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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: 4-51899342-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=51899342&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 51899342,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001287755.1",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.579T>A",
"hgvs_p": "p.Phe193Leu",
"transcript": "NM_001040402.3",
"protein_id": "NP_001035492.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 292,
"cds_start": 579,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000334635.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001040402.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.579T>A",
"hgvs_p": "p.Phe193Leu",
"transcript": "ENST00000334635.10",
"protein_id": "ENSP00000334625.5",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 292,
"cds_start": 579,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001040402.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000334635.10"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.579T>A",
"hgvs_p": "p.Phe193Leu",
"transcript": "ENST00000381441.7",
"protein_id": "ENSP00000370850.3",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 257,
"cds_start": 579,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381441.7"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Phe237Leu",
"transcript": "NM_001287755.1",
"protein_id": "NP_001274684.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 336,
"cds_start": 711,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287755.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Phe237Leu",
"transcript": "ENST00000451288.6",
"protein_id": "ENSP00000389900.2",
"transcript_support_level": 2,
"aa_start": 237,
"aa_end": null,
"aa_length": 336,
"cds_start": 711,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451288.6"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.570T>A",
"hgvs_p": "p.Phe190Leu",
"transcript": "ENST00000893398.1",
"protein_id": "ENSP00000563457.1",
"transcript_support_level": null,
"aa_start": 190,
"aa_end": null,
"aa_length": 289,
"cds_start": 570,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893398.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.516T>A",
"hgvs_p": "p.Phe172Leu",
"transcript": "ENST00000927743.1",
"protein_id": "ENSP00000597802.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 271,
"cds_start": 516,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927743.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.579T>A",
"hgvs_p": "p.Phe193Leu",
"transcript": "NM_015115.4",
"protein_id": "NP_055930.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 257,
"cds_start": 579,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015115.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Phe156Leu",
"transcript": "ENST00000960097.1",
"protein_id": "ENSP00000630156.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 255,
"cds_start": 468,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960097.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.399T>A",
"hgvs_p": "p.Phe133Leu",
"transcript": "NM_001287757.2",
"protein_id": "NP_001274686.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 232,
"cds_start": 399,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001287757.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.468T>A",
"hgvs_p": "p.Phe156Leu",
"transcript": "ENST00000927742.1",
"protein_id": "ENSP00000597801.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 220,
"cds_start": 468,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927742.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Phe237Leu",
"transcript": "XM_005265731.4",
"protein_id": "XP_005265788.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 301,
"cds_start": 711,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005265731.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.585T>A",
"hgvs_p": "p.Phe195Leu",
"transcript": "XM_047449872.1",
"protein_id": "XP_047305828.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 294,
"cds_start": 585,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449872.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.585T>A",
"hgvs_p": "p.Phe195Leu",
"transcript": "XM_047449873.1",
"protein_id": "XP_047305829.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 294,
"cds_start": 585,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449873.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.585T>A",
"hgvs_p": "p.Phe195Leu",
"transcript": "XM_047449874.1",
"protein_id": "XP_047305830.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 294,
"cds_start": 585,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449874.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Phe237Leu",
"transcript": "XM_047449875.1",
"protein_id": "XP_047305831.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 274,
"cds_start": 711,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449875.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.585T>A",
"hgvs_p": "p.Phe195Leu",
"transcript": "XM_017007912.3",
"protein_id": "XP_016863401.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 259,
"cds_start": 585,
"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": "XM_017007912.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Phe237Leu",
"transcript": "XM_047449876.1",
"protein_id": "XP_047305832.1",
"transcript_support_level": null,
"aa_start": 237,
"aa_end": null,
"aa_length": 256,
"cds_start": 711,
"cds_end": null,
"cds_length": 771,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047449876.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.399T>A",
"hgvs_p": "p.Phe133Leu",
"transcript": "XM_011534380.2",
"protein_id": "XP_011532682.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 232,
"cds_start": 399,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534380.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.399T>A",
"hgvs_p": "p.Phe133Leu",
"transcript": "XM_024453943.2",
"protein_id": "XP_024309711.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 232,
"cds_start": 399,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453943.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.399T>A",
"hgvs_p": "p.Phe133Leu",
"transcript": "XM_024453944.2",
"protein_id": "XP_024309712.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 232,
"cds_start": 399,
"cds_end": null,
"cds_length": 699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453944.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCUN1D4",
"gene_hgnc_id": 28998,
"hgvs_c": "c.399T>A",
"hgvs_p": "p.Phe133Leu",
"transcript": "XM_047449871.1",
"protein_id": "XP_047305827.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 232,
"cds_start": 399,
"cds_end": null,
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"splice_source_selected": "max_spliceai",
"revel_score": 0.534,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9945,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.37,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.063,
"phylop100way_prediction": "Benign",
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001287755.1",
"gene_symbol": "DCUN1D4",
"hgnc_id": 28998,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.711T>A",
"hgvs_p": "p.Phe237Leu"
}
],
"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
}