← 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: 17-2299730-GTT-CGA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2299730&ref=GTT&alt=CGA&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "SMG6",
"hgnc_id": 17809,
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_017575.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CGA",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5974,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 4260,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017575.5",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000263073.11",
"protein_coding": true,
"protein_id": "NP_060045.4",
"strand": false,
"transcript": "NM_017575.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1419,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5974,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 4260,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000263073.11",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017575.5",
"protein_coding": true,
"protein_id": "ENSP00000263073.5",
"strand": false,
"transcript": "ENST00000263073.11",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1360,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5790,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 4083,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000883972.1",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554031.1",
"strand": false,
"transcript": "ENST00000883972.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1388,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6159,
"cdna_start": 1269,
"cds_end": null,
"cds_length": 4167,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005256569.5",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.928_930delAACinsTCG",
"hgvs_p": "p.Asn310Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005256626.1",
"strand": false,
"transcript": "XM_005256569.5",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1388,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6121,
"cdna_start": 1231,
"cds_end": null,
"cds_length": 4167,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011523769.3",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.928_930delAACinsTCG",
"hgvs_p": "p.Asn310Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522071.1",
"strand": false,
"transcript": "XM_011523769.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1388,
"aa_ref": "N",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5968,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 4167,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435696.1",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.928_930delAACinsTCG",
"hgvs_p": "p.Asn310Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291652.1",
"strand": false,
"transcript": "XM_047435696.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1119,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3443,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 3360,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435697.1",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291653.1",
"strand": false,
"transcript": "XM_047435697.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 961,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4952,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 2886,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011523772.3",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522074.1",
"strand": false,
"transcript": "XM_011523772.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 944,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4163,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 2835,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017024398.2",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016879887.1",
"strand": false,
"transcript": "XM_017024398.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 918,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 2757,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047435698.1",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047291654.1",
"strand": false,
"transcript": "XM_047435698.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 899,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2891,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 2700,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005256570.4",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005256627.1",
"strand": false,
"transcript": "XM_005256570.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 897,
"aa_ref": "N",
"aa_start": 341,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3943,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 2694,
"cds_start": 1021,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011523774.3",
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"hgvs_c": "c.1021_1023delAACinsTCG",
"hgvs_p": "p.Asn341Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011522076.1",
"strand": false,
"transcript": "XM_011523774.3",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 17809,
"gene_symbol": "SMG6",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"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": 3.369,
"pos": 2299730,
"ref": "GTT",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_017575.5"
}
]
}