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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: 1-1256050-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=1256050&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 1256050,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_194315.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "NM_058167.3",
"protein_id": "NP_477515.2",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000349431.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058167.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000349431.11",
"protein_id": "ENSP00000305826.7",
"transcript_support_level": 1,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058167.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000349431.11"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.538G>T",
"hgvs_p": "p.Val180Leu",
"transcript": "NM_194315.2",
"protein_id": "NP_919296.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 275,
"cds_start": 538,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194315.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.538G>T",
"hgvs_p": "p.Val180Leu",
"transcript": "ENST00000400930.8",
"protein_id": "ENSP00000383719.4",
"transcript_support_level": 5,
"aa_start": 180,
"aa_end": null,
"aa_length": 275,
"cds_start": 538,
"cds_end": null,
"cds_length": 828,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000400930.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000360466.6",
"protein_id": "ENSP00000353653.2",
"transcript_support_level": 2,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360466.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905706.1",
"protein_id": "ENSP00000575765.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905706.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905707.1",
"protein_id": "ENSP00000575766.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905707.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905709.1",
"protein_id": "ENSP00000575768.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905709.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905710.1",
"protein_id": "ENSP00000575769.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905710.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905711.1",
"protein_id": "ENSP00000575770.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905711.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905712.1",
"protein_id": "ENSP00000575771.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905712.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905713.1",
"protein_id": "ENSP00000575772.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905713.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905714.1",
"protein_id": "ENSP00000575773.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905714.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000919402.1",
"protein_id": "ENSP00000589461.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919402.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000919403.1",
"protein_id": "ENSP00000589462.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919403.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000919404.1",
"protein_id": "ENSP00000589463.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919404.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000954858.1",
"protein_id": "ENSP00000624917.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954858.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000954859.1",
"protein_id": "ENSP00000624918.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 259,
"cds_start": 490,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954859.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.490G>T",
"hgvs_p": "p.Val164Leu",
"transcript": "ENST00000905705.1",
"protein_id": "ENSP00000575764.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 258,
"cds_start": 490,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905705.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.334G>T",
"hgvs_p": "p.Val112Leu",
"transcript": "NM_194457.2",
"protein_id": "NP_919439.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 207,
"cds_start": 334,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194457.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.334G>T",
"hgvs_p": "p.Val112Leu",
"transcript": "NM_194458.2",
"protein_id": "NP_919440.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 207,
"cds_start": 334,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194458.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "UBE2J2",
"gene_hgnc_id": 19268,
"hgvs_c": "c.334G>T",
"hgvs_p": "p.Val112Leu",
"transcript": "ENST00000347370.6",
"protein_id": "ENSP00000344857.2",
"transcript_support_level": 3,
"aa_start": 112,
"aa_end": null,
"aa_length": 207,
"cds_start": 334,
"cds_end": null,
"cds_length": 624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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"alphamissense_score": 0.4753,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.27,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.232,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_194315.2",
"gene_symbol": "UBE2J2",
"hgnc_id": 19268,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.538G>T",
"hgvs_p": "p.Val180Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}