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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: 5-38946520-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=38946520&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 38946520,
"ref": "GT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_001285439.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4346delA",
"hgvs_p": "p.Asn1449fs",
"transcript": "NM_152756.5",
"protein_id": "NP_689969.2",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1708,
"cds_start": 4346,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000357387.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152756.5"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4346delA",
"hgvs_p": "p.Asn1449fs",
"transcript": "ENST00000357387.8",
"protein_id": "ENSP00000349959.3",
"transcript_support_level": 1,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1708,
"cds_start": 4346,
"cds_end": null,
"cds_length": 5127,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152756.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357387.8"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4418delA",
"hgvs_p": "p.Asn1473fs",
"transcript": "ENST00000296782.10",
"protein_id": "ENSP00000296782.5",
"transcript_support_level": 1,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4418,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296782.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "n.*3570delA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511516.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "n.*3570delA",
"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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000511516.5"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4418delA",
"hgvs_p": "p.Asn1473fs",
"transcript": "NM_001285439.2",
"protein_id": "NP_001272368.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1732,
"cds_start": 4418,
"cds_end": null,
"cds_length": 5199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285439.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4370delA",
"hgvs_p": "p.Asn1457fs",
"transcript": "NM_001438246.1",
"protein_id": "NP_001425175.1",
"transcript_support_level": null,
"aa_start": 1457,
"aa_end": null,
"aa_length": 1716,
"cds_start": 4370,
"cds_end": null,
"cds_length": 5151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438246.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4418delA",
"hgvs_p": "p.Asn1473fs",
"transcript": "NM_001438007.1",
"protein_id": "NP_001424936.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1694,
"cds_start": 4418,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438007.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4418delA",
"hgvs_p": "p.Asn1473fs",
"transcript": "ENST00000711063.1",
"protein_id": "ENSP00000518562.1",
"transcript_support_level": null,
"aa_start": 1473,
"aa_end": null,
"aa_length": 1694,
"cds_start": 4418,
"cds_end": null,
"cds_length": 5085,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000711063.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4298delA",
"hgvs_p": "p.Asn1433fs",
"transcript": "NM_001438049.1",
"protein_id": "NP_001424978.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4298,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438049.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4298delA",
"hgvs_p": "p.Asn1433fs",
"transcript": "ENST00000514735.2",
"protein_id": "ENSP00000423162.2",
"transcript_support_level": 3,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1692,
"cds_start": 4298,
"cds_end": null,
"cds_length": 5079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000514735.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4370delA",
"hgvs_p": "p.Asn1457fs",
"transcript": "NM_001438247.1",
"protein_id": "NP_001425176.1",
"transcript_support_level": null,
"aa_start": 1457,
"aa_end": null,
"aa_length": 1678,
"cds_start": 4370,
"cds_end": null,
"cds_length": 5037,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438247.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4346delA",
"hgvs_p": "p.Asn1449fs",
"transcript": "NM_001438248.1",
"protein_id": "NP_001425177.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4346,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438248.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4346delA",
"hgvs_p": "p.Asn1449fs",
"transcript": "ENST00000857125.1",
"protein_id": "ENSP00000527184.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1670,
"cds_start": 4346,
"cds_end": null,
"cds_length": 5013,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857125.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4298delA",
"hgvs_p": "p.Asn1433fs",
"transcript": "NM_001438249.1",
"protein_id": "NP_001425178.1",
"transcript_support_level": null,
"aa_start": 1433,
"aa_end": null,
"aa_length": 1654,
"cds_start": 4298,
"cds_end": null,
"cds_length": 4965,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438249.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.3491delA",
"hgvs_p": "p.Asn1164fs",
"transcript": "NM_001285440.2",
"protein_id": "NP_001272369.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3491,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001285440.2"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4259delA",
"hgvs_p": "p.Asn1420fs",
"transcript": "XM_047417068.1",
"protein_id": "XP_047273024.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 1679,
"cds_start": 4259,
"cds_end": null,
"cds_length": 5040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417068.1"
},
{
"aa_ref": "N",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"hgvs_c": "c.4229delA",
"hgvs_p": "p.Asn1410fs",
"transcript": "XM_011514006.4",
"protein_id": "XP_011512308.1",
"transcript_support_level": null,
"aa_start": 1410,
"aa_end": null,
"aa_length": 1669,
"cds_start": 4229,
"cds_end": null,
"cds_length": 5010,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514006.4"
}
],
"gene_symbol": "RICTOR",
"gene_hgnc_id": 28611,
"dbsnp": "rs1554059320",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.695,
"phylop100way_prediction": "Benign",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001285439.2",
"gene_symbol": "RICTOR",
"hgnc_id": 28611,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.4418delA",
"hgvs_p": "p.Asn1473fs"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}