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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: 14-105142773-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=105142773&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 105142773,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_002226.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3639C>G",
"hgvs_p": "p.Ala1213Ala",
"transcript": "NM_002226.5",
"protein_id": "NP_002217.3",
"transcript_support_level": null,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3639,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000331782.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002226.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3639C>G",
"hgvs_p": "p.Ala1213Ala",
"transcript": "ENST00000331782.8",
"protein_id": "ENSP00000328169.3",
"transcript_support_level": 1,
"aa_start": 1213,
"aa_end": null,
"aa_length": 1238,
"cds_start": 3639,
"cds_end": null,
"cds_length": 3717,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002226.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000331782.8"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3525C>G",
"hgvs_p": "p.Ala1175Ala",
"transcript": "ENST00000347004.2",
"protein_id": "ENSP00000328566.2",
"transcript_support_level": 1,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3525,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347004.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3642C>G",
"hgvs_p": "p.Ala1214Ala",
"transcript": "ENST00000938643.1",
"protein_id": "ENSP00000608702.1",
"transcript_support_level": null,
"aa_start": 1214,
"aa_end": null,
"aa_length": 1239,
"cds_start": 3642,
"cds_end": null,
"cds_length": 3720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938643.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3525C>G",
"hgvs_p": "p.Ala1175Ala",
"transcript": "NM_145159.3",
"protein_id": "NP_660142.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3525,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145159.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3525C>G",
"hgvs_p": "p.Ala1175Ala",
"transcript": "ENST00000938642.1",
"protein_id": "ENSP00000608701.1",
"transcript_support_level": null,
"aa_start": 1175,
"aa_end": null,
"aa_length": 1200,
"cds_start": 3525,
"cds_end": null,
"cds_length": 3603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938642.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3519C>G",
"hgvs_p": "p.Ala1173Ala",
"transcript": "ENST00000966345.1",
"protein_id": "ENSP00000636404.1",
"transcript_support_level": null,
"aa_start": 1173,
"aa_end": null,
"aa_length": 1198,
"cds_start": 3519,
"cds_end": null,
"cds_length": 3597,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966345.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3507C>G",
"hgvs_p": "p.Ala1169Ala",
"transcript": "ENST00000966337.1",
"protein_id": "ENSP00000636396.1",
"transcript_support_level": null,
"aa_start": 1169,
"aa_end": null,
"aa_length": 1194,
"cds_start": 3507,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966337.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3465C>G",
"hgvs_p": "p.Ala1155Ala",
"transcript": "ENST00000966339.1",
"protein_id": "ENSP00000636398.1",
"transcript_support_level": null,
"aa_start": 1155,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3465,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966339.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3411C>G",
"hgvs_p": "p.Ala1137Ala",
"transcript": "ENST00000966344.1",
"protein_id": "ENSP00000636403.1",
"transcript_support_level": null,
"aa_start": 1137,
"aa_end": null,
"aa_length": 1162,
"cds_start": 3411,
"cds_end": null,
"cds_length": 3489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966344.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3396C>G",
"hgvs_p": "p.Ala1132Ala",
"transcript": "ENST00000966340.1",
"protein_id": "ENSP00000636399.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1157,
"cds_start": 3396,
"cds_end": null,
"cds_length": 3474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966340.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3393C>G",
"hgvs_p": "p.Ala1131Ala",
"transcript": "ENST00000966341.1",
"protein_id": "ENSP00000636400.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1156,
"cds_start": 3393,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966341.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3282C>G",
"hgvs_p": "p.Ala1094Ala",
"transcript": "ENST00000966338.1",
"protein_id": "ENSP00000636397.1",
"transcript_support_level": null,
"aa_start": 1094,
"aa_end": null,
"aa_length": 1119,
"cds_start": 3282,
"cds_end": null,
"cds_length": 3360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966338.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3264C>G",
"hgvs_p": "p.Ala1088Ala",
"transcript": "ENST00000938644.1",
"protein_id": "ENSP00000608703.1",
"transcript_support_level": null,
"aa_start": 1088,
"aa_end": null,
"aa_length": 1113,
"cds_start": 3264,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000938644.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3150C>G",
"hgvs_p": "p.Ala1050Ala",
"transcript": "ENST00000966342.1",
"protein_id": "ENSP00000636401.1",
"transcript_support_level": null,
"aa_start": 1050,
"aa_end": null,
"aa_length": 1075,
"cds_start": 3150,
"cds_end": null,
"cds_length": 3228,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966342.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3108C>G",
"hgvs_p": "p.Ala1036Ala",
"transcript": "ENST00000966343.1",
"protein_id": "ENSP00000636402.1",
"transcript_support_level": null,
"aa_start": 1036,
"aa_end": null,
"aa_length": 1061,
"cds_start": 3108,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966343.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3297C>G",
"hgvs_p": "p.Ala1099Ala",
"transcript": "XM_047431352.1",
"protein_id": "XP_047287308.1",
"transcript_support_level": null,
"aa_start": 1099,
"aa_end": null,
"aa_length": 1124,
"cds_start": 3297,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431352.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "c.3183C>G",
"hgvs_p": "p.Ala1061Ala",
"transcript": "XM_047431353.1",
"protein_id": "XP_047287309.1",
"transcript_support_level": null,
"aa_start": 1061,
"aa_end": null,
"aa_length": 1086,
"cds_start": 3183,
"cds_end": null,
"cds_length": 3261,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431353.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"hgvs_c": "n.1257C>G",
"hgvs_p": null,
"transcript": "ENST00000546616.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000546616.1"
}
],
"gene_symbol": "JAG2",
"gene_hgnc_id": 6189,
"dbsnp": "rs368232652",
"frequency_reference_population": 0.000006568835,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000656883,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8700000047683716,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.87,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.643,
"phylop100way_prediction": "Benign",
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 5,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_002226.5",
"gene_symbol": "JAG2",
"hgnc_id": 6189,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3639C>G",
"hgvs_p": "p.Ala1213Ala"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}