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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: 17-76531516-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=76531516&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 76531516,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_134268.5",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.319G>C",
"hgvs_p": "p.Ala107Pro",
"transcript": "NM_134268.5",
"protein_id": "NP_599030.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 190,
"cds_start": 319,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000293230.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_134268.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.319G>C",
"hgvs_p": "p.Ala107Pro",
"transcript": "ENST00000293230.10",
"protein_id": "ENSP00000293230.4",
"transcript_support_level": 1,
"aa_start": 107,
"aa_end": null,
"aa_length": 190,
"cds_start": 319,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_134268.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293230.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "n.45+3683C>G",
"hgvs_p": null,
"transcript": "ENST00000397633.7",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000397633.7"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.319G>C",
"hgvs_p": "p.Ala107Pro",
"transcript": "ENST00000589342.1",
"protein_id": "ENSP00000466448.1",
"transcript_support_level": 3,
"aa_start": 107,
"aa_end": null,
"aa_length": 226,
"cds_start": 319,
"cds_end": null,
"cds_length": 681,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589342.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Ala42Pro",
"transcript": "ENST00000589145.1",
"protein_id": "ENSP00000468559.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 125,
"cds_start": 124,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000589145.1"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Ala42Pro",
"transcript": "ENST00000590175.5",
"protein_id": "ENSP00000464817.1",
"transcript_support_level": 3,
"aa_start": 42,
"aa_end": null,
"aa_length": 125,
"cds_start": 124,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590175.5"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.319G>C",
"hgvs_p": "p.Ala107Pro",
"transcript": "XM_005257005.4",
"protein_id": "XP_005257062.1",
"transcript_support_level": null,
"aa_start": 107,
"aa_end": null,
"aa_length": 202,
"cds_start": 319,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005257005.4"
},
{
"aa_ref": "A",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"hgvs_c": "c.124G>C",
"hgvs_p": "p.Ala42Pro",
"transcript": "XM_017024116.2",
"protein_id": "XP_016879605.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 137,
"cds_start": 124,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017024116.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "n.248+3683C>G",
"hgvs_p": null,
"transcript": "ENST00000592432.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000592432.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PRCD",
"gene_hgnc_id": 32528,
"hgvs_c": "n.248+3683C>G",
"hgvs_p": null,
"transcript": "NR_033357.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_033357.2"
}
],
"gene_symbol": "CYGB",
"gene_hgnc_id": 16505,
"dbsnp": "rs773740203",
"frequency_reference_population": 6.8417893e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84179e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6990026235580444,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.61,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8882,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.213,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_134268.5",
"gene_symbol": "CYGB",
"hgnc_id": 16505,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.319G>C",
"hgvs_p": "p.Ala107Pro"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000397633.7",
"gene_symbol": "PRCD",
"hgnc_id": 32528,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "n.45+3683C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}