← Back to variant description
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: 19-49395792-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=49395792&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 49395792,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_144688.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile",
"transcript": "NM_144688.5",
"protein_id": "NP_653289.3",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 562,
"cds_start": 359,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000447857.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_144688.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile",
"transcript": "ENST00000447857.8",
"protein_id": "ENSP00000404220.2",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 562,
"cds_start": 359,
"cds_end": null,
"cds_length": 1689,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_144688.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447857.8"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.248C>T",
"hgvs_p": "p.Thr83Ile",
"transcript": "ENST00000600570.1",
"protein_id": "ENSP00000470819.1",
"transcript_support_level": 2,
"aa_start": 83,
"aa_end": null,
"aa_length": 523,
"cds_start": 248,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000600570.1"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile",
"transcript": "ENST00000594043.5",
"protein_id": "ENSP00000469435.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 192,
"cds_start": 359,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000594043.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Ile",
"transcript": "ENST00000595828.5",
"protein_id": "ENSP00000471777.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 187,
"cds_start": 317,
"cds_end": null,
"cds_length": 565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595828.5"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile",
"transcript": "XM_011526488.3",
"protein_id": "XP_011524790.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 563,
"cds_start": 359,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526488.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile",
"transcript": "XM_011526489.4",
"protein_id": "XP_011524791.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 563,
"cds_start": 359,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526489.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile",
"transcript": "XM_011526497.3",
"protein_id": "XP_011524799.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 563,
"cds_start": 359,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526497.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile",
"transcript": "XM_011526490.3",
"protein_id": "XP_011524792.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 561,
"cds_start": 359,
"cds_end": null,
"cds_length": 1686,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526490.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.341C>T",
"hgvs_p": "p.Thr114Ile",
"transcript": "XM_017026333.2",
"protein_id": "XP_016881822.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 557,
"cds_start": 341,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017026333.2"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile",
"transcript": "XM_005258549.4",
"protein_id": "XP_005258606.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 554,
"cds_start": 359,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005258549.4"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.317C>T",
"hgvs_p": "p.Thr106Ile",
"transcript": "XM_011526494.3",
"protein_id": "XP_011524796.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 549,
"cds_start": 317,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526494.3"
},
{
"aa_ref": "T",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.278C>T",
"hgvs_p": "p.Thr93Ile",
"transcript": "XM_011526495.3",
"protein_id": "XP_011524797.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 536,
"cds_start": 278,
"cds_end": null,
"cds_length": 1611,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526495.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "n.101C>T",
"hgvs_p": null,
"transcript": "ENST00000596130.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596130.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "n.1277C>T",
"hgvs_p": null,
"transcript": "ENST00000596771.5",
"protein_id": null,
"transcript_support_level": 2,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000596771.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"hgvs_c": "c.*3C>T",
"hgvs_p": null,
"transcript": "ENST00000598730.5",
"protein_id": "ENSP00000469367.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 90,
"cds_start": null,
"cds_end": null,
"cds_length": 275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000598730.5"
}
],
"gene_symbol": "KASH5",
"gene_hgnc_id": 26520,
"dbsnp": "rs777705158",
"frequency_reference_population": 0.000053064916,
"hom_count_reference_population": 0,
"allele_count_reference_population": 83,
"gnomad_exomes_af": 0.0000538261,
"gnomad_genomes_af": 0.0000460018,
"gnomad_exomes_ac": 76,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18560791015625,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.075,
"revel_prediction": "Benign",
"alphamissense_score": 0.1707,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.165,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"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_144688.5",
"gene_symbol": "KASH5",
"hgnc_id": 26520,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.359C>T",
"hgvs_p": "p.Thr120Ile"
}
],
"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
}