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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: 1-176884351-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=176884351&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 176884351,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004319.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3214A>C",
"hgvs_p": "p.Lys1072Gln",
"transcript": "NM_004319.3",
"protein_id": "NP_004310.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 7138,
"mane_select": "ENST00000361833.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3214A>C",
"hgvs_p": "p.Lys1072Gln",
"transcript": "ENST00000361833.7",
"protein_id": "ENSP00000354536.2",
"transcript_support_level": 1,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1294,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3885,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 7138,
"mane_select": "NM_004319.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3214A>C",
"hgvs_p": "p.Lys1072Gln",
"transcript": "ENST00000367657.7",
"protein_id": "ENSP00000356629.3",
"transcript_support_level": 1,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 3405,
"cdna_end": null,
"cdna_length": 4187,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3214A>C",
"hgvs_p": "p.Lys1072Gln",
"transcript": "ENST00000424564.2",
"protein_id": "ENSP00000395041.2",
"transcript_support_level": 1,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3221,
"cdna_end": null,
"cdna_length": 3685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3238A>C",
"hgvs_p": "p.Lys1080Gln",
"transcript": "NM_001364856.2",
"protein_id": "NP_001351785.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3238,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 7162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3238A>C",
"hgvs_p": "p.Lys1080Gln",
"transcript": "ENST00000850957.1",
"protein_id": "ENSP00000521041.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1302,
"cds_start": 3238,
"cds_end": null,
"cds_length": 3909,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 7162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3214A>C",
"hgvs_p": "p.Lys1072Gln",
"transcript": "NM_001286164.2",
"protein_id": "NP_001273093.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1228,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 4013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3214A>C",
"hgvs_p": "p.Lys1072Gln",
"transcript": "NM_207108.3",
"protein_id": "NP_996991.1",
"transcript_support_level": null,
"aa_start": 1072,
"aa_end": null,
"aa_length": 1216,
"cds_start": 3214,
"cds_end": null,
"cds_length": 3651,
"cdna_start": 3250,
"cdna_end": null,
"cdna_length": 3714,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"hgvs_c": "c.3238A>C",
"hgvs_p": "p.Lys1080Gln",
"transcript": "XM_017001341.3",
"protein_id": "XP_016856830.1",
"transcript_support_level": null,
"aa_start": 1080,
"aa_end": null,
"aa_length": 1236,
"cds_start": 3238,
"cds_end": null,
"cds_length": 3711,
"cdna_start": 3274,
"cdna_end": null,
"cdna_length": 4037,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ASTN1",
"gene_hgnc_id": 773,
"dbsnp": "rs558363072",
"frequency_reference_population": 0.000019825708,
"hom_count_reference_population": 0,
"allele_count_reference_population": 32,
"gnomad_exomes_af": 0.0000191554,
"gnomad_genomes_af": 0.0000262574,
"gnomad_exomes_ac": 28,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.31922751665115356,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.221,
"revel_prediction": "Benign",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.52,
"phylop100way_prediction": "Uncertain_significance",
"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": -1,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_by_gene": [
{
"score": -1,
"benign_score": 1,
"pathogenic_score": 0,
"criteria": [
"BP4"
],
"verdict": "Likely_benign",
"transcript": "NM_004319.3",
"gene_symbol": "ASTN1",
"hgnc_id": 773,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3214A>C",
"hgvs_p": "p.Lys1072Gln"
}
],
"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
}