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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: 3-69055893-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=69055893&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 69055893,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_003968.4",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Ile421Val",
"transcript": "NM_003968.4",
"protein_id": "NP_003959.3",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 463,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "ENST00000361055.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003968.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Ile421Val",
"transcript": "ENST00000361055.9",
"protein_id": "ENSP00000354340.4",
"transcript_support_level": 1,
"aa_start": 421,
"aa_end": null,
"aa_length": 463,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1392,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 2111,
"mane_select": "NM_003968.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361055.9"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1261A>G",
"hgvs_p": "p.Ile421Val",
"transcript": "ENST00000854662.1",
"protein_id": "ENSP00000524721.1",
"transcript_support_level": null,
"aa_start": 421,
"aa_end": null,
"aa_length": 468,
"cds_start": 1261,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 1283,
"cdna_end": null,
"cdna_length": 2135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854662.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1258A>G",
"hgvs_p": "p.Ile420Val",
"transcript": "ENST00000854663.1",
"protein_id": "ENSP00000524722.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 462,
"cds_start": 1258,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1279,
"cdna_end": null,
"cdna_length": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854663.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1228A>G",
"hgvs_p": "p.Ile410Val",
"transcript": "ENST00000854668.1",
"protein_id": "ENSP00000524727.1",
"transcript_support_level": null,
"aa_start": 410,
"aa_end": null,
"aa_length": 452,
"cds_start": 1228,
"cds_end": null,
"cds_length": 1359,
"cdna_start": 1235,
"cdna_end": null,
"cdna_length": 2071,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854668.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "NM_198195.2",
"protein_id": "NP_937838.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 449,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1231,
"cdna_end": null,
"cdna_length": 2069,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198195.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "ENST00000349511.8",
"protein_id": "ENSP00000340041.4",
"transcript_support_level": 2,
"aa_start": 407,
"aa_end": null,
"aa_length": 449,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1274,
"cdna_end": null,
"cdna_length": 2112,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349511.8"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1219A>G",
"hgvs_p": "p.Ile407Val",
"transcript": "ENST00000854661.1",
"protein_id": "ENSP00000524720.1",
"transcript_support_level": null,
"aa_start": 407,
"aa_end": null,
"aa_length": 449,
"cds_start": 1219,
"cds_end": null,
"cds_length": 1350,
"cdna_start": 1248,
"cdna_end": null,
"cdna_length": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854661.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1216A>G",
"hgvs_p": "p.Ile406Val",
"transcript": "ENST00000854660.1",
"protein_id": "ENSP00000524719.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 448,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 1245,
"cdna_end": null,
"cdna_length": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854660.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1207A>G",
"hgvs_p": "p.Ile403Val",
"transcript": "ENST00000968751.1",
"protein_id": "ENSP00000638810.1",
"transcript_support_level": null,
"aa_start": 403,
"aa_end": null,
"aa_length": 445,
"cds_start": 1207,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 1221,
"cdna_end": null,
"cdna_length": 2056,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968751.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1180A>G",
"hgvs_p": "p.Ile394Val",
"transcript": "ENST00000854659.1",
"protein_id": "ENSP00000524718.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 436,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1214,
"cdna_end": null,
"cdna_length": 2066,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854659.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1180A>G",
"hgvs_p": "p.Ile394Val",
"transcript": "ENST00000931269.1",
"protein_id": "ENSP00000601328.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 436,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2042,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931269.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1180A>G",
"hgvs_p": "p.Ile394Val",
"transcript": "ENST00000968749.1",
"protein_id": "ENSP00000638808.1",
"transcript_support_level": null,
"aa_start": 394,
"aa_end": null,
"aa_length": 436,
"cds_start": 1180,
"cds_end": null,
"cds_length": 1311,
"cdna_start": 1208,
"cdna_end": null,
"cdna_length": 2045,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968749.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1177A>G",
"hgvs_p": "p.Ile393Val",
"transcript": "ENST00000854666.1",
"protein_id": "ENSP00000524725.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 435,
"cds_start": 1177,
"cds_end": null,
"cds_length": 1308,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 2025,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854666.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1165A>G",
"hgvs_p": "p.Ile389Val",
"transcript": "ENST00000968753.1",
"protein_id": "ENSP00000638812.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 431,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1296,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2006,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968753.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1138A>G",
"hgvs_p": "p.Ile380Val",
"transcript": "NM_001363861.1",
"protein_id": "NP_001350790.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 422,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1158,
"cdna_end": null,
"cdna_length": 1996,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363861.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1138A>G",
"hgvs_p": "p.Ile380Val",
"transcript": "ENST00000415609.6",
"protein_id": "ENSP00000400294.2",
"transcript_support_level": 5,
"aa_start": 380,
"aa_end": null,
"aa_length": 422,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1166,
"cdna_end": null,
"cdna_length": 2004,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415609.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1138A>G",
"hgvs_p": "p.Ile380Val",
"transcript": "ENST00000968747.1",
"protein_id": "ENSP00000638806.1",
"transcript_support_level": null,
"aa_start": 380,
"aa_end": null,
"aa_length": 422,
"cds_start": 1138,
"cds_end": null,
"cds_length": 1269,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 2008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968747.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1135A>G",
"hgvs_p": "p.Ile379Val",
"transcript": "ENST00000968752.1",
"protein_id": "ENSP00000638811.1",
"transcript_support_level": null,
"aa_start": 379,
"aa_end": null,
"aa_length": 421,
"cds_start": 1135,
"cds_end": null,
"cds_length": 1266,
"cdna_start": 1145,
"cdna_end": null,
"cdna_length": 1982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968752.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1105A>G",
"hgvs_p": "p.Ile369Val",
"transcript": "ENST00000854667.1",
"protein_id": "ENSP00000524726.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 411,
"cds_start": 1105,
"cds_end": null,
"cds_length": 1236,
"cdna_start": 1112,
"cdna_end": null,
"cdna_length": 1948,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854667.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1099A>G",
"hgvs_p": "p.Ile367Val",
"transcript": "ENST00000968750.1",
"protein_id": "ENSP00000638809.1",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 409,
"cds_start": 1099,
"cds_end": null,
"cds_length": 1230,
"cdna_start": 1118,
"cdna_end": null,
"cdna_length": 1952,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968750.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBA3",
"gene_hgnc_id": 12470,
"hgvs_c": "c.1096A>G",
"hgvs_p": "p.Ile366Val",
"transcript": "ENST00000968748.1",
"protein_id": "ENSP00000638807.1",
"transcript_support_level": null,
"aa_start": 366,
"aa_end": null,
"aa_length": 408,
"cds_start": 1096,
"cds_end": null,
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"cdna_start": 1126,
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{
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],
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"dbsnp": "rs1394223577",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.181,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"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_003968.4",
"gene_symbol": "UBA3",
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"effects": [
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],
"inheritance_mode": "AD",
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{
"score": 1,
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"criteria": [
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"BP4"
],
"verdict": "Uncertain_significance",
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"effects": [
"intron_variant"
],
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}