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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: 1-11114338-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=11114338&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 11114338,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_004958.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7280T>C",
"hgvs_p": "p.Leu2427Pro",
"transcript": "NM_004958.4",
"protein_id": "NP_004949.1",
"transcript_support_level": null,
"aa_start": 2427,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7280,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361445.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004958.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7280T>C",
"hgvs_p": "p.Leu2427Pro",
"transcript": "ENST00000361445.9",
"protein_id": "ENSP00000354558.4",
"transcript_support_level": 1,
"aa_start": 2427,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7280,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004958.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361445.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7334T>C",
"hgvs_p": "p.Leu2445Pro",
"transcript": "ENST00000934315.1",
"protein_id": "ENSP00000604374.1",
"transcript_support_level": null,
"aa_start": 2445,
"aa_end": null,
"aa_length": 2567,
"cds_start": 7334,
"cds_end": null,
"cds_length": 7704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934315.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7301T>C",
"hgvs_p": "p.Leu2434Pro",
"transcript": "ENST00000934312.1",
"protein_id": "ENSP00000604371.1",
"transcript_support_level": null,
"aa_start": 2434,
"aa_end": null,
"aa_length": 2556,
"cds_start": 7301,
"cds_end": null,
"cds_length": 7671,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934312.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7280T>C",
"hgvs_p": "p.Leu2427Pro",
"transcript": "NM_001386500.1",
"protein_id": "NP_001373429.1",
"transcript_support_level": null,
"aa_start": 2427,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7280,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386500.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7280T>C",
"hgvs_p": "p.Leu2427Pro",
"transcript": "ENST00000703143.2",
"protein_id": "ENSP00000515200.2",
"transcript_support_level": null,
"aa_start": 2427,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7280,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703143.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7280T>C",
"hgvs_p": "p.Leu2427Pro",
"transcript": "ENST00000934310.1",
"protein_id": "ENSP00000604369.1",
"transcript_support_level": null,
"aa_start": 2427,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7280,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934310.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7280T>C",
"hgvs_p": "p.Leu2427Pro",
"transcript": "ENST00000934314.1",
"protein_id": "ENSP00000604373.1",
"transcript_support_level": null,
"aa_start": 2427,
"aa_end": null,
"aa_length": 2549,
"cds_start": 7280,
"cds_end": null,
"cds_length": 7650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934314.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7271T>C",
"hgvs_p": "p.Leu2424Pro",
"transcript": "ENST00000875524.1",
"protein_id": "ENSP00000545583.1",
"transcript_support_level": null,
"aa_start": 2424,
"aa_end": null,
"aa_length": 2546,
"cds_start": 7271,
"cds_end": null,
"cds_length": 7641,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875524.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 53,
"exon_rank_end": null,
"exon_count": 58,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7244T>C",
"hgvs_p": "p.Leu2415Pro",
"transcript": "ENST00000875525.1",
"protein_id": "ENSP00000545584.1",
"transcript_support_level": null,
"aa_start": 2415,
"aa_end": null,
"aa_length": 2537,
"cds_start": 7244,
"cds_end": null,
"cds_length": 7614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000875525.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7193T>C",
"hgvs_p": "p.Leu2398Pro",
"transcript": "ENST00000934311.1",
"protein_id": "ENSP00000604370.1",
"transcript_support_level": null,
"aa_start": 2398,
"aa_end": null,
"aa_length": 2520,
"cds_start": 7193,
"cds_end": null,
"cds_length": 7563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934311.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 51,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7067T>C",
"hgvs_p": "p.Leu2356Pro",
"transcript": "ENST00000703140.1",
"protein_id": "ENSP00000515197.1",
"transcript_support_level": null,
"aa_start": 2356,
"aa_end": null,
"aa_length": 2478,
"cds_start": 7067,
"cds_end": null,
"cds_length": 7437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703140.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.7064T>C",
"hgvs_p": "p.Leu2355Pro",
"transcript": "ENST00000934313.1",
"protein_id": "ENSP00000604372.1",
"transcript_support_level": null,
"aa_start": 2355,
"aa_end": null,
"aa_length": 2477,
"cds_start": 7064,
"cds_end": null,
"cds_length": 7434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934313.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.6032T>C",
"hgvs_p": "p.Leu2011Pro",
"transcript": "NM_001386501.1",
"protein_id": "NP_001373430.1",
"transcript_support_level": null,
"aa_start": 2011,
"aa_end": null,
"aa_length": 2133,
"cds_start": 6032,
"cds_end": null,
"cds_length": 6402,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001386501.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 50,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.6599T>C",
"hgvs_p": "p.Leu2200Pro",
"transcript": "XM_017000900.1",
"protein_id": "XP_016856389.1",
"transcript_support_level": null,
"aa_start": 2200,
"aa_end": null,
"aa_length": 2322,
"cds_start": 6599,
"cds_end": null,
"cds_length": 6969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017000900.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "c.5015T>C",
"hgvs_p": "p.Leu1672Pro",
"transcript": "XM_047416724.1",
"protein_id": "XP_047272680.1",
"transcript_support_level": null,
"aa_start": 1672,
"aa_end": null,
"aa_length": 1794,
"cds_start": 5015,
"cds_end": null,
"cds_length": 5385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416724.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.2697T>C",
"hgvs_p": null,
"transcript": "ENST00000376838.5",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000376838.5"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.459T>C",
"hgvs_p": null,
"transcript": "ENST00000455339.1",
"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": "retained_intron",
"feature": "ENST00000455339.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.292T>C",
"hgvs_p": null,
"transcript": "ENST00000473471.5",
"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": "retained_intron",
"feature": "ENST00000473471.5"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.323T>C",
"hgvs_p": null,
"transcript": "ENST00000490931.1",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000490931.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 52,
"exon_rank_end": null,
"exon_count": 57,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.*2655T>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": 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": "ENST00000703118.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTOR",
"gene_hgnc_id": 3942,
"hgvs_c": "n.3198T>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000703131.1"
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],
"gene_symbol": "MTOR",
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"dbsnp": "rs1085307113",
"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,
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"computational_score_selected": 0.9388739466667175,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.924,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9993,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.911,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
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"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS4_Moderate,PS3,PS2_Moderate,PP2,PM2_Supporting",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
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"PS3",
"PS2_Moderate",
"PP2",
"PM2_Supporting"
],
"verdict": "Pathogenic",
"transcript": "NM_004958.4",
"gene_symbol": "MTOR",
"hgnc_id": 3942,
"effects": [
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],
"inheritance_mode": "AD",
"hgvs_c": "c.7280T>C",
"hgvs_p": "p.Leu2427Pro"
}
],
"clinvar_disease": "CEBALID syndrome,Isolated focal cortical dysplasia type II,Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "reviewed by expert panel",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Isolated focal cortical dysplasia type II|CEBALID syndrome|Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}