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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: 15-52319042-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=52319042&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "MYO5A",
"hgnc_id": 7602,
"hgvs_c": "c.5306+18C>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_001382348.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.87,
"chr": "15",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8700000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1880,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12130,
"cdna_start": null,
"cds_end": null,
"cds_length": 5643,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382347.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5234+18C>A",
"hgvs_p": null,
"intron_rank": 39,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399233.7",
"protein_coding": true,
"protein_id": "NP_001369276.1",
"strand": false,
"transcript": "NM_001382347.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1880,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 12130,
"cdna_start": null,
"cds_end": null,
"cds_length": 5643,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000399233.7",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5234+18C>A",
"hgvs_p": null,
"intron_rank": 39,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001382347.1",
"protein_coding": true,
"protein_id": "ENSP00000382179.4",
"strand": false,
"transcript": "ENST00000399233.7",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1855,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12227,
"cdna_start": null,
"cds_end": null,
"cds_length": 5568,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000399231.8",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5159+18C>A",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382177.3",
"strand": false,
"transcript": "ENST00000399231.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1853,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12010,
"cdna_start": null,
"cds_end": null,
"cds_length": 5562,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356338.11",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5153+18C>A",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000348693.7",
"strand": false,
"transcript": "ENST00000356338.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 722,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2169,
"cdna_start": null,
"cds_end": null,
"cds_length": 2169,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 15,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000399229.7",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.1760+18C>A",
"hgvs_p": null,
"intron_rank": 12,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382175.3",
"strand": false,
"transcript": "ENST00000399229.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2622,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 16,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000399228.6",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "n.*926+18C>A",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000382174.2",
"strand": false,
"transcript": "ENST00000399228.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1904,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12250,
"cdna_start": null,
"cds_end": null,
"cds_length": 5715,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 43,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382348.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5306+18C>A",
"hgvs_p": null,
"intron_rank": 40,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369277.1",
"strand": false,
"transcript": "NM_001382348.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1879,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12175,
"cdna_start": null,
"cds_end": null,
"cds_length": 5640,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 42,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001382349.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5231+18C>A",
"hgvs_p": null,
"intron_rank": 39,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001369278.1",
"strand": false,
"transcript": "NM_001382349.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1855,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12225,
"cdna_start": null,
"cds_end": null,
"cds_length": 5568,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000259.3",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5159+18C>A",
"hgvs_p": null,
"intron_rank": 38,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_000250.3",
"strand": false,
"transcript": "NM_000259.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 1852,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12046,
"cdna_start": null,
"cds_end": null,
"cds_length": 5559,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001411135.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5150+18C>A",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001398064.1",
"strand": false,
"transcript": "NM_001411135.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
"cds_length": 5559,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000692556.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5150+18C>A",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510378.1",
"strand": false,
"transcript": "ENST00000692556.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6186,
"cdna_start": null,
"cds_end": null,
"cds_length": 5526,
"cds_start": null,
"consequences": [
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],
"exon_count": 40,
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"feature": "ENST00000553916.6",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5117+18C>A",
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"intron_rank": 37,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000451109.2",
"strand": false,
"transcript": "ENST00000553916.6",
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},
{
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"cds_end": null,
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"consequences": [
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],
"exon_count": 40,
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"feature": "NM_001142495.2",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5078+18C>A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "NP_001135967.2",
"strand": false,
"transcript": "NM_001142495.2",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12223,
"cdna_start": null,
"cds_end": null,
"cds_length": 5487,
"cds_start": null,
"consequences": [
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],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000687574.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5078+18C>A",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000510312.1",
"strand": false,
"transcript": "ENST00000687574.1",
"transcript_support_level": null
},
{
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],
"exon_count": 23,
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"feature": "ENST00000688074.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.2786+18C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509404.1",
"strand": false,
"transcript": "ENST00000688074.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_length": 4097,
"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
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"feature": "ENST00000692646.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.2780+18C>A",
"hgvs_p": null,
"intron_rank": 20,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000510243.1",
"strand": false,
"transcript": "ENST00000692646.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3871,
"cdna_start": null,
"cds_end": null,
"cds_length": 3123,
"cds_start": null,
"consequences": [
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],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000685194.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.2714+18C>A",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000509314.1",
"strand": false,
"transcript": "ENST00000685194.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 41,
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"feature": "XM_047432540.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "XP_047288496.1",
"strand": false,
"transcript": "XM_047432540.1",
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},
{
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"consequences": [
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],
"exon_count": 41,
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"feature": "XM_047432541.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
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"mane_plus": null,
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"protein_id": "XP_047288497.1",
"strand": false,
"transcript": "XM_047432541.1",
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},
{
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"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 40,
"exon_rank": null,
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"feature": "XM_047432543.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5144+18C>A",
"hgvs_p": null,
"intron_rank": 37,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288499.1",
"strand": false,
"transcript": "XM_047432543.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 12135,
"cdna_start": null,
"cds_end": null,
"cds_length": 5478,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047432544.1",
"gene_hgnc_id": 7602,
"gene_symbol": "MYO5A",
"hgvs_c": "c.5069+18C>A",
"hgvs_p": null,
"intron_rank": 36,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047288500.1",
"strand": false,
"transcript": "XM_047432544.1",
"transcript_support_level": null
},
{
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