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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: 7-157178758-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157178758&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 157178758,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_014671.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "NM_014671.3",
"protein_id": "NP_055486.2",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1083,
"cds_start": 527,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000348165.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014671.3"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000348165.10",
"protein_id": "ENSP00000309198.8",
"transcript_support_level": 1,
"aa_start": 176,
"aa_end": null,
"aa_length": 1083,
"cds_start": 527,
"cds_end": null,
"cds_length": 3252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014671.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000348165.10"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000945962.1",
"protein_id": "ENSP00000616021.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1114,
"cds_start": 527,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945962.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.602C>G",
"hgvs_p": "p.Ser201Trp",
"transcript": "ENST00000945960.1",
"protein_id": "ENSP00000616019.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 1108,
"cds_start": 602,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945960.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000929830.1",
"protein_id": "ENSP00000599889.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1082,
"cds_start": 527,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929830.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000945957.1",
"protein_id": "ENSP00000616016.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1082,
"cds_start": 527,
"cds_end": null,
"cds_length": 3249,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945957.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000945964.1",
"protein_id": "ENSP00000616023.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1080,
"cds_start": 527,
"cds_end": null,
"cds_length": 3243,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945964.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000929832.1",
"protein_id": "ENSP00000599891.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1069,
"cds_start": 527,
"cds_end": null,
"cds_length": 3210,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929832.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Ser159Trp",
"transcript": "ENST00000929829.1",
"protein_id": "ENSP00000599888.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1066,
"cds_start": 476,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929829.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.476C>G",
"hgvs_p": "p.Ser159Trp",
"transcript": "ENST00000945958.1",
"protein_id": "ENSP00000616017.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 1066,
"cds_start": 476,
"cds_end": null,
"cds_length": 3201,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945958.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.473C>G",
"hgvs_p": "p.Ser158Trp",
"transcript": "ENST00000929828.1",
"protein_id": "ENSP00000599887.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 1065,
"cds_start": 473,
"cds_end": null,
"cds_length": 3198,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929828.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Ser151Trp",
"transcript": "ENST00000929826.1",
"protein_id": "ENSP00000599885.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1058,
"cds_start": 452,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929826.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Ser151Trp",
"transcript": "ENST00000945963.1",
"protein_id": "ENSP00000616022.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1056,
"cds_start": 452,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945963.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000929831.1",
"protein_id": "ENSP00000599890.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1054,
"cds_start": 527,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929831.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.380C>G",
"hgvs_p": "p.Ser127Trp",
"transcript": "ENST00000945959.1",
"protein_id": "ENSP00000616018.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 1034,
"cds_start": 380,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945959.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.452C>G",
"hgvs_p": "p.Ser151Trp",
"transcript": "ENST00000945956.1",
"protein_id": "ENSP00000616015.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1023,
"cds_start": 452,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945956.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000929827.1",
"protein_id": "ENSP00000599886.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1021,
"cds_start": 527,
"cds_end": null,
"cds_length": 3066,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929827.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"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.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "ENST00000945961.1",
"protein_id": "ENSP00000616020.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 1012,
"cds_start": 527,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945961.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.305C>G",
"hgvs_p": "p.Ser102Trp",
"transcript": "ENST00000929825.1",
"protein_id": "ENSP00000599884.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 1009,
"cds_start": 305,
"cds_end": null,
"cds_length": 3030,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929825.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.398C>G",
"hgvs_p": "p.Ser133Trp",
"transcript": "ENST00000389103.4",
"protein_id": "ENSP00000373755.4",
"transcript_support_level": 5,
"aa_start": 133,
"aa_end": null,
"aa_length": 404,
"cds_start": 398,
"cds_end": null,
"cds_length": 1215,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389103.4"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.464C>G",
"hgvs_p": "p.Ser155Trp",
"transcript": "XM_047421072.1",
"protein_id": "XP_047277028.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 1062,
"cds_start": 464,
"cds_end": null,
"cds_length": 3189,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421072.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.452C>G",
"hgvs_p": "p.Ser151Trp",
"transcript": "XM_005249564.5",
"protein_id": "XP_005249621.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 1058,
"cds_start": 452,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249564.5"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp",
"transcript": "XM_047421073.1",
"protein_id": "XP_047277029.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 656,
"cds_start": 527,
"cds_end": null,
"cds_length": 1971,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421073.1"
}
],
"gene_symbol": "UBE3C",
"gene_hgnc_id": 16803,
"dbsnp": "rs1294727193",
"frequency_reference_population": 6.8405535e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84055e-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": 0.8414615392684937,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.413,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7847,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.094,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014671.3",
"gene_symbol": "UBE3C",
"hgnc_id": 16803,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.527C>G",
"hgvs_p": "p.Ser176Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}