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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: 12-109521251-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=109521251&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 109521251,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000342494.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "NM_130466.4",
"protein_id": "NP_569733.2",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": "ENST00000342494.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "ENST00000342494.8",
"protein_id": "ENSP00000340596.3",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 5730,
"mane_select": "NM_130466.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "ENST00000434735.6",
"protein_id": "ENSP00000391529.2",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2670,
"cdna_end": null,
"cdna_length": 5620,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "ENST00000539599.5",
"protein_id": "ENSP00000443131.1",
"transcript_support_level": 1,
"aa_start": 727,
"aa_end": null,
"aa_length": 870,
"cds_start": 2180,
"cds_end": null,
"cds_length": 2615,
"cdna_start": 2328,
"cdna_end": null,
"cdna_length": 2763,
"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": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.*150A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.*150A>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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "NM_183415.3",
"protein_id": "NP_904324.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 5385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_005253987.3",
"protein_id": "XP_005254044.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 5397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_011538959.3",
"protein_id": "XP_011537261.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1068,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3207,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 5279,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429844.1",
"protein_id": "XP_047285800.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 6664,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429845.1",
"protein_id": "XP_047285801.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1064,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3195,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 6319,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_006719681.4",
"protein_id": "XP_006719744.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2783,
"cdna_end": null,
"cdna_length": 6376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429846.1",
"protein_id": "XP_047285802.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 6031,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429847.1",
"protein_id": "XP_047285803.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2180,
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"cdna_start": 2450,
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"cdna_length": 6043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429848.1",
"protein_id": "XP_047285804.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1044,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3135,
"cdna_start": 2332,
"cdna_end": null,
"cdna_length": 5925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_006719682.3",
"protein_id": "XP_006719745.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
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"cds_start": 2180,
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"cdna_start": 2783,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429849.1",
"protein_id": "XP_047285805.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3132,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 6028,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429850.1",
"protein_id": "XP_047285806.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1043,
"cds_start": 2180,
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"cds_length": 3132,
"cdna_start": 2332,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_011538961.2",
"protein_id": "XP_011537263.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429851.1",
"protein_id": "XP_047285807.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
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"cds_start": 2180,
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"cdna_start": 2438,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429852.1",
"protein_id": "XP_047285808.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1032,
"cds_start": 2180,
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"cds_length": 3099,
"cdna_start": 2450,
"cdna_end": null,
"cdna_length": 7585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro",
"transcript": "XM_047429853.1",
"protein_id": "XP_047285809.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 1008,
"cds_start": 2180,
"cds_end": null,
"cds_length": 3027,
"cdna_start": 2438,
"cdna_end": null,
"cdna_length": 3300,
"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": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.1696A>C",
"hgvs_p": null,
"transcript": "ENST00000538070.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 3655,
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"hgvs_c": "n.1704A>C",
"hgvs_p": null,
"transcript": "ENST00000539584.5",
"protein_id": null,
"transcript_support_level": 5,
"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": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "UBE3B",
"gene_hgnc_id": 13478,
"dbsnp": "rs398123023",
"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": 0.731981635093689,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.513,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9937,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.793,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"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,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000342494.8",
"gene_symbol": "UBE3B",
"hgnc_id": 13478,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2180A>C",
"hgvs_p": "p.Gln727Pro"
}
],
"clinvar_disease": " Kaufman type,Oculocerebrofacial syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Oculocerebrofacial syndrome, Kaufman type",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}