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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: 6-18258391-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=18258391&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DEK",
"hgnc_id": 2768,
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_003472.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.6918,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "6",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2652817964553833,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 315,
"cds_end": null,
"cds_length": 1128,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_003472.4",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000652689.1",
"protein_coding": true,
"protein_id": "NP_003463.1",
"strand": false,
"transcript": "NM_003472.4",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3142,
"cdna_start": 315,
"cds_end": null,
"cds_length": 1128,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652689.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003472.4",
"protein_coding": true,
"protein_id": "ENSP00000498653.1",
"strand": false,
"transcript": "ENST00000652689.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 121,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 580,
"cdna_start": null,
"cds_end": null,
"cds_length": 367,
"cds_start": null,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000503715.5",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.-42G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425399.1",
"strand": false,
"transcript": "ENST00000503715.5",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 383,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2818,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1152,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852490.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522549.1",
"strand": false,
"transcript": "ENST00000852490.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 380,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3093,
"cdna_start": 309,
"cds_end": null,
"cds_length": 1143,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000507591.2",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423427.2",
"strand": false,
"transcript": "ENST00000507591.2",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 380,
"aa_ref": "V",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2851,
"cdna_start": 381,
"cds_end": null,
"cds_length": 1143,
"cds_start": 175,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000651992.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.175G>A",
"hgvs_p": "p.Val59Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498320.1",
"strand": false,
"transcript": "ENST00000651992.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 379,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1140,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943458.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613517.1",
"strand": false,
"transcript": "ENST00000943458.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1360,
"cdna_start": 339,
"cds_end": null,
"cds_length": 1128,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000652576.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498335.1",
"strand": false,
"transcript": "ENST00000652576.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2836,
"cdna_start": 330,
"cds_end": null,
"cds_length": 1128,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852492.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522551.1",
"strand": false,
"transcript": "ENST00000852492.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2961,
"cdna_start": 447,
"cds_end": null,
"cds_length": 1128,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919563.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589622.1",
"strand": false,
"transcript": "ENST00000919563.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 370,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2796,
"cdna_start": 326,
"cds_end": null,
"cds_length": 1113,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852489.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522548.1",
"strand": false,
"transcript": "ENST00000852489.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 370,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2799,
"cdna_start": 308,
"cds_end": null,
"cds_length": 1113,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000943459.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613518.1",
"strand": false,
"transcript": "ENST00000943459.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 353,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": 337,
"cds_end": null,
"cds_length": 1062,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919564.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589623.1",
"strand": false,
"transcript": "ENST00000919564.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 352,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2763,
"cdna_start": 326,
"cds_end": null,
"cds_length": 1059,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852487.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522546.1",
"strand": false,
"transcript": "ENST00000852487.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 312,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2642,
"cdna_start": 325,
"cds_end": null,
"cds_length": 939,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852488.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522547.1",
"strand": false,
"transcript": "ENST00000852488.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 312,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2674,
"cdna_start": 360,
"cds_end": null,
"cds_length": 939,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000919565.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000589624.1",
"strand": false,
"transcript": "ENST00000919565.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 303,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2587,
"cdna_start": 309,
"cds_end": null,
"cds_length": 912,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000651624.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498930.1",
"strand": false,
"transcript": "ENST00000651624.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 280,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2509,
"cdna_start": 309,
"cds_end": null,
"cds_length": 843,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000852491.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000522550.1",
"strand": false,
"transcript": "ENST00000852491.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 162,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1906,
"cdna_start": 282,
"cds_end": null,
"cds_length": 489,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000515742.2",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423553.2",
"strand": false,
"transcript": "ENST00000515742.2",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 375,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3112,
"cdna_start": 285,
"cds_end": null,
"cds_length": 1128,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_024446544.2",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024302312.1",
"strand": false,
"transcript": "XM_024446544.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 285,
"aa_ref": "V",
"aa_start": 54,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1068,
"cdna_start": 315,
"cds_end": null,
"cds_length": 858,
"cds_start": 160,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_047419335.1",
"gene_hgnc_id": 2768,
"gene_symbol": "DEK",
"hgvs_c": "c.160G>A",
"hgvs_p": "p.Val54Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047275291.1",
"strand": false,
"transcript": "XM_047419335.1",
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},
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}