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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: 2-63885572-CTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=63885572&ref=CTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 63885572,
"ref": "CTTT",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_006759.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.576-7_576-5delTTT",
"hgvs_p": null,
"transcript": "NM_006759.4",
"protein_id": "NP_006750.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "ENST00000337130.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006759.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.576-16_576-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000337130.10",
"protein_id": "ENSP00000338703.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2150,
"mane_select": "NM_006759.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337130.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.543-16_543-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000394417.7",
"protein_id": "ENSP00000377939.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394417.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.543-16_543-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000467648.6",
"protein_id": "ENSP00000420793.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2057,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000467648.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "n.675-16_675-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000475550.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4397,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000475550.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.669-16_669-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000866557.1",
"protein_id": "ENSP00000536616.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 539,
"cds_start": null,
"cds_end": null,
"cds_length": 1620,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866557.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.603-16_603-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000445915.6",
"protein_id": "ENSP00000411803.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 517,
"cds_start": null,
"cds_end": null,
"cds_length": 1554,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1955,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445915.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.576-16_576-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000866555.1",
"protein_id": "ENSP00000536614.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 508,
"cds_start": null,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866555.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.543-7_543-5delTTT",
"hgvs_p": null,
"transcript": "NM_001001521.2",
"protein_id": "NP_001001521.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001521.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.543-7_543-5delTTT",
"hgvs_p": null,
"transcript": "NM_001377524.1",
"protein_id": "NP_001364453.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2211,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377524.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.543-7_543-5delTTT",
"hgvs_p": null,
"transcript": "NM_001377525.1",
"protein_id": "NP_001364454.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 497,
"cds_start": null,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
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"cdna_length": 2166,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377525.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.468-16_468-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000866559.1",
"protein_id": "ENSP00000536618.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 472,
"cds_start": null,
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"cds_length": 1419,
"cdna_start": null,
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"cdna_length": 2039,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866559.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.543-16_543-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000613823.2",
"protein_id": "ENSP00000482043.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 463,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000613823.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 5,
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"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.543-16_543-14delTTT",
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"transcript": "ENST00000677841.1",
"protein_id": "ENSP00000502898.1",
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677841.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.576-16_576-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000866558.1",
"protein_id": "ENSP00000536617.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000866558.1"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 9,
"intron_rank": 5,
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"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.576-16_576-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000866556.1",
"protein_id": "ENSP00000536615.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866556.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.216-7_216-5delTTT",
"hgvs_p": null,
"transcript": "NM_001377526.1",
"protein_id": "NP_001364455.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
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"cds_length": 1167,
"cdna_start": null,
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"cdna_length": 2274,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377526.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.216-7_216-5delTTT",
"hgvs_p": null,
"transcript": "NM_001377527.1",
"protein_id": "NP_001364456.1",
"transcript_support_level": null,
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"biotype": "protein_coding",
"feature": "NM_001377527.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
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"exon_count": 11,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.216-7_216-5delTTT",
"hgvs_p": null,
"transcript": "NM_001377528.1",
"protein_id": "NP_001364457.1",
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"aa_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377528.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.216-7_216-5delTTT",
"hgvs_p": null,
"transcript": "NM_001377529.1",
"protein_id": "NP_001364458.1",
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377529.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.256-1829_256-1827delTTT",
"hgvs_p": null,
"transcript": "ENST00000934101.1",
"protein_id": "ENSP00000604160.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 236,
"cds_start": null,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1366,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934101.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "UGP2",
"gene_hgnc_id": 12527,
"hgvs_c": "c.543-16_543-14delTTT",
"hgvs_p": null,
"transcript": "ENST00000491621.5",
"protein_id": "ENSP00000420342.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 211,
"cds_start": null,
"cds_end": null,
"cds_length": 638,
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}
],
"message": null
}