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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: 17-32199495-G-GT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=32199495&ref=G&alt=GT&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 32199495,
"ref": "G",
"alt": "GT",
"effect": "frameshift_variant",
"transcript": "ENST00000545287.7",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "NM_001033566.3",
"protein_id": "NP_001028738.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 659,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "ENST00000545287.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "ENST00000545287.7",
"protein_id": "ENSP00000439737.2",
"transcript_support_level": 5,
"aa_start": 350,
"aa_end": null,
"aa_length": 659,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1980,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3165,
"mane_select": "NM_001033566.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "ENST00000358365.7",
"protein_id": "ENSP00000351132.3",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 691,
"cds_start": 1049,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 3297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "ENST00000333942.10",
"protein_id": "ENSP00000334724.6",
"transcript_support_level": 1,
"aa_start": 350,
"aa_end": null,
"aa_length": 618,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1288,
"cdna_end": null,
"cdna_length": 3133,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.985dupT",
"hgvs_p": "p.Cys329fs",
"transcript": "ENST00000354266.7",
"protein_id": "ENSP00000346215.3",
"transcript_support_level": 1,
"aa_start": 329,
"aa_end": null,
"aa_length": 597,
"cds_start": 986,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 2919,
"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": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.*1016dupT",
"hgvs_p": null,
"transcript": "ENST00000578205.5",
"protein_id": "ENSP00000462612.1",
"transcript_support_level": 1,
"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": 2771,
"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": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.1048dupT",
"hgvs_p": null,
"transcript": "ENST00000581031.5",
"protein_id": "ENSP00000464094.1",
"transcript_support_level": 1,
"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": 3013,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "n.*1016dupT",
"hgvs_p": null,
"transcript": "ENST00000578205.5",
"protein_id": "ENSP00000462612.1",
"transcript_support_level": 1,
"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": 2771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "NM_001033568.3",
"protein_id": "NP_001028740.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 691,
"cds_start": 1049,
"cds_end": null,
"cds_length": 2076,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3261,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "NM_001288754.2",
"protein_id": "NP_001275683.1",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 650,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "ENST00000394692.6",
"protein_id": "ENSP00000378184.2",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 650,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1953,
"cdna_start": 1062,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "ENST00000581148.2",
"protein_id": "ENSP00000467272.2",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 633,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1172,
"cdna_end": null,
"cdna_length": 2417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "NM_018307.5",
"protein_id": "NP_060777.3",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 618,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 3042,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.985dupT",
"hgvs_p": "p.Cys329fs",
"transcript": "NM_001288755.2",
"protein_id": "NP_001275684.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 597,
"cds_start": 986,
"cds_end": null,
"cds_length": 1794,
"cdna_start": 1236,
"cdna_end": null,
"cdna_length": 3038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "ENST00000581094.5",
"protein_id": "ENSP00000462669.1",
"transcript_support_level": 2,
"aa_start": 350,
"aa_end": null,
"aa_length": 580,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1743,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 3231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.667dupT",
"hgvs_p": "p.Cys223fs",
"transcript": "NM_001288758.2",
"protein_id": "NP_001275687.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 523,
"cds_start": 668,
"cds_end": null,
"cds_length": 1572,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 3262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.667dupT",
"hgvs_p": "p.Cys223fs",
"transcript": "NM_001033567.3",
"protein_id": "NP_001028739.2",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 491,
"cds_start": 668,
"cds_end": null,
"cds_length": 1476,
"cdna_start": 1364,
"cdna_end": null,
"cdna_length": 3166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1141dupT",
"hgvs_p": "p.Cys381fs",
"transcript": "XM_047436353.1",
"protein_id": "XP_047292309.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 722,
"cds_start": 1142,
"cds_end": null,
"cds_length": 2169,
"cdna_start": 4202,
"cdna_end": null,
"cdna_length": 6223,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1141dupT",
"hgvs_p": "p.Cys381fs",
"transcript": "XM_047436355.1",
"protein_id": "XP_047292311.1",
"transcript_support_level": null,
"aa_start": 381,
"aa_end": null,
"aa_length": 690,
"cds_start": 1142,
"cds_end": null,
"cds_length": 2073,
"cdna_start": 4187,
"cdna_end": null,
"cdna_length": 6112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.985dupT",
"hgvs_p": "p.Cys329fs",
"transcript": "XM_047436357.1",
"protein_id": "XP_047292313.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 670,
"cds_start": 986,
"cds_end": null,
"cds_length": 2013,
"cdna_start": 1280,
"cdna_end": null,
"cdna_length": 3301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.985dupT",
"hgvs_p": "p.Cys329fs",
"transcript": "XM_011524969.3",
"protein_id": "XP_011523271.1",
"transcript_support_level": null,
"aa_start": 329,
"aa_end": null,
"aa_length": 660,
"cds_start": 986,
"cds_end": null,
"cds_length": 1983,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 2012,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1048dupT",
"hgvs_p": "p.Cys350fs",
"transcript": "XM_011524973.3",
"protein_id": "XP_011523275.2",
"transcript_support_level": null,
"aa_start": 350,
"aa_end": null,
"aa_length": 658,
"cds_start": 1049,
"cds_end": null,
"cds_length": 1977,
"cdna_start": 1240,
"cdna_end": null,
"cdna_length": 6812,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "L?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHOT1",
"gene_hgnc_id": 21168,
"hgvs_c": "c.1045dupT",
"hgvs_p": "p.Cys349fs",
"transcript": "XM_047436358.1",
"protein_id": "XP_047292314.1",
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"custom_annotations": null
}
],
"message": null
}