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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: 5-177458254-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177458254&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "DBN1",
"hgnc_id": 2695,
"hgvs_c": "c.1724G>A",
"hgvs_p": "p.Cys575Tyr",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001393630.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0909,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.41,
"chr": "5",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.17711526155471802,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 695,
"aa_ref": "C",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001363541.2",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Cys573Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000393565.6",
"protein_coding": true,
"protein_id": "NP_001350470.2",
"strand": false,
"transcript": "NM_001363541.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 695,
"aa_ref": "C",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 1831,
"cds_end": null,
"cds_length": 2088,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000393565.6",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1718G>A",
"hgvs_p": "p.Cys573Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001363541.2",
"protein_coding": true,
"protein_id": "ENSP00000377195.1",
"strand": false,
"transcript": "ENST00000393565.6",
"transcript_support_level": 5
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 651,
"aa_ref": "C",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3072,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000292385.9",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Cys529Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000292385.5",
"strand": false,
"transcript": "ENST00000292385.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 649,
"aa_ref": "C",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2995,
"cdna_start": 1800,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000309007.9",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Cys527Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000308532.5",
"strand": false,
"transcript": "ENST00000309007.9",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 697,
"aa_ref": "C",
"aa_start": 575,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3169,
"cdna_start": 1976,
"cds_end": null,
"cds_length": 2094,
"cds_start": 1724,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001393630.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1724G>A",
"hgvs_p": "p.Cys575Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380559.1",
"strand": false,
"transcript": "NM_001393630.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 694,
"aa_ref": "C",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3021,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001364151.2",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Cys572Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001351080.2",
"strand": false,
"transcript": "NM_001364151.2",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 694,
"aa_ref": "C",
"aa_start": 572,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2422,
"cdna_start": 1842,
"cds_end": null,
"cds_length": 2085,
"cds_start": 1715,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853644.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1715G>A",
"hgvs_p": "p.Cys572Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523703.1",
"strand": false,
"transcript": "ENST00000853644.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 668,
"aa_ref": "C",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2609,
"cdna_start": 1740,
"cds_end": null,
"cds_length": 2007,
"cds_start": 1637,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000853643.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1637G>A",
"hgvs_p": "p.Cys546Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523702.1",
"strand": false,
"transcript": "ENST00000853643.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 651,
"aa_ref": "C",
"aa_start": 529,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3031,
"cdna_start": 1838,
"cds_end": null,
"cds_length": 1956,
"cds_start": 1586,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_080881.3",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1586G>A",
"hgvs_p": "p.Cys529Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_543157.2",
"strand": false,
"transcript": "NM_080881.3",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 649,
"aa_ref": "C",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2886,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_004395.4",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Cys527Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_004386.3",
"strand": false,
"transcript": "NM_004395.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 649,
"aa_ref": "C",
"aa_start": 527,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1643,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1580,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000853640.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1580G>A",
"hgvs_p": "p.Cys527Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523699.1",
"strand": false,
"transcript": "ENST00000853640.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 648,
"aa_ref": "C",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2999,
"cdna_start": 1809,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000853639.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Cys526Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523698.1",
"strand": false,
"transcript": "ENST00000853639.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 648,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2595,
"cdna_start": 1711,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000853641.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Cys526Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523700.1",
"strand": false,
"transcript": "ENST00000853641.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 648,
"aa_ref": "C",
"aa_start": 526,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2960,
"cdna_start": 1764,
"cds_end": null,
"cds_length": 1947,
"cds_start": 1577,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952661.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Cys526Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622720.1",
"strand": false,
"transcript": "ENST00000952661.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 647,
"aa_ref": "C",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2611,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952662.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Cys525Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622721.1",
"strand": false,
"transcript": "ENST00000952662.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 647,
"aa_ref": "C",
"aa_start": 525,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1657,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1574,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000952663.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1574G>A",
"hgvs_p": "p.Cys525Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622722.1",
"strand": false,
"transcript": "ENST00000952663.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 632,
"aa_ref": "C",
"aa_start": 510,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2890,
"cdna_start": 1697,
"cds_end": null,
"cds_length": 1899,
"cds_start": 1529,
"consequences": [
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],
"exon_count": 15,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "NM_001393631.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1529G>A",
"hgvs_p": "p.Cys510Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001380560.1",
"strand": false,
"transcript": "NM_001393631.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
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"aa_length": 629,
"aa_ref": "C",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2934,
"cdna_start": 1744,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1520,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000952660.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1520G>A",
"hgvs_p": "p.Cys507Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622719.1",
"strand": false,
"transcript": "ENST00000952660.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 600,
"aa_ref": "C",
"aa_start": 478,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2443,
"cdna_start": 1560,
"cds_end": null,
"cds_length": 1803,
"cds_start": 1433,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000853642.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Cys478Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000523701.1",
"strand": false,
"transcript": "ENST00000853642.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 391,
"aa_ref": "C",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1878,
"cdna_start": 991,
"cds_end": null,
"cds_length": 1176,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000512501.1",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
"hgvs_c": "c.776G>A",
"hgvs_p": "p.Cys259Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423208.1",
"strand": false,
"transcript": "ENST00000512501.1",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 381,
"aa_ref": "C",
"aa_start": 259,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 1004,
"cds_end": null,
"cds_length": 1146,
"cds_start": 776,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001364152.2",
"gene_hgnc_id": 2695,
"gene_symbol": "DBN1",
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