← 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: 7-6190480-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=6190480&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 6190480,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004227.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "NM_004227.4",
"protein_id": "NP_004218.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 399,
"cds_start": 86,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350796.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004227.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000350796.8",
"protein_id": "ENSP00000297044.7",
"transcript_support_level": 1,
"aa_start": 29,
"aa_end": null,
"aa_length": 399,
"cds_start": 86,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004227.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350796.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.224G>A",
"hgvs_p": "p.Arg75Gln",
"transcript": "ENST00000898314.1",
"protein_id": "ENSP00000568373.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 445,
"cds_start": 224,
"cds_end": null,
"cds_length": 1338,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898314.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.179G>A",
"hgvs_p": "p.Arg60Gln",
"transcript": "ENST00000898313.1",
"protein_id": "ENSP00000568372.1",
"transcript_support_level": null,
"aa_start": 60,
"aa_end": null,
"aa_length": 430,
"cds_start": 179,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898313.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.137G>A",
"hgvs_p": "p.Arg46Gln",
"transcript": "ENST00000898310.1",
"protein_id": "ENSP00000568369.1",
"transcript_support_level": null,
"aa_start": 46,
"aa_end": null,
"aa_length": 416,
"cds_start": 137,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898310.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000898311.1",
"protein_id": "ENSP00000568370.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 415,
"cds_start": 86,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898311.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000949556.1",
"protein_id": "ENSP00000619615.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 372,
"cds_start": 86,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949556.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln",
"transcript": "ENST00000898312.1",
"protein_id": "ENSP00000568371.1",
"transcript_support_level": null,
"aa_start": 29,
"aa_end": null,
"aa_length": 355,
"cds_start": 86,
"cds_end": null,
"cds_length": 1068,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898312.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.-1092G>A",
"hgvs_p": null,
"transcript": "NM_001367580.1",
"protein_id": "NP_001354509.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 314,
"cds_start": null,
"cds_end": null,
"cds_length": 945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367580.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "c.-639G>A",
"hgvs_p": null,
"transcript": "NM_001367581.1",
"protein_id": "NP_001354510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 232,
"cds_start": null,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367581.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"hgvs_c": "n.223G>A",
"hgvs_p": null,
"transcript": "ENST00000482460.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000482460.1"
}
],
"gene_symbol": "CYTH3",
"gene_hgnc_id": 9504,
"dbsnp": "rs375159013",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.000111307,
"gnomad_genomes_af": 0.000106878,
"gnomad_exomes_ac": 138,
"gnomad_genomes_ac": 12,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24633947014808655,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.1051,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.174,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_004227.4",
"gene_symbol": "CYTH3",
"hgnc_id": 9504,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Arg29Gln"
}
],
"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
}