← 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: 5-38955694-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=38955694&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 38955694,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000357387.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Ser837Cys",
"transcript": "NM_152756.5",
"protein_id": "NP_689969.2",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1708,
"cds_start": 2510,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 9533,
"mane_select": "ENST00000357387.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Ser837Cys",
"transcript": "ENST00000357387.8",
"protein_id": "ENSP00000349959.3",
"transcript_support_level": 1,
"aa_start": 837,
"aa_end": null,
"aa_length": 1708,
"cds_start": 2510,
"cds_end": null,
"cds_length": 5127,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 9533,
"mane_select": "NM_152756.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Ser837Cys",
"transcript": "ENST00000296782.10",
"protein_id": "ENSP00000296782.5",
"transcript_support_level": 1,
"aa_start": 837,
"aa_end": null,
"aa_length": 1732,
"cds_start": 2510,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 9605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "n.*1734C>G",
"hgvs_p": null,
"transcript": "ENST00000511516.5",
"protein_id": "ENSP00000423019.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "n.*1734C>G",
"hgvs_p": null,
"transcript": "ENST00000511516.5",
"protein_id": "ENSP00000423019.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7312,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Ser837Cys",
"transcript": "NM_001285439.2",
"protein_id": "NP_001272368.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1732,
"cds_start": 2510,
"cds_end": null,
"cds_length": 5199,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 9605,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2462C>G",
"hgvs_p": "p.Ser821Cys",
"transcript": "NM_001438246.1",
"protein_id": "NP_001425175.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1716,
"cds_start": 2462,
"cds_end": null,
"cds_length": 5151,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 9557,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Ser837Cys",
"transcript": "NM_001438007.1",
"protein_id": "NP_001424936.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1694,
"cds_start": 2510,
"cds_end": null,
"cds_length": 5085,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 9491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Ser837Cys",
"transcript": "ENST00000711063.1",
"protein_id": "ENSP00000518562.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1694,
"cds_start": 2510,
"cds_end": null,
"cds_length": 5085,
"cdna_start": 2535,
"cdna_end": null,
"cdna_length": 7251,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2462C>G",
"hgvs_p": "p.Ser821Cys",
"transcript": "NM_001438049.1",
"protein_id": "NP_001424978.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1692,
"cds_start": 2462,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 9485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2462C>G",
"hgvs_p": "p.Ser821Cys",
"transcript": "ENST00000514735.2",
"protein_id": "ENSP00000423162.2",
"transcript_support_level": 3,
"aa_start": 821,
"aa_end": null,
"aa_length": 1692,
"cds_start": 2462,
"cds_end": null,
"cds_length": 5079,
"cdna_start": 2480,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2462C>G",
"hgvs_p": "p.Ser821Cys",
"transcript": "NM_001438247.1",
"protein_id": "NP_001425176.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1678,
"cds_start": 2462,
"cds_end": null,
"cds_length": 5037,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 9443,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Ser837Cys",
"transcript": "NM_001438248.1",
"protein_id": "NP_001425177.1",
"transcript_support_level": null,
"aa_start": 837,
"aa_end": null,
"aa_length": 1670,
"cds_start": 2510,
"cds_end": null,
"cds_length": 5013,
"cdna_start": 2532,
"cdna_end": null,
"cdna_length": 9419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2462C>G",
"hgvs_p": "p.Ser821Cys",
"transcript": "NM_001438249.1",
"protein_id": "NP_001425178.1",
"transcript_support_level": null,
"aa_start": 821,
"aa_end": null,
"aa_length": 1654,
"cds_start": 2462,
"cds_end": null,
"cds_length": 4965,
"cdna_start": 2484,
"cdna_end": null,
"cdna_length": 9371,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.1655C>G",
"hgvs_p": "p.Ser552Cys",
"transcript": "NM_001285440.2",
"protein_id": "NP_001272369.1",
"transcript_support_level": null,
"aa_start": 552,
"aa_end": null,
"aa_length": 1385,
"cds_start": 1655,
"cds_end": null,
"cds_length": 4158,
"cdna_start": 2530,
"cdna_end": null,
"cdna_length": 9417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.470C>G",
"hgvs_p": "p.Ser157Cys",
"transcript": "ENST00000503698.2",
"protein_id": "ENSP00000518563.1",
"transcript_support_level": 5,
"aa_start": 157,
"aa_end": null,
"aa_length": 245,
"cds_start": 470,
"cds_end": null,
"cds_length": 738,
"cdna_start": 470,
"cdna_end": null,
"cdna_length": 738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2351C>G",
"hgvs_p": "p.Ser784Cys",
"transcript": "XM_047417068.1",
"protein_id": "XP_047273024.1",
"transcript_support_level": null,
"aa_start": 784,
"aa_end": null,
"aa_length": 1679,
"cds_start": 2351,
"cds_end": null,
"cds_length": 5040,
"cdna_start": 2614,
"cdna_end": null,
"cdna_length": 9687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.2321C>G",
"hgvs_p": "p.Ser774Cys",
"transcript": "XM_011514006.4",
"protein_id": "XP_011512308.1",
"transcript_support_level": null,
"aa_start": 774,
"aa_end": null,
"aa_length": 1669,
"cds_start": 2321,
"cds_end": null,
"cds_length": 5010,
"cdna_start": 2338,
"cdna_end": null,
"cdna_length": 9411,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"dbsnp": "rs2043112",
"frequency_reference_population": 0.0000014102801,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000141028,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.285092294216156,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.0619,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.206,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 1,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000357387.8",
"gene_symbol": "RICTOR",
"hgnc_id": 28611,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.2510C>G",
"hgvs_p": "p.Ser837Cys"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}