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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: 3-105702190-C-CGCT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=105702190&ref=C&alt=CGCT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 105702190,
"ref": "C",
"alt": "CGCT",
"effect": "disruptive_inframe_insertion",
"transcript": "ENST00000394030.8",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "NM_170662.5",
"protein_id": "NP_733762.2",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 982,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "ENST00000394030.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "ENST00000394030.8",
"protein_id": "ENSP00000377598.4",
"transcript_support_level": 1,
"aa_start": 621,
"aa_end": null,
"aa_length": 982,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 6749,
"mane_select": "NM_170662.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1944_1946dupAGC",
"hgvs_p": "p.Ala649dup",
"transcript": "NM_001321786.1",
"protein_id": "NP_001308715.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 1010,
"cds_start": 1946,
"cds_end": null,
"cds_length": 3033,
"cdna_start": 2089,
"cdna_end": null,
"cdna_length": 6685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "NM_001321788.2",
"protein_id": "NP_001308717.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 982,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2949,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 6573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1944_1946dupAGC",
"hgvs_p": "p.Ala649dup",
"transcript": "NM_001321789.1",
"protein_id": "NP_001308718.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 961,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2886,
"cdna_start": 2027,
"cdna_end": null,
"cdna_length": 6476,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1926_1928dupAGC",
"hgvs_p": "p.Ala643dup",
"transcript": "NM_001321790.2",
"protein_id": "NP_001308719.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 960,
"cds_start": 1928,
"cds_end": null,
"cds_length": 2883,
"cdna_start": 1941,
"cdna_end": null,
"cdna_length": 6405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "NM_001321791.2",
"protein_id": "NP_001308720.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 938,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "NM_001321793.2",
"protein_id": "NP_001308722.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 938,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2817,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 6617,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "NM_001321794.2",
"protein_id": "NP_001308723.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 933,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "NM_001321795.2",
"protein_id": "NP_001308724.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 933,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 6602,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1713_1715dupAGC",
"hgvs_p": "p.Ala572dup",
"transcript": "NM_001321796.2",
"protein_id": "NP_001308725.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 933,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2802,
"cdna_start": 1830,
"cdna_end": null,
"cdna_length": 6426,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "NM_001321797.2",
"protein_id": "NP_001308726.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 889,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 1977,
"cdna_end": null,
"cdna_length": 6294,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "NM_001321798.2",
"protein_id": "NP_001308727.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 889,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2153,
"cdna_end": null,
"cdna_length": 6470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1713_1715dupAGC",
"hgvs_p": "p.Ala572dup",
"transcript": "NM_001321799.2",
"protein_id": "NP_001308728.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 889,
"cds_start": 1715,
"cds_end": null,
"cds_length": 2670,
"cdna_start": 2006,
"cdna_end": null,
"cdna_length": 6470,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "ENST00000405772.5",
"protein_id": "ENSP00000384938.1",
"transcript_support_level": 2,
"aa_start": 621,
"aa_end": null,
"aa_length": 810,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2433,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 3237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup",
"transcript": "ENST00000403724.5",
"protein_id": "ENSP00000384816.1",
"transcript_support_level": 2,
"aa_start": 621,
"aa_end": null,
"aa_length": 770,
"cds_start": 1862,
"cds_end": null,
"cds_length": 2313,
"cdna_start": 2184,
"cdna_end": null,
"cdna_length": 3350,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1080_1082dupAGC",
"hgvs_p": "p.Ala361dup",
"transcript": "NM_001321806.2",
"protein_id": "NP_001308735.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 722,
"cds_start": 1082,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 6416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1080_1082dupAGC",
"hgvs_p": "p.Ala361dup",
"transcript": "NM_001321807.2",
"protein_id": "NP_001308736.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 722,
"cds_start": 1082,
"cds_end": null,
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"cdna_start": 2297,
"cdna_end": null,
"cdna_length": 6893,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1080_1082dupAGC",
"hgvs_p": "p.Ala361dup",
"transcript": "NM_001321808.2",
"protein_id": "NP_001308737.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 678,
"cds_start": 1082,
"cds_end": null,
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"cdna_start": 2121,
"cdna_end": null,
"cdna_length": 6585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1080_1082dupAGC",
"hgvs_p": "p.Ala361dup",
"transcript": "NM_001321811.2",
"protein_id": "NP_001308740.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 673,
"cds_start": 1082,
"cds_end": null,
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"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 6445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1080_1082dupAGC",
"hgvs_p": "p.Ala361dup",
"transcript": "NM_001321813.1",
"protein_id": "NP_001308742.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 673,
"cds_start": 1082,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 2065,
"cdna_end": null,
"cdna_length": 6514,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "AA",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"disruptive_inframe_insertion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "c.1080_1082dupAGC",
"hgvs_p": "p.Ala361dup",
"transcript": "NM_001321816.2",
"protein_id": "NP_001308745.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 629,
"cds_start": 1082,
"cds_end": null,
"cds_length": 1890,
"cdna_start": 1996,
"cdna_end": null,
"cdna_length": 6313,
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},
{
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"consequences": [
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{
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},
{
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},
{
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},
{
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],
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"gene_symbol": "CBLB",
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},
{
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],
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"feature": null
},
{
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"canonical": false,
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"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "CBLB",
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"transcript": "ENST00000645759.1",
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},
{
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"consequences": [
"3_prime_UTR_variant"
],
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"gene_symbol": "CBLB",
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 9,
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"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"hgvs_c": "n.-19_-17dupAGC",
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"transcript": "ENST00000642241.1",
"protein_id": "ENSP00000494262.1",
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"mane_select": null,
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}
],
"gene_symbol": "CBLB",
"gene_hgnc_id": 1542,
"dbsnp": "rs587778163",
"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,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.402,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PM4_Supporting",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000394030.8",
"gene_symbol": "CBLB",
"hgnc_id": 1542,
"effects": [
"disruptive_inframe_insertion"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1860_1862dupAGC",
"hgvs_p": "p.Ala621dup"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}