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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: 20-34408663-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34408663&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34408663,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000374864.10",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "NM_031483.7",
"protein_id": "NP_113671.3",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 862,
"cds_start": 83,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 6743,
"mane_select": "ENST00000374864.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "ENST00000374864.10",
"protein_id": "ENSP00000363998.4",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 862,
"cds_start": 83,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 6743,
"mane_select": "NM_031483.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "ENST00000262650.11",
"protein_id": "ENSP00000262650.5",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 903,
"cds_start": 83,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 6447,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289720",
"gene_hgnc_id": null,
"hgvs_c": "n.83A>G",
"hgvs_p": null,
"transcript": "ENST00000696979.1",
"protein_id": "ENSP00000513014.1",
"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": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "NM_001257137.3",
"protein_id": "NP_001244066.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 903,
"cds_start": 83,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "NM_001324197.2",
"protein_id": "NP_001311126.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 903,
"cds_start": 83,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 6887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "ENST00000665346.1",
"protein_id": "ENSP00000499786.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 903,
"cds_start": 83,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 236,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.197A>G",
"hgvs_p": "p.Lys66Arg",
"transcript": "ENST00000670516.1",
"protein_id": "ENSP00000499526.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 900,
"cds_start": 197,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "ENST00000696975.1",
"protein_id": "ENSP00000513012.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 866,
"cds_start": 83,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "NM_001324198.2",
"protein_id": "NP_001311127.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 862,
"cds_start": 83,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 279,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "ENST00000665484.2",
"protein_id": "ENSP00000499605.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 830,
"cds_start": 83,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "ENST00000660337.1",
"protein_id": "ENSP00000499685.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 779,
"cds_start": 83,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 241,
"cdna_end": null,
"cdna_length": 4111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "ENST00000654846.1",
"protein_id": "ENSP00000499220.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 90,
"cds_start": 83,
"cds_end": null,
"cds_length": 275,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 590,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "XM_017028089.2",
"protein_id": "XP_016883578.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 903,
"cds_start": 83,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 1088,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "XM_024452005.2",
"protein_id": "XP_024307773.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 903,
"cds_start": 83,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 129,
"cdna_end": null,
"cdna_length": 6737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "XM_047440532.1",
"protein_id": "XP_047296488.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 862,
"cds_start": 83,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1082,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "XM_047440538.1",
"protein_id": "XP_047296494.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 594,
"cds_start": 83,
"cds_end": null,
"cds_length": 1785,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 2095,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.83A>G",
"hgvs_p": "p.Lys28Arg",
"transcript": "XM_047440539.1",
"protein_id": "XP_047296495.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 445,
"cds_start": 83,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 2105,
"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": 4,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "n.83A>G",
"hgvs_p": null,
"transcript": "ENST00000461661.2",
"protein_id": "ENSP00000491176.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 5313,
"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": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "n.238A>G",
"hgvs_p": null,
"transcript": "ENST00000658310.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": 2398,
"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": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "n.219A>G",
"hgvs_p": null,
"transcript": "ENST00000662871.1",
"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": 2572,
"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": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289720",
"gene_hgnc_id": null,
"hgvs_c": "n.83A>G",
"hgvs_p": null,
"transcript": "ENST00000664852.1",
"protein_id": "ENSP00000499754.1",
"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": 3420,
"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": 4,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "n.83A>G",
"hgvs_p": null,
"transcript": "ENST00000696974.1",
"protein_id": "ENSP00000513011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0923,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.909,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "ENST00000374864.10",
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"effects": [
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{
"score": -1,
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"verdict": "Likely_benign",
"transcript": "ENST00000696979.1",
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"effects": [
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],
"clinvar_disease": "Inborn genetic diseases,Syndromic multisystem autoimmune disease due to ITCH deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Syndromic multisystem autoimmune disease due to ITCH deficiency|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}