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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: 1-11157255-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11157255&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11157255,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000361445.9",
"consequences": [
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Trp1456Arg",
"transcript": "NM_004958.4",
"protein_id": "NP_004949.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4366,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 4487,
"cdna_end": null,
"cdna_length": 8721,
"mane_select": "ENST00000361445.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Trp1456Arg",
"transcript": "ENST00000361445.9",
"protein_id": "ENSP00000354558.4",
"transcript_support_level": 1,
"aa_start": 1456,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4366,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 4487,
"cdna_end": null,
"cdna_length": 8721,
"mane_select": "NM_004958.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Trp1456Arg",
"transcript": "NM_001386500.1",
"protein_id": "NP_001373429.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4366,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 4514,
"cdna_end": null,
"cdna_length": 8748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Trp1456Arg",
"transcript": "ENST00000703143.2",
"protein_id": "ENSP00000515200.2",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4366,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 4695,
"cdna_end": null,
"cdna_length": 8929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4153T>C",
"hgvs_p": "p.Trp1385Arg",
"transcript": "ENST00000703140.1",
"protein_id": "ENSP00000515197.1",
"transcript_support_level": null,
"aa_start": 1385,
"aa_end": null,
"aa_length": 2478,
"cds_start": 4153,
"cds_end": null,
"cds_length": 7437,
"cdna_start": 4253,
"cdna_end": null,
"cdna_length": 8487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.3118T>C",
"hgvs_p": "p.Trp1040Arg",
"transcript": "NM_001386501.1",
"protein_id": "NP_001373430.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 2133,
"cds_start": 3118,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 4378,
"cdna_end": null,
"cdna_length": 8612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Trp1456Arg",
"transcript": "XM_047416721.1",
"protein_id": "XP_047272677.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4366,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 4487,
"cdna_end": null,
"cdna_length": 7207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.3685T>C",
"hgvs_p": "p.Trp1229Arg",
"transcript": "XM_017000900.1",
"protein_id": "XP_016856389.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 2322,
"cds_start": 3685,
"cds_end": null,
"cds_length": 6969,
"cdna_start": 3950,
"cdna_end": null,
"cdna_length": 8184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2101T>C",
"hgvs_p": "p.Trp701Arg",
"transcript": "XM_047416724.1",
"protein_id": "XP_047272680.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 1794,
"cds_start": 2101,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 2182,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "W",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Trp1456Arg",
"transcript": "XM_011541166.3",
"protein_id": "XP_011539468.1",
"transcript_support_level": null,
"aa_start": 1456,
"aa_end": null,
"aa_length": 1590,
"cds_start": 4366,
"cds_end": null,
"cds_length": 4773,
"cdna_start": 4487,
"cdna_end": null,
"cdna_length": 4911,
"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": 30,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.4366T>C",
"hgvs_p": null,
"transcript": "ENST00000703118.1",
"protein_id": "ENSP00000515181.1",
"transcript_support_level": null,
"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": 8528,
"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": 3,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.286T>C",
"hgvs_p": null,
"transcript": "ENST00000703131.1",
"protein_id": null,
"transcript_support_level": null,
"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": 4193,
"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": 30,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.4366T>C",
"hgvs_p": null,
"transcript": "ENST00000703139.2",
"protein_id": "ENSP00000515196.2",
"transcript_support_level": null,
"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": 8872,
"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": 30,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.4366T>C",
"hgvs_p": null,
"transcript": "ENST00000703141.1",
"protein_id": "ENSP00000515198.1",
"transcript_support_level": null,
"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": 9013,
"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": 29,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*1196T>C",
"hgvs_p": null,
"transcript": "ENST00000703142.1",
"protein_id": "ENSP00000515199.1",
"transcript_support_level": null,
"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": 8491,
"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": 30,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.4487T>C",
"hgvs_p": null,
"transcript": "XR_007058581.1",
"protein_id": null,
"transcript_support_level": null,
"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": 7324,
"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": 29,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*1196T>C",
"hgvs_p": null,
"transcript": "ENST00000703142.1",
"protein_id": "ENSP00000515199.1",
"transcript_support_level": null,
"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": 8491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"dbsnp": "rs1085307114",
"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": 0.9806740283966064,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.85,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9995,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.907,
"phylop100way_prediction": "Pathogenic",
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP3_Strong",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP3_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000361445.9",
"gene_symbol": "MTOR",
"hgnc_id": 3942,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4366T>C",
"hgvs_p": "p.Trp1456Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}