← 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: 19-17843825-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=17843825&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 17843825,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000458235.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Ile87Thr",
"transcript": "NM_000215.4",
"protein_id": "NP_000206.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1124,
"cds_start": 260,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 5386,
"mane_select": "ENST00000458235.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Ile87Thr",
"transcript": "ENST00000458235.7",
"protein_id": "ENSP00000391676.1",
"transcript_support_level": 5,
"aa_start": 87,
"aa_end": null,
"aa_length": 1124,
"cds_start": 260,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 5386,
"mane_select": "NM_000215.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Ile87Thr",
"transcript": "ENST00000527670.5",
"protein_id": "ENSP00000432511.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1124,
"cds_start": 260,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 290,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Ile87Thr",
"transcript": "ENST00000534444.1",
"protein_id": "ENSP00000436421.1",
"transcript_support_level": 1,
"aa_start": 87,
"aa_end": null,
"aa_length": 1094,
"cds_start": 260,
"cds_end": null,
"cds_length": 3285,
"cdna_start": 345,
"cdna_end": null,
"cdna_length": 3612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Ile87Thr",
"transcript": "NM_001440439.1",
"protein_id": "NP_001427368.1",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 1124,
"cds_start": 260,
"cds_end": null,
"cds_length": 3375,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Ile87Thr",
"transcript": "XM_011527991.3",
"protein_id": "XP_011526293.2",
"transcript_support_level": null,
"aa_start": 87,
"aa_end": null,
"aa_length": 607,
"cds_start": 260,
"cds_end": null,
"cds_length": 1824,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 2748,
"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": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "n.260T>C",
"hgvs_p": null,
"transcript": "ENST00000526008.6",
"protein_id": "ENSP00000513006.1",
"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": 4115,
"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": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "n.350T>C",
"hgvs_p": null,
"transcript": "ENST00000527031.5",
"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": 2809,
"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": 3,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "n.310T>C",
"hgvs_p": null,
"transcript": "XR_007066796.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2892,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"hgvs_c": "n.324-334T>C",
"hgvs_p": null,
"transcript": "ENST00000528293.1",
"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": 1173,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "JAK3",
"gene_hgnc_id": 6193,
"dbsnp": "rs1057519770",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24919617176055908,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.179,
"revel_prediction": "Benign",
"alphamissense_score": 0.2254,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 8.421,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.02,
"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": "ENST00000458235.7",
"gene_symbol": "JAK3",
"hgnc_id": 6193,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.260T>C",
"hgvs_p": "p.Ile87Thr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}