← 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: 7-6187667-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6187667&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CYTH3",
"hgnc_id": 9504,
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Val58Ile",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -2,
"transcript": "NM_004227.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_score": -2,
"allele_count_reference_population": 35,
"alphamissense_prediction": null,
"alphamissense_score": 0.0751,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.64,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.07176005840301514,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 399,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4482,
"cdna_start": 289,
"cds_end": null,
"cds_length": 1200,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004227.4",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Val58Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000350796.8",
"protein_coding": true,
"protein_id": "NP_004218.1",
"strand": false,
"transcript": "NM_004227.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 399,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4482,
"cdna_start": 289,
"cds_end": null,
"cds_length": 1200,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000350796.8",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Val58Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004227.4",
"protein_coding": true,
"protein_id": "ENSP00000297044.7",
"strand": false,
"transcript": "ENST00000350796.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 445,
"aa_ref": "V",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2270,
"cdna_start": 382,
"cds_end": null,
"cds_length": 1338,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898314.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Val104Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568373.1",
"strand": false,
"transcript": "ENST00000898314.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 430,
"aa_ref": "V",
"aa_start": 89,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4596,
"cdna_start": 403,
"cds_end": null,
"cds_length": 1293,
"cds_start": 265,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898313.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.265G>A",
"hgvs_p": "p.Val89Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568372.1",
"strand": false,
"transcript": "ENST00000898313.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 416,
"aa_ref": "V",
"aa_start": 75,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4559,
"cdna_start": 366,
"cds_end": null,
"cds_length": 1251,
"cds_start": 223,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000898310.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.223G>A",
"hgvs_p": "p.Val75Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568369.1",
"strand": false,
"transcript": "ENST00000898310.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 415,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4554,
"cdna_start": 310,
"cds_end": null,
"cds_length": 1248,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000898311.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Val58Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568370.1",
"strand": false,
"transcript": "ENST00000898311.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 372,
"aa_ref": "V",
"aa_start": 58,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4406,
"cdna_start": 298,
"cds_end": null,
"cds_length": 1119,
"cds_start": 172,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949556.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.172G>A",
"hgvs_p": "p.Val58Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619615.1",
"strand": false,
"transcript": "ENST00000949556.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 314,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5404,
"cdna_start": null,
"cds_end": null,
"cds_length": 945,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 13,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001367580.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.-1006G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354509.1",
"strand": false,
"transcript": "NM_001367580.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 232,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4705,
"cdna_start": null,
"cds_end": null,
"cds_length": 699,
"cds_start": null,
"consequences": [
"5_prime_UTR_variant"
],
"exon_count": 14,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001367581.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.-553G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354510.1",
"strand": false,
"transcript": "NM_001367581.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 355,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4374,
"cdna_start": null,
"cds_end": null,
"cds_length": 1068,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000898312.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "c.117+2782G>A",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000568371.1",
"strand": false,
"transcript": "ENST00000898312.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 557,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000482460.1",
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"hgvs_c": "n.494G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000482460.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs142012512",
"effect": "missense_variant",
"frequency_reference_population": 0.000021693748,
"gene_hgnc_id": 9504,
"gene_symbol": "CYTH3",
"gnomad_exomes_ac": 20,
"gnomad_exomes_af": 0.0000136871,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 15,
"gnomad_genomes_af": 0.0000985973,
"gnomad_genomes_homalt": 0,
"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": 2.073,
"pos": 6187667,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.136,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.009999999776482582,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.01,
"transcript": "NM_004227.4"
}
]
}