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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: 15-67592942-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=67592942&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAP2K5",
"hgnc_id": 6845,
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_145160.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.1206,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.07,
"chr": "15",
"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": 0.27371376752853394,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1347,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_145160.3",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000178640.10",
"protein_coding": true,
"protein_id": "NP_660143.1",
"strand": true,
"transcript": "NM_145160.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 448,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2344,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1347,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000178640.10",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_145160.3",
"protein_coding": true,
"protein_id": "ENSP00000178640.5",
"strand": true,
"transcript": "ENST00000178640.10",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 438,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1689,
"cdna_start": 453,
"cds_end": null,
"cds_length": 1317,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000395476.6",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000378859.2",
"strand": true,
"transcript": "ENST00000395476.6",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 505,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2187,
"cdna_start": 759,
"cds_end": null,
"cds_length": 1518,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952141.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622200.1",
"strand": true,
"transcript": "ENST00000952141.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 490,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2454,
"cdna_start": 1072,
"cds_end": null,
"cds_length": 1473,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879775.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549834.1",
"strand": true,
"transcript": "ENST00000879775.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 480,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2466,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1443,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879770.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549829.1",
"strand": true,
"transcript": "ENST00000879770.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 468,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2293,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1407,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952139.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622198.1",
"strand": true,
"transcript": "ENST00000952139.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 463,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1392,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879777.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549836.1",
"strand": true,
"transcript": "ENST00000879777.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 458,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2279,
"cdna_start": 986,
"cds_end": null,
"cds_length": 1377,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879778.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549837.1",
"strand": true,
"transcript": "ENST00000879778.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 453,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 1098,
"cds_end": null,
"cds_length": 1362,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879773.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549832.1",
"strand": true,
"transcript": "ENST00000879773.1",
"transcript_support_level": null
},
{
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"aa_length": 447,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2017,
"cdna_start": 762,
"cds_end": null,
"cds_length": 1344,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952140.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622199.1",
"strand": true,
"transcript": "ENST00000952140.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 439,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2321,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1320,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879774.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549833.1",
"strand": true,
"transcript": "ENST00000879774.1",
"transcript_support_level": null
},
{
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"aa_length": 438,
"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cds_end": null,
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"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_002757.4",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002748.1",
"strand": true,
"transcript": "NM_002757.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 429,
"aa_ref": "A",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 1290,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879769.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549828.1",
"strand": true,
"transcript": "ENST00000879769.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 1049,
"cds_end": null,
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"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952137.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622196.1",
"strand": true,
"transcript": "ENST00000952137.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 424,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2291,
"cdna_start": 1103,
"cds_end": null,
"cds_length": 1275,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879772.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549831.1",
"strand": true,
"transcript": "ENST00000879772.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 418,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2256,
"cdna_start": 1084,
"cds_end": null,
"cds_length": 1257,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952135.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000622194.1",
"strand": true,
"transcript": "ENST00000952135.1",
"transcript_support_level": null
},
{
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"aa_ref": "A",
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"biotype": "protein_coding",
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"cds_end": null,
"cds_length": 1245,
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"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000952136.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000622195.1",
"strand": true,
"transcript": "ENST00000952136.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 587,
"cds_end": null,
"cds_length": 1242,
"cds_start": 448,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000879780.1",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.448G>T",
"hgvs_p": "p.Ala150Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549839.1",
"strand": true,
"transcript": "ENST00000879780.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 412,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 427,
"cds_end": null,
"cds_length": 1239,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001206804.2",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.340G>T",
"hgvs_p": "p.Ala114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001193733.1",
"strand": true,
"transcript": "NM_001206804.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 412,
"aa_ref": "A",
"aa_start": 114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1783,
"cdna_start": 523,
"cds_end": null,
"cds_length": 1239,
"cds_start": 340,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000354498.9",
"gene_hgnc_id": 6845,
"gene_symbol": "MAP2K5",
"hgvs_c": "c.340G>T",
"hgvs_p": "p.Ala114Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
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