3835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438430.1",
"protein_id": "XP_047294386.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2545,
"cdna_end": null,
"cdna_length": 3351,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438431.1",
"protein_id": "XP_047294387.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2507,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438432.1",
"protein_id": "XP_047294388.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 886,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2661,
"cdna_start": 2471,
"cdna_end": null,
"cdna_length": 3277,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "XM_047438421.1",
"protein_id": "XP_047294377.1",
"transcript_support_level": null,
"aa_start": 802,
"aa_end": null,
"aa_length": 881,
"cds_start": 2404,
"cds_end": null,
"cds_length": 2646,
"cdna_start": 2410,
"cdna_end": null,
"cdna_length": 2652,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"hgvs_c": "n.1399G>A",
"hgvs_p": null,
"transcript": "ENST00000587457.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPP6R1",
"gene_hgnc_id": 29195,
"dbsnp": "rs780621892",
"frequency_reference_population": 0.00006653658,
"hom_count_reference_population": 0,
"allele_count_reference_population": 107,
"gnomad_exomes_af": 0.0000673046,
"gnomad_genomes_af": 0.0000591825,
"gnomad_exomes_ac": 98,
"gnomad_genomes_ac": 9,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04532197117805481,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.018,
"revel_prediction": "Benign",
"alphamissense_score": 0.0691,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.222,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000412770.7",
"gene_symbol": "PPP6R1",
"hgnc_id": 29195,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}