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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: 7-157181590-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157181590&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 157181590,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_014671.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "NM_014671.3",
"protein_id": "NP_055486.2",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1083,
"cds_start": 689,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": "ENST00000348165.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014671.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000348165.10",
"protein_id": "ENSP00000309198.8",
"transcript_support_level": 1,
"aa_start": 230,
"aa_end": null,
"aa_length": 1083,
"cds_start": 689,
"cds_end": null,
"cds_length": 3252,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 5214,
"mane_select": "NM_014671.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348165.10"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000945962.1",
"protein_id": "ENSP00000616021.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1114,
"cds_start": 689,
"cds_end": null,
"cds_length": 3345,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 5041,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945962.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000945960.1",
"protein_id": "ENSP00000616019.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 1108,
"cds_start": 764,
"cds_end": null,
"cds_length": 3327,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 5037,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945960.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000929830.1",
"protein_id": "ENSP00000599889.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1082,
"cds_start": 689,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 5183,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929830.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000945957.1",
"protein_id": "ENSP00000616016.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1082,
"cds_start": 689,
"cds_end": null,
"cds_length": 3249,
"cdna_start": 1020,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945957.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000945964.1",
"protein_id": "ENSP00000616023.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1080,
"cds_start": 689,
"cds_end": null,
"cds_length": 3243,
"cdna_start": 996,
"cdna_end": null,
"cdna_length": 4910,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945964.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000929832.1",
"protein_id": "ENSP00000599891.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1069,
"cds_start": 689,
"cds_end": null,
"cds_length": 3210,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 4916,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929832.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.638G>C",
"hgvs_p": "p.Arg213Pro",
"transcript": "ENST00000929829.1",
"protein_id": "ENSP00000599888.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1066,
"cds_start": 638,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929829.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.638G>C",
"hgvs_p": "p.Arg213Pro",
"transcript": "ENST00000945958.1",
"protein_id": "ENSP00000616017.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 1066,
"cds_start": 638,
"cds_end": null,
"cds_length": 3201,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 5132,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945958.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.635G>C",
"hgvs_p": "p.Arg212Pro",
"transcript": "ENST00000929828.1",
"protein_id": "ENSP00000599887.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 1065,
"cds_start": 635,
"cds_end": null,
"cds_length": 3198,
"cdna_start": 972,
"cdna_end": null,
"cdna_length": 5150,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929828.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Pro",
"transcript": "ENST00000929826.1",
"protein_id": "ENSP00000599885.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1058,
"cds_start": 614,
"cds_end": null,
"cds_length": 3177,
"cdna_start": 962,
"cdna_end": null,
"cdna_length": 5140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929826.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Pro",
"transcript": "ENST00000945963.1",
"protein_id": "ENSP00000616022.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1056,
"cds_start": 614,
"cds_end": null,
"cds_length": 3171,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 4858,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945963.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000929831.1",
"protein_id": "ENSP00000599890.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1054,
"cds_start": 689,
"cds_end": null,
"cds_length": 3165,
"cdna_start": 977,
"cdna_end": null,
"cdna_length": 5068,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929831.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.542G>C",
"hgvs_p": "p.Arg181Pro",
"transcript": "ENST00000945959.1",
"protein_id": "ENSP00000616018.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 1034,
"cds_start": 542,
"cds_end": null,
"cds_length": 3105,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 4861,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945959.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Pro",
"transcript": "ENST00000945956.1",
"protein_id": "ENSP00000616015.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1023,
"cds_start": 614,
"cds_end": null,
"cds_length": 3072,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 5020,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945956.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000929827.1",
"protein_id": "ENSP00000599886.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1021,
"cds_start": 689,
"cds_end": null,
"cds_length": 3066,
"cdna_start": 1031,
"cdna_end": null,
"cdna_length": 5025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929827.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro",
"transcript": "ENST00000945961.1",
"protein_id": "ENSP00000616020.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 1012,
"cds_start": 689,
"cds_end": null,
"cds_length": 3039,
"cdna_start": 1025,
"cdna_end": null,
"cdna_length": 4735,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945961.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.467G>C",
"hgvs_p": "p.Arg156Pro",
"transcript": "ENST00000929825.1",
"protein_id": "ENSP00000599884.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 1009,
"cds_start": 467,
"cds_end": null,
"cds_length": 3030,
"cdna_start": 818,
"cdna_end": null,
"cdna_length": 4994,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929825.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.560G>C",
"hgvs_p": "p.Arg187Pro",
"transcript": "ENST00000389103.4",
"protein_id": "ENSP00000373755.4",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 404,
"cds_start": 560,
"cds_end": null,
"cds_length": 1215,
"cdna_start": 638,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389103.4"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.626G>C",
"hgvs_p": "p.Arg209Pro",
"transcript": "XM_047421072.1",
"protein_id": "XP_047277028.1",
"transcript_support_level": null,
"aa_start": 209,
"aa_end": null,
"aa_length": 1062,
"cds_start": 626,
"cds_end": null,
"cds_length": 3189,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 5030,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421072.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.614G>C",
"hgvs_p": "p.Arg205Pro",
"transcript": "XM_005249564.5",
"protein_id": "XP_005249621.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 1058,
"cds_start": 614,
"cds_end": null,
"cds_length": 3177,
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"feature": "XM_005249564.5"
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{
"aa_ref": "R",
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"protein_coding": true,
"strand": true,
"consequences": [
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],
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"exon_count": 16,
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"gene_symbol": "UBE3C",
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"protein_id": "XP_047277029.1",
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421073.1"
}
],
"gene_symbol": "UBE3C",
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"dbsnp": "rs1481375170",
"frequency_reference_population": 6.842931e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84293e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.38151565194129944,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.173,
"revel_prediction": "Benign",
"alphamissense_score": 0.4098,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.5,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.07,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014671.3",
"gene_symbol": "UBE3C",
"hgnc_id": 16803,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.689G>C",
"hgvs_p": "p.Arg230Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}