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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: 1-11139590-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11139590&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11139590,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000361445.9",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4941T>G",
"hgvs_p": "p.His1647Gln",
"transcript": "NM_004958.4",
"protein_id": "NP_004949.1",
"transcript_support_level": null,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4941,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 5062,
"cdna_end": null,
"cdna_length": 8721,
"mane_select": "ENST00000361445.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4941T>G",
"hgvs_p": "p.His1647Gln",
"transcript": "ENST00000361445.9",
"protein_id": "ENSP00000354558.4",
"transcript_support_level": 1,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4941,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 5062,
"cdna_end": null,
"cdna_length": 8721,
"mane_select": "NM_004958.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4941T>G",
"hgvs_p": "p.His1647Gln",
"transcript": "NM_001386500.1",
"protein_id": "NP_001373429.1",
"transcript_support_level": null,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4941,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 5089,
"cdna_end": null,
"cdna_length": 8748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4941T>G",
"hgvs_p": "p.His1647Gln",
"transcript": "ENST00000703143.2",
"protein_id": "ENSP00000515200.2",
"transcript_support_level": null,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2549,
"cds_start": 4941,
"cds_end": null,
"cds_length": 7650,
"cdna_start": 5270,
"cdna_end": null,
"cdna_length": 8929,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4728T>G",
"hgvs_p": "p.His1576Gln",
"transcript": "ENST00000703140.1",
"protein_id": "ENSP00000515197.1",
"transcript_support_level": null,
"aa_start": 1576,
"aa_end": null,
"aa_length": 2478,
"cds_start": 4728,
"cds_end": null,
"cds_length": 7437,
"cdna_start": 4828,
"cdna_end": null,
"cdna_length": 8487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.3693T>G",
"hgvs_p": "p.His1231Gln",
"transcript": "NM_001386501.1",
"protein_id": "NP_001373430.1",
"transcript_support_level": null,
"aa_start": 1231,
"aa_end": null,
"aa_length": 2133,
"cds_start": 3693,
"cds_end": null,
"cds_length": 6402,
"cdna_start": 4953,
"cdna_end": null,
"cdna_length": 8612,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4941T>G",
"hgvs_p": "p.His1647Gln",
"transcript": "XM_047416721.1",
"protein_id": "XP_047272677.1",
"transcript_support_level": null,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2328,
"cds_start": 4941,
"cds_end": null,
"cds_length": 6987,
"cdna_start": 5062,
"cdna_end": null,
"cdna_length": 7207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.4260T>G",
"hgvs_p": "p.His1420Gln",
"transcript": "XM_017000900.1",
"protein_id": "XP_016856389.1",
"transcript_support_level": null,
"aa_start": 1420,
"aa_end": null,
"aa_length": 2322,
"cds_start": 4260,
"cds_end": null,
"cds_length": 6969,
"cdna_start": 4525,
"cdna_end": null,
"cdna_length": 8184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.2676T>G",
"hgvs_p": "p.His892Gln",
"transcript": "XM_047416724.1",
"protein_id": "XP_047272680.1",
"transcript_support_level": null,
"aa_start": 892,
"aa_end": null,
"aa_length": 1794,
"cds_start": 2676,
"cds_end": null,
"cds_length": 5385,
"cdna_start": 2757,
"cdna_end": null,
"cdna_length": 6416,
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.71T>G",
"hgvs_p": null,
"transcript": "ENST00000476768.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 610,
"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": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.447T>G",
"hgvs_p": null,
"transcript": "ENST00000495435.1",
"protein_id": null,
"transcript_support_level": 4,
"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": 2356,
"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": 34,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*316T>G",
"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": 8,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.861T>G",
"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": 35,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.4941T>G",
"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": 35,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*261T>G",
"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": 34,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*1771T>G",
"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": 35,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.5062T>G",
"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": 34,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*316T>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*261T>G",
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*1771T>G",
"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": "rs144984370",
"frequency_reference_population": 0.00048259558,
"hom_count_reference_population": 2,
"allele_count_reference_population": 779,
"gnomad_exomes_af": 0.000506877,
"gnomad_genomes_af": 0.000249517,
"gnomad_exomes_ac": 741,
"gnomad_genomes_ac": 38,
"gnomad_exomes_homalt": 2,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3721693754196167,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.432,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0813,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.109,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000361445.9",
"gene_symbol": "MTOR",
"hgnc_id": 3942,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4941T>G",
"hgvs_p": "p.His1647Gln"
}
],
"clinvar_disease": "MTOR-related disorder,not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not provided|MTOR-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}