← 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: 8-144474975-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144474975&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144474975,
"ref": "G",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_003923.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.361C>A",
"hgvs_p": "p.Arg121Arg",
"transcript": "NM_003923.3",
"protein_id": "NP_003914.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 365,
"cds_start": 361,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": "ENST00000377317.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003923.3"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.361C>A",
"hgvs_p": "p.Arg121Arg",
"transcript": "ENST00000377317.5",
"protein_id": "ENSP00000366534.4",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 365,
"cds_start": 361,
"cds_end": null,
"cds_length": 1098,
"cdna_start": 454,
"cdna_end": null,
"cdna_length": 2017,
"mane_select": "NM_003923.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377317.5"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.352C>A",
"hgvs_p": "p.Arg118Arg",
"transcript": "ENST00000935088.1",
"protein_id": "ENSP00000605147.1",
"transcript_support_level": null,
"aa_start": 118,
"aa_end": null,
"aa_length": 362,
"cds_start": 352,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 449,
"cdna_end": null,
"cdna_length": 1692,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935088.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.349C>A",
"hgvs_p": "p.Arg117Arg",
"transcript": "ENST00000935090.1",
"protein_id": "ENSP00000605149.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 361,
"cds_start": 349,
"cds_end": null,
"cds_length": 1086,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 1684,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935090.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Arg115Arg",
"transcript": "ENST00000935087.1",
"protein_id": "ENSP00000605146.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 359,
"cds_start": 343,
"cds_end": null,
"cds_length": 1080,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935087.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.256C>A",
"hgvs_p": "p.Arg86Arg",
"transcript": "ENST00000935089.1",
"protein_id": "ENSP00000605148.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 330,
"cds_start": 256,
"cds_end": null,
"cds_length": 993,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 1595,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935089.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "c.229C>A",
"hgvs_p": "p.Arg77Arg",
"transcript": "ENST00000935086.1",
"protein_id": "ENSP00000605145.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 321,
"cds_start": 229,
"cds_end": null,
"cds_length": 966,
"cdna_start": 346,
"cdna_end": null,
"cdna_length": 1589,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935086.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"hgvs_c": "n.390C>A",
"hgvs_p": null,
"transcript": "ENST00000525197.1",
"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": 492,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000525197.1"
}
],
"gene_symbol": "FOXH1",
"gene_hgnc_id": 3814,
"dbsnp": "rs371301968",
"frequency_reference_population": 0.00044790772,
"hom_count_reference_population": 4,
"allele_count_reference_population": 720,
"gnomad_exomes_af": 0.000456322,
"gnomad_genomes_af": 0.000367551,
"gnomad_exomes_ac": 664,
"gnomad_genomes_ac": 56,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.869,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003923.3",
"gene_symbol": "FOXH1",
"hgnc_id": 3814,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.361C>A",
"hgvs_p": "p.Arg121Arg"
}
],
"clinvar_disease": "Holoprosencephaly sequence,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|Holoprosencephaly sequence|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}