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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: 16-1678353-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1678353&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "JPT2",
"hgnc_id": 14137,
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001434664.1",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000261732",
"hgnc_id": null,
"hgvs_c": "n.*3851+2654C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000454337.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.2048,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.22171854972839355,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 190,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 75,
"cds_end": null,
"cds_length": 573,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_144570.3",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000248098.8",
"protein_coding": true,
"protein_id": "NP_653171.1",
"strand": true,
"transcript": "NM_144570.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 190,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3695,
"cdna_start": 75,
"cds_end": null,
"cds_length": 573,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000248098.8",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_144570.3",
"protein_coding": true,
"protein_id": "ENSP00000248098.3",
"strand": true,
"transcript": "ENST00000248098.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 70,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 75,
"cds_end": null,
"cds_length": 213,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000561516.5",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454459.1",
"strand": true,
"transcript": "ENST00000561516.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 911,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000569256.5",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "n.98C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000569256.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 5326,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000454337.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000261732",
"hgvs_c": "n.*3851+2654C>T",
"hgvs_p": null,
"intron_rank": 21,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000399780.1",
"strand": true,
"transcript": "ENST00000454337.1",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 232,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 75,
"cds_end": null,
"cds_length": 699,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001434664.1",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001421593.1",
"strand": true,
"transcript": "NM_001434664.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 218,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3779,
"cdna_start": 75,
"cds_end": null,
"cds_length": 657,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001434665.1",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001421594.1",
"strand": true,
"transcript": "NM_001434665.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 218,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3185,
"cdna_start": 77,
"cds_end": null,
"cds_length": 657,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000562684.5",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457694.1",
"strand": true,
"transcript": "ENST00000562684.5",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 204,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2465,
"cdna_start": 75,
"cds_end": null,
"cds_length": 615,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001434666.1",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001421595.1",
"strand": true,
"transcript": "NM_001434666.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 190,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1206,
"cdna_start": 75,
"cds_end": null,
"cds_length": 573,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000932378.1",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602437.1",
"strand": true,
"transcript": "ENST00000932378.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 190,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1380,
"cdna_start": 75,
"cds_end": null,
"cds_length": 573,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000932379.1",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000602438.1",
"strand": true,
"transcript": "ENST00000932379.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 189,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 593,
"cdna_start": 64,
"cds_end": null,
"cds_length": 570,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000566742.5",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000454567.1",
"strand": true,
"transcript": "ENST00000566742.5",
"transcript_support_level": 4
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 187,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 75,
"cds_end": null,
"cds_length": 564,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000906367.1",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000576426.1",
"strand": true,
"transcript": "ENST00000906367.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 151,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1176,
"cdna_start": 75,
"cds_end": null,
"cds_length": 456,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_001434668.1",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001421597.1",
"strand": true,
"transcript": "NM_001434668.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 98,
"aa_ref": "S",
"aa_start": 14,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 782,
"cdna_start": 41,
"cds_end": null,
"cds_length": 297,
"cds_start": 41,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000569765.5",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.41C>T",
"hgvs_p": "p.Ser14Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457536.1",
"strand": true,
"transcript": "ENST00000569765.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 174,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 894,
"cdna_start": null,
"cds_end": null,
"cds_length": 525,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000382711.9",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "c.-89+32C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000372158.5",
"strand": true,
"transcript": "ENST00000382711.9",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 570,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000566925.5",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "n.41C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000456487.1",
"strand": true,
"transcript": "ENST00000566925.5",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 857,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000567717.1",
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"hgvs_c": "n.78C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000567717.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1030958285",
"effect": "missense_variant",
"frequency_reference_population": 9.255334e-7,
"gene_hgnc_id": 14137,
"gene_symbol": "JPT2",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 9.25533e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 1.563,
"pos": 1678353,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.157,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.05000000074505806,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.05,
"transcript": "NM_001434664.1"
}
]
}