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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: 20-34480695-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=34480695&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 34480695,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000374864.10",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1915A>G",
"hgvs_p": "p.Ile639Val",
"transcript": "NM_031483.7",
"protein_id": "NP_113671.3",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 862,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 6743,
"mane_select": "ENST00000374864.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1915A>G",
"hgvs_p": "p.Ile639Val",
"transcript": "ENST00000374864.10",
"protein_id": "ENSP00000363998.4",
"transcript_support_level": 1,
"aa_start": 639,
"aa_end": null,
"aa_length": 862,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2090,
"cdna_end": null,
"cdna_length": 6743,
"mane_select": "NM_031483.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Ile680Val",
"transcript": "ENST00000262650.11",
"protein_id": "ENSP00000262650.5",
"transcript_support_level": 1,
"aa_start": 680,
"aa_end": null,
"aa_length": 903,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2174,
"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": 19,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289720",
"gene_hgnc_id": null,
"hgvs_c": "n.1915A>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": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Ile680Val",
"transcript": "NM_001257137.3",
"protein_id": "NP_001244066.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 903,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2213,
"cdna_end": null,
"cdna_length": 6866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Ile680Val",
"transcript": "NM_001324197.2",
"protein_id": "NP_001311126.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 903,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2234,
"cdna_end": null,
"cdna_length": 6887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Ile680Val",
"transcript": "ENST00000665346.1",
"protein_id": "ENSP00000499786.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 903,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2191,
"cdna_end": null,
"cdna_length": 3159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.2029A>G",
"hgvs_p": "p.Ile677Val",
"transcript": "ENST00000670516.1",
"protein_id": "ENSP00000499526.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 900,
"cds_start": 2029,
"cds_end": null,
"cds_length": 2703,
"cdna_start": 2197,
"cdna_end": null,
"cdna_length": 4484,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1915A>G",
"hgvs_p": "p.Ile639Val",
"transcript": "ENST00000696975.1",
"protein_id": "ENSP00000513012.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 866,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2601,
"cdna_start": 2064,
"cdna_end": null,
"cdna_length": 3254,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1915A>G",
"hgvs_p": "p.Ile639Val",
"transcript": "NM_001324198.2",
"protein_id": "NP_001311127.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 862,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2111,
"cdna_end": null,
"cdna_length": 6764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1819A>G",
"hgvs_p": "p.Ile607Val",
"transcript": "ENST00000665484.2",
"protein_id": "ENSP00000499605.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 830,
"cds_start": 1819,
"cds_end": null,
"cds_length": 2493,
"cdna_start": 2032,
"cdna_end": null,
"cdna_length": 5266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1666A>G",
"hgvs_p": "p.Ile556Val",
"transcript": "ENST00000660337.1",
"protein_id": "ENSP00000499685.1",
"transcript_support_level": null,
"aa_start": 556,
"aa_end": null,
"aa_length": 779,
"cds_start": 1666,
"cds_end": null,
"cds_length": 2340,
"cdna_start": 1824,
"cdna_end": null,
"cdna_length": 4111,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Ile529Val",
"transcript": "NM_001257138.3",
"protein_id": "NP_001244067.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 752,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 6601,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Ile529Val",
"transcript": "ENST00000535650.8",
"protein_id": "ENSP00000445608.1",
"transcript_support_level": 2,
"aa_start": 529,
"aa_end": null,
"aa_length": 752,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 1945,
"cdna_end": null,
"cdna_length": 6218,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Ile680Val",
"transcript": "XM_017028089.2",
"protein_id": "XP_016883578.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 903,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 3043,
"cdna_end": null,
"cdna_length": 7696,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.2038A>G",
"hgvs_p": "p.Ile680Val",
"transcript": "XM_024452005.2",
"protein_id": "XP_024307773.1",
"transcript_support_level": null,
"aa_start": 680,
"aa_end": null,
"aa_length": 903,
"cds_start": 2038,
"cds_end": null,
"cds_length": 2712,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 6737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1915A>G",
"hgvs_p": "p.Ile639Val",
"transcript": "XM_047440532.1",
"protein_id": "XP_047296488.1",
"transcript_support_level": null,
"aa_start": 639,
"aa_end": null,
"aa_length": 862,
"cds_start": 1915,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 2914,
"cdna_end": null,
"cdna_length": 7567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Ile570Val",
"transcript": "XM_047440533.1",
"protein_id": "XP_047296489.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 793,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2122,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1708A>G",
"hgvs_p": "p.Ile570Val",
"transcript": "XM_047440534.1",
"protein_id": "XP_047296490.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 793,
"cds_start": 1708,
"cds_end": null,
"cds_length": 2382,
"cdna_start": 2541,
"cdna_end": null,
"cdna_length": 7194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1585A>G",
"hgvs_p": "p.Ile529Val",
"transcript": "XM_047440535.1",
"protein_id": "XP_047296491.1",
"transcript_support_level": null,
"aa_start": 529,
"aa_end": null,
"aa_length": 752,
"cds_start": 1585,
"cds_end": null,
"cds_length": 2259,
"cdna_start": 2418,
"cdna_end": null,
"cdna_length": 7071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1405A>G",
"hgvs_p": "p.Ile469Val",
"transcript": "XM_047440536.1",
"protein_id": "XP_047296492.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 692,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1544,
"cdna_end": null,
"cdna_length": 6197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "c.1405A>G",
"hgvs_p": "p.Ile469Val",
"transcript": "XM_047440537.1",
"protein_id": "XP_047296493.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 692,
"cds_start": 1405,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1508,
"cdna_end": null,
"cdna_length": 6161,
"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": 19,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ITCH",
"gene_hgnc_id": 13890,
"hgvs_c": "n.*182A>G",
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"transcript": "ENST00000461661.2",
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -2,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
"score": -2,
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"criteria": [
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"verdict": "Likely_benign",
"transcript": "ENST00000374864.10",
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"effects": [
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],
"inheritance_mode": "AR",
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{
"score": -2,
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"verdict": "Likely_benign",
"transcript": "ENST00000696979.1",
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"effects": [
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"inheritance_mode": "",
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}
],
"clinvar_disease": "Syndromic multisystem autoimmune disease due to ITCH deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Syndromic multisystem autoimmune disease due to ITCH deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}