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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: 12-109483853-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109483853&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109483853,
"ref": "T",
"alt": "C",
"effect": "splice_region_variant,intron_variant",
"transcript": "NM_130466.4",
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "NM_130466.4",
"protein_id": "NP_569733.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000342494.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_130466.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000342494.8",
"protein_id": "ENSP00000340596.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_130466.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000342494.8"
},
{
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000434735.6",
"protein_id": "ENSP00000391529.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000434735.6"
},
{
"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": 23,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000539599.5",
"protein_id": "ENSP00000443131.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 870,
"cds_start": null,
"cds_end": null,
"cds_length": 2615,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539599.5"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000340074.9",
"protein_id": "ENSP00000342614.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340074.9"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000536398.5",
"protein_id": "ENSP00000440585.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536398.5"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000540230.5",
"protein_id": "ENSP00000443565.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540230.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000449510.6",
"protein_id": "ENSP00000395802.2",
"transcript_support_level": 5,
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000449510.6"
},
{
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "NM_183415.3",
"protein_id": "NP_904324.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183415.3"
},
{
"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": 29,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000861742.1",
"protein_id": "ENSP00000531801.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861742.1"
},
{
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000861743.1",
"protein_id": "ENSP00000531802.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861743.1"
},
{
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000861744.1",
"protein_id": "ENSP00000531803.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861744.1"
},
{
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-11T>C",
"hgvs_p": null,
"transcript": "ENST00000962216.1",
"protein_id": "ENSP00000632275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1067,
"cds_start": null,
"cds_end": null,
"cds_length": 3204,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962216.1"
},
{
"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": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000861745.1",
"protein_id": "ENSP00000531804.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": null,
"cds_end": null,
"cds_length": 3069,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861745.1"
},
{
"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": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000962217.1",
"protein_id": "ENSP00000632276.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1022,
"cds_start": null,
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"cds_length": 3069,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962217.1"
},
{
"aa_ref": null,
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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": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "ENST00000537063.1",
"protein_id": "ENSP00000437694.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537063.1"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "NM_001270449.2",
"protein_id": "NP_001257378.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270449.2"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "NM_001270450.2",
"protein_id": "NP_001257379.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270450.2"
},
{
"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": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "NM_001270451.2",
"protein_id": "NP_001257380.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 244,
"cds_start": null,
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"cds_length": 735,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270451.2"
},
{
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "XM_005253987.3",
"protein_id": "XP_005254044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005253987.3"
},
{
"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": 27,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "XM_011538959.3",
"protein_id": "XP_011537261.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1068,
"cds_start": null,
"cds_end": null,
"cds_length": 3207,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538959.3"
},
{
"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": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.162-8T>C",
"hgvs_p": null,
"transcript": "XM_047429844.1",
"protein_id": "XP_047285800.1",
"transcript_support_level": null,
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"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
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}
],
"message": null
}