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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: 4-105399137-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=105399137&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 105399137,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000341695.10",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Pro228Leu",
"transcript": "NM_176869.3",
"protein_id": "NP_789845.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 334,
"cds_start": 683,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": "ENST00000341695.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Pro228Leu",
"transcript": "ENST00000341695.10",
"protein_id": "ENSP00000343885.5",
"transcript_support_level": 1,
"aa_start": 228,
"aa_end": null,
"aa_length": 334,
"cds_start": 683,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 1665,
"mane_select": "NM_176869.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Pro199Leu",
"transcript": "ENST00000348706.9",
"protein_id": "ENSP00000313061.8",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 305,
"cds_start": 596,
"cds_end": null,
"cds_length": 918,
"cdna_start": 610,
"cdna_end": null,
"cdna_length": 1414,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Pro126Leu",
"transcript": "ENST00000432483.6",
"protein_id": "ENSP00000389957.2",
"transcript_support_level": 1,
"aa_start": 126,
"aa_end": null,
"aa_length": 232,
"cds_start": 377,
"cds_end": null,
"cds_length": 699,
"cdna_start": 377,
"cdna_end": null,
"cdna_length": 859,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "ENST00000354147.7",
"protein_id": "ENSP00000340352.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 168,
"cds_start": 185,
"cds_end": null,
"cds_length": 507,
"cdna_start": 185,
"cdna_end": null,
"cdna_length": 667,
"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": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "n.*442C>T",
"hgvs_p": null,
"transcript": "ENST00000509031.5",
"protein_id": "ENSP00000423467.1",
"transcript_support_level": 1,
"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": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "n.*442C>T",
"hgvs_p": null,
"transcript": "ENST00000509031.5",
"protein_id": "ENSP00000423467.1",
"transcript_support_level": 1,
"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": 1177,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.596C>T",
"hgvs_p": "p.Pro199Leu",
"transcript": "NM_006903.4",
"protein_id": "NP_008834.3",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 305,
"cds_start": 596,
"cds_end": null,
"cds_length": 918,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 1586,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.377C>T",
"hgvs_p": "p.Pro126Leu",
"transcript": "NM_176866.2",
"protein_id": "NP_789842.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 232,
"cds_start": 377,
"cds_end": null,
"cds_length": 699,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 1367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.617C>T",
"hgvs_p": "p.Pro206Leu",
"transcript": "ENST00000508518.5",
"protein_id": "ENSP00000423889.1",
"transcript_support_level": 5,
"aa_start": 206,
"aa_end": null,
"aa_length": 224,
"cds_start": 617,
"cds_end": null,
"cds_length": 675,
"cdna_start": 619,
"cdna_end": null,
"cdna_length": 677,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.464C>T",
"hgvs_p": "p.Pro155Leu",
"transcript": "ENST00000510015.5",
"protein_id": "ENSP00000423363.1",
"transcript_support_level": 5,
"aa_start": 155,
"aa_end": null,
"aa_length": 190,
"cds_start": 464,
"cds_end": null,
"cds_length": 573,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.185C>T",
"hgvs_p": "p.Pro62Leu",
"transcript": "NM_176867.3",
"protein_id": "NP_789843.2",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 168,
"cds_start": 185,
"cds_end": null,
"cds_length": 507,
"cdna_start": 205,
"cdna_end": null,
"cdna_length": 1175,
"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": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "n.*405C>T",
"hgvs_p": null,
"transcript": "ENST00000351450.10",
"protein_id": "ENSP00000273977.9",
"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": 1072,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "n.375C>T",
"hgvs_p": null,
"transcript": "ENST00000503171.5",
"protein_id": null,
"transcript_support_level": 4,
"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": 585,
"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": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "n.692C>T",
"hgvs_p": null,
"transcript": "ENST00000509426.5",
"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": 1356,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "n.500C>T",
"hgvs_p": null,
"transcript": "ENST00000513605.5",
"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": 982,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "n.*405C>T",
"hgvs_p": null,
"transcript": "ENST00000351450.10",
"protein_id": "ENSP00000273977.9",
"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": 1072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "c.142-28264C>T",
"hgvs_p": null,
"transcript": "ENST00000515567.5",
"protein_id": "ENSP00000427375.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 68,
"cds_start": -4,
"cds_end": null,
"cds_length": 207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"hgvs_c": "n.*318C>T",
"hgvs_p": null,
"transcript": "ENST00000514209.5",
"protein_id": "ENSP00000424988.1",
"transcript_support_level": 5,
"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": 481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "PPA2",
"gene_hgnc_id": 28883,
"dbsnp": "rs138215926",
"frequency_reference_population": 0.00034709024,
"hom_count_reference_population": 0,
"allele_count_reference_population": 557,
"gnomad_exomes_af": 0.000338007,
"gnomad_genomes_af": 0.000433822,
"gnomad_exomes_ac": 491,
"gnomad_genomes_ac": 66,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.42453259229660034,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.854,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.3016,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.2,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.483,
"phylop100way_prediction": "Pathogenic",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PP5_Very_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000341695.10",
"gene_symbol": "PPA2",
"hgnc_id": 28883,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.683C>T",
"hgvs_p": "p.Pro228Leu"
}
],
"clinvar_disease": " alcohol-induced, infantile,Inborn genetic diseases,Sudden cardiac failure,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:4 LP:2",
"phenotype_combined": "Sudden cardiac failure, alcohol-induced|Inborn genetic diseases|Sudden cardiac failure, infantile|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}