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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: 11-118519788-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118519788&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118519788,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000534358.8",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11317C>T",
"hgvs_p": "p.Leu3773Phe",
"transcript": "NM_001197104.2",
"protein_id": "NP_001184033.1",
"transcript_support_level": null,
"aa_start": 3773,
"aa_end": null,
"aa_length": 3972,
"cds_start": 11317,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 11338,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "ENST00000534358.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11317C>T",
"hgvs_p": "p.Leu3773Phe",
"transcript": "ENST00000534358.8",
"protein_id": "ENSP00000436786.2",
"transcript_support_level": 1,
"aa_start": 3773,
"aa_end": null,
"aa_length": 3972,
"cds_start": 11317,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 11338,
"cdna_end": null,
"cdna_length": 16600,
"mane_select": "NM_001197104.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11308C>T",
"hgvs_p": "p.Leu3770Phe",
"transcript": "ENST00000389506.10",
"protein_id": "ENSP00000374157.5",
"transcript_support_level": 1,
"aa_start": 3770,
"aa_end": null,
"aa_length": 3969,
"cds_start": 11308,
"cds_end": null,
"cds_length": 11910,
"cdna_start": 11331,
"cdna_end": null,
"cdna_length": 13678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11416C>T",
"hgvs_p": "p.Leu3806Phe",
"transcript": "ENST00000531904.7",
"protein_id": "ENSP00000432391.3",
"transcript_support_level": 2,
"aa_start": 3806,
"aa_end": null,
"aa_length": 4005,
"cds_start": 11416,
"cds_end": null,
"cds_length": 12018,
"cdna_start": 11437,
"cdna_end": null,
"cdna_length": 16699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11407C>T",
"hgvs_p": "p.Leu3803Phe",
"transcript": "NM_001412597.1",
"protein_id": "NP_001399526.1",
"transcript_support_level": null,
"aa_start": 3803,
"aa_end": null,
"aa_length": 4002,
"cds_start": 11407,
"cds_end": null,
"cds_length": 12009,
"cdna_start": 11428,
"cdna_end": null,
"cdna_length": 16690,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11407C>T",
"hgvs_p": "p.Leu3803Phe",
"transcript": "ENST00000710560.1",
"protein_id": "ENSP00000518343.1",
"transcript_support_level": null,
"aa_start": 3803,
"aa_end": null,
"aa_length": 4002,
"cds_start": 11407,
"cds_end": null,
"cds_length": 12009,
"cdna_start": 11463,
"cdna_end": null,
"cdna_length": 16725,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11389C>T",
"hgvs_p": "p.Leu3797Phe",
"transcript": "ENST00000691053.1",
"protein_id": "ENSP00000509168.1",
"transcript_support_level": null,
"aa_start": 3797,
"aa_end": null,
"aa_length": 3996,
"cds_start": 11389,
"cds_end": null,
"cds_length": 11991,
"cdna_start": 11397,
"cdna_end": null,
"cdna_length": 13708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11308C>T",
"hgvs_p": "p.Leu3770Phe",
"transcript": "NM_005933.4",
"protein_id": "NP_005924.2",
"transcript_support_level": null,
"aa_start": 3770,
"aa_end": null,
"aa_length": 3969,
"cds_start": 11308,
"cds_end": null,
"cds_length": 11910,
"cdna_start": 11329,
"cdna_end": null,
"cdna_length": 16591,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11194C>T",
"hgvs_p": "p.Leu3732Phe",
"transcript": "ENST00000649699.1",
"protein_id": "ENSP00000496927.1",
"transcript_support_level": null,
"aa_start": 3732,
"aa_end": null,
"aa_length": 3931,
"cds_start": 11194,
"cds_end": null,
"cds_length": 11796,
"cdna_start": 11194,
"cdna_end": null,
"cdna_length": 11796,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5377C>T",
"hgvs_p": "p.Leu1793Phe",
"transcript": "ENST00000686370.1",
"protein_id": "ENSP00000509179.1",
"transcript_support_level": null,
"aa_start": 1793,
"aa_end": null,
"aa_length": 1792,
"cds_start": 5377,
"cds_end": null,
"cds_length": 5381,
"cdna_start": 5377,
"cdna_end": null,
"cdna_length": 5381,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.5275C>T",
"hgvs_p": "p.Leu1759Phe",
"transcript": "ENST00000685397.1",
"protein_id": "ENSP00000509586.1",
"transcript_support_level": null,
"aa_start": 1759,
"aa_end": null,
"aa_length": 1758,
"cds_start": 5275,
"cds_end": null,
"cds_length": 5279,
"cdna_start": 5275,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11416C>T",
"hgvs_p": "p.Leu3806Phe",
"transcript": "XM_011542829.3",
"protein_id": "XP_011541131.1",
"transcript_support_level": null,
"aa_start": 3806,
"aa_end": null,
"aa_length": 4005,
"cds_start": 11416,
"cds_end": null,
"cds_length": 12018,
"cdna_start": 11437,
"cdna_end": null,
"cdna_length": 16699,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11413C>T",
"hgvs_p": "p.Leu3805Phe",
"transcript": "XM_011542830.3",
"protein_id": "XP_011541132.1",
"transcript_support_level": null,
"aa_start": 3805,
"aa_end": null,
"aa_length": 4004,
"cds_start": 11413,
"cds_end": null,
"cds_length": 12015,
"cdna_start": 11434,
"cdna_end": null,
"cdna_length": 16696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.11404C>T",
"hgvs_p": "p.Leu3802Phe",
"transcript": "XM_047426963.1",
"protein_id": "XP_047282919.1",
"transcript_support_level": null,
"aa_start": 3802,
"aa_end": null,
"aa_length": 4001,
"cds_start": 11404,
"cds_end": null,
"cds_length": 12006,
"cdna_start": 11425,
"cdna_end": null,
"cdna_length": 16687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.8899C>T",
"hgvs_p": "p.Leu2967Phe",
"transcript": "XM_011542833.3",
"protein_id": "XP_011541135.1",
"transcript_support_level": null,
"aa_start": 2967,
"aa_end": null,
"aa_length": 3166,
"cds_start": 8899,
"cds_end": null,
"cds_length": 9501,
"cdna_start": 8920,
"cdna_end": null,
"cdna_length": 14182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.8800C>T",
"hgvs_p": "p.Leu2934Phe",
"transcript": "XM_006718839.4",
"protein_id": "XP_006718902.2",
"transcript_support_level": null,
"aa_start": 2934,
"aa_end": null,
"aa_length": 3133,
"cds_start": 8800,
"cds_end": null,
"cds_length": 9402,
"cdna_start": 8821,
"cdna_end": null,
"cdna_length": 14083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "c.8791C>T",
"hgvs_p": "p.Leu2931Phe",
"transcript": "XM_047426964.1",
"protein_id": "XP_047282920.1",
"transcript_support_level": null,
"aa_start": 2931,
"aa_end": null,
"aa_length": 3130,
"cds_start": 8791,
"cds_end": null,
"cds_length": 9393,
"cdna_start": 8812,
"cdna_end": null,
"cdna_length": 14074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"transcript": "ENST00000525408.2",
"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": 857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.817C>T",
"hgvs_p": null,
"transcript": "ENST00000527839.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 4823,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.553C>T",
"hgvs_p": null,
"transcript": "ENST00000648565.1",
"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": 1851,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT2A",
"gene_hgnc_id": 7132,
"hgvs_c": "n.415C>T",
"hgvs_p": null,
"transcript": "ENST00000686588.1",
"protein_id": "ENSP00000510552.1",
"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": 5675,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TTC36-AS1",
"gene_hgnc_id": 55495,
"hgvs_c": "n.137-92G>A",
"hgvs_p": null,
"transcript": "ENST00000525992.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 448,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TTC36-AS1",
"gene_hgnc_id": 55495,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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{
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"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000534358.8",
"gene_symbol": "KMT2A",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000532597.6",
"gene_symbol": "TTC36-AS1",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}