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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: 10-86716566-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86716566&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LDB3",
"hgnc_id": 15710,
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Met",
"inheritance_mode": "AD,AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_001171610.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.1292,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.24,
"chr": "10",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Myofibrillar myopathy 4",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.46051669120788574,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 727,
"aa_ref": "V",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5363,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_007078.3",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361373.9",
"protein_coding": true,
"protein_id": "NP_009009.1",
"strand": true,
"transcript": "NM_007078.3",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 727,
"aa_ref": "V",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5363,
"cdna_start": 1554,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000361373.9",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007078.3",
"protein_coding": true,
"protein_id": "ENSP00000355296.3",
"strand": true,
"transcript": "ENST00000361373.9",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 795,
"aa_ref": "V",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2436,
"cdna_start": 1695,
"cds_end": null,
"cds_length": 2388,
"cds_start": 1675,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000945680.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1675G>A",
"hgvs_p": "p.Val559Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615739.1",
"strand": true,
"transcript": "ENST00000945680.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 774,
"aa_ref": "V",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4681,
"cdna_start": 1665,
"cds_end": null,
"cds_length": 2325,
"cds_start": 1612,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871464.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1612G>A",
"hgvs_p": "p.Val538Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541523.1",
"strand": true,
"transcript": "ENST00000871464.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 743,
"aa_ref": "V",
"aa_start": 507,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 2232,
"cds_start": 1519,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871462.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1519G>A",
"hgvs_p": "p.Val507Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541521.1",
"strand": true,
"transcript": "ENST00000871462.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 732,
"aa_ref": "V",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5378,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001171610.2",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001165081.1",
"strand": true,
"transcript": "NM_001171610.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 732,
"aa_ref": "V",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2309,
"cdna_start": 1571,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000623056.4",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000485500.1",
"strand": true,
"transcript": "ENST00000623056.4",
"transcript_support_level": 5
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 732,
"aa_ref": "V",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4661,
"cdna_start": 1645,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871441.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541500.1",
"strand": true,
"transcript": "ENST00000871441.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 732,
"aa_ref": "V",
"aa_start": 496,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4585,
"cdna_start": 1569,
"cds_end": null,
"cds_length": 2199,
"cds_start": 1486,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871460.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1486G>A",
"hgvs_p": "p.Val496Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541519.1",
"strand": true,
"transcript": "ENST00000871460.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 727,
"aa_ref": "V",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5414,
"cdna_start": 1605,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871439.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541498.1",
"strand": true,
"transcript": "ENST00000871439.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 727,
"aa_ref": "V",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4610,
"cdna_start": 1594,
"cds_end": null,
"cds_length": 2184,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000871467.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541526.1",
"strand": true,
"transcript": "ENST00000871467.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 711,
"aa_ref": "V",
"aa_start": 475,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4618,
"cdna_start": 1603,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1423,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871456.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1423G>A",
"hgvs_p": "p.Val475Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541515.1",
"strand": true,
"transcript": "ENST00000871456.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 710,
"aa_ref": "V",
"aa_start": 491,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4523,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 2133,
"cds_start": 1471,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871458.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1471G>A",
"hgvs_p": "p.Val491Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541517.1",
"strand": true,
"transcript": "ENST00000871458.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 696,
"aa_ref": "V",
"aa_start": 460,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4574,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 2091,
"cds_start": 1378,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000871454.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1378G>A",
"hgvs_p": "p.Val460Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541513.1",
"strand": true,
"transcript": "ENST00000871454.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 680,
"aa_ref": "V",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5222,
"cdna_start": 1413,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001368066.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001354995.1",
"strand": true,
"transcript": "NM_001368066.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 680,
"aa_ref": "V",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 1395,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000689740.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510300.1",
"strand": true,
"transcript": "ENST00000689740.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 680,
"aa_ref": "V",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3652,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000693680.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509539.1",
"strand": true,
"transcript": "ENST00000693680.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 680,
"aa_ref": "V",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5224,
"cdna_start": 1419,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871440.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541499.1",
"strand": true,
"transcript": "ENST00000871440.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 680,
"aa_ref": "V",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4426,
"cdna_start": 1410,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871442.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541501.1",
"strand": true,
"transcript": "ENST00000871442.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 680,
"aa_ref": "V",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5321,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000871446.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
"hgvs_c": "c.1330G>A",
"hgvs_p": "p.Val444Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541505.1",
"strand": true,
"transcript": "ENST00000871446.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 680,
"aa_ref": "V",
"aa_start": 444,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4530,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1330,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000871450.1",
"gene_hgnc_id": 15710,
"gene_symbol": "LDB3",
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