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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: 22-39138655-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39138655&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39138655,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_175709.5",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "NM_175709.5",
"protein_id": "NP_783640.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 251,
"cds_start": 227,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216133.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175709.5"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "ENST00000216133.10",
"protein_id": "ENSP00000216133.5",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 251,
"cds_start": 227,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175709.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216133.10"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "ENST00000401405.7",
"protein_id": "ENSP00000384035.3",
"transcript_support_level": 1,
"aa_start": 76,
"aa_end": null,
"aa_length": 158,
"cds_start": 227,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401405.7"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Pro102Arg",
"transcript": "ENST00000858784.1",
"protein_id": "ENSP00000528843.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 277,
"cds_start": 305,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858784.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.251C>G",
"hgvs_p": "p.Pro84Arg",
"transcript": "ENST00000858777.1",
"protein_id": "ENSP00000528836.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 259,
"cds_start": 251,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858777.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.251C>G",
"hgvs_p": "p.Pro84Arg",
"transcript": "ENST00000858781.1",
"protein_id": "ENSP00000528840.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 258,
"cds_start": 251,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858781.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "NM_001346743.2",
"protein_id": "NP_001333672.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 250,
"cds_start": 227,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346743.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "ENST00000858776.1",
"protein_id": "ENSP00000528835.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 250,
"cds_start": 227,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858776.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.251C>G",
"hgvs_p": "p.Pro84Arg",
"transcript": "ENST00000944730.1",
"protein_id": "ENSP00000614789.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 200,
"cds_start": 251,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944730.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.251C>G",
"hgvs_p": "p.Pro84Arg",
"transcript": "ENST00000858782.1",
"protein_id": "ENSP00000528841.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 199,
"cds_start": 251,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858782.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "ENST00000858778.1",
"protein_id": "ENSP00000528837.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 192,
"cds_start": 227,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858778.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "ENST00000858780.1",
"protein_id": "ENSP00000528839.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 191,
"cds_start": 227,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858780.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "ENST00000944729.1",
"protein_id": "ENSP00000614788.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 178,
"cds_start": 227,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944729.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.251C>G",
"hgvs_p": "p.Pro84Arg",
"transcript": "ENST00000944731.1",
"protein_id": "ENSP00000614790.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 166,
"cds_start": 251,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944731.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.251C>G",
"hgvs_p": "p.Pro84Arg",
"transcript": "ENST00000858783.1",
"protein_id": "ENSP00000528842.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 165,
"cds_start": 251,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858783.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "NM_001346744.2",
"protein_id": "NP_001333673.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 158,
"cds_start": 227,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346744.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg",
"transcript": "ENST00000858779.1",
"protein_id": "ENSP00000528838.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 157,
"cds_start": 227,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858779.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "ENST00000944728.1",
"protein_id": "ENSP00000614787.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 136,
"cds_start": 161,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944728.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.161C>G",
"hgvs_p": "p.Pro54Arg",
"transcript": "ENST00000434260.1",
"protein_id": "ENSP00000410896.1",
"transcript_support_level": 3,
"aa_start": 54,
"aa_end": null,
"aa_length": 120,
"cds_start": 161,
"cds_end": null,
"cds_length": 364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434260.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "n.44+11134C>G",
"hgvs_p": null,
"transcript": "ENST00000475962.5",
"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": "ENST00000475962.5"
}
],
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"dbsnp": "rs193920857",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4156803488731384,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.245,
"revel_prediction": "Benign",
"alphamissense_score": 0.7421,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.255,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.04,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_175709.5",
"gene_symbol": "CBX7",
"hgnc_id": 1557,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.227C>G",
"hgvs_p": "p.Pro76Arg"
}
],
"clinvar_disease": "Prostate cancer",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Prostate cancer",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}