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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: 10-26201286-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=26201286&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO3A",
"hgnc_id": 7601,
"hgvs_c": "c.4567C>G",
"hgvs_p": "p.Arg1523Gly",
"inheritance_mode": "AR,SD,AD",
"pathogenic_score": 0,
"score": -1,
"transcript": "NM_017433.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4",
"acmg_score": -1,
"allele_count_reference_population": 69,
"alphamissense_prediction": null,
"alphamissense_score": 0.183,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.05,
"chr": "10",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal recessive nonsyndromic hearing loss 30,Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:5 LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.2882310748100281,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "R",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 4771,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4567,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_017433.5",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4567C>G",
"hgvs_p": "p.Arg1523Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642920.2",
"protein_coding": true,
"protein_id": "NP_059129.3",
"strand": true,
"transcript": "NM_017433.5",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "R",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5624,
"cdna_start": 4771,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4567,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000642920.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4567C>G",
"hgvs_p": "p.Arg1523Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017433.5",
"protein_coding": true,
"protein_id": "ENSP00000495965.1",
"strand": true,
"transcript": "ENST00000642920.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 664,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": null,
"cds_end": null,
"cds_length": 1995,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 17,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000543632.5",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.1777-10557C>G",
"hgvs_p": null,
"intron_rank": 16,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000445909.1",
"strand": true,
"transcript": "ENST00000543632.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "R",
"aa_start": 1439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5376,
"cdna_start": 4523,
"cds_end": null,
"cds_length": 4599,
"cds_start": 4315,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000916509.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4315C>G",
"hgvs_p": "p.Arg1439Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586568.1",
"strand": true,
"transcript": "ENST00000916509.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1458,
"aa_ref": "R",
"aa_start": 1413,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5166,
"cdna_start": 4456,
"cds_end": null,
"cds_length": 4377,
"cds_start": 4237,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000916508.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4237C>G",
"hgvs_p": "p.Arg1413Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586567.1",
"strand": true,
"transcript": "ENST00000916508.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1432,
"aa_ref": "R",
"aa_start": 1387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 4337,
"cds_end": null,
"cds_length": 4299,
"cds_start": 4159,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000916510.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4159C>G",
"hgvs_p": "p.Arg1387Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000586569.1",
"strand": true,
"transcript": "ENST00000916510.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 97,
"aa_ref": "R",
"aa_start": 8,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 603,
"cdna_start": 22,
"cds_end": null,
"cds_length": 294,
"cds_start": 22,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000478093.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.22C>G",
"hgvs_p": "p.Arg8Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494647.1",
"strand": true,
"transcript": "ENST00000478093.2",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "R",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5822,
"cdna_start": 4969,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4567,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_011519498.3",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4567C>G",
"hgvs_p": "p.Arg1523Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517800.1",
"strand": true,
"transcript": "XM_011519498.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "R",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5929,
"cdna_start": 5076,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4567,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_011519499.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4567C>G",
"hgvs_p": "p.Arg1523Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517801.1",
"strand": true,
"transcript": "XM_011519499.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1616,
"aa_ref": "R",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5681,
"cdna_start": 4828,
"cds_end": null,
"cds_length": 4851,
"cds_start": 4567,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": 34,
"exon_rank_end": null,
"feature": "XM_011519500.3",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4567C>G",
"hgvs_p": "p.Arg1523Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517802.1",
"strand": true,
"transcript": "XM_011519500.3",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1612,
"aa_ref": "R",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5362,
"cdna_start": 4771,
"cds_end": null,
"cds_length": 4839,
"cds_start": 4567,
"consequences": [
"missense_variant"
],
"exon_count": 35,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_011519502.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4567C>G",
"hgvs_p": "p.Arg1523Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517804.1",
"strand": true,
"transcript": "XM_011519502.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1568,
"aa_ref": "R",
"aa_start": 1523,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5480,
"cdna_start": 4771,
"cds_end": null,
"cds_length": 4707,
"cds_start": 4567,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "XM_011519503.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4567C>G",
"hgvs_p": "p.Arg1523Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517805.1",
"strand": true,
"transcript": "XM_011519503.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1565,
"aa_ref": "T",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5286,
"cdna_start": 4577,
"cds_end": null,
"cds_length": 4698,
"cds_start": 4460,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_047425355.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4460C>G",
"hgvs_p": "p.Thr1487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281311.1",
"strand": true,
"transcript": "XM_047425355.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1564,
"aa_ref": "R",
"aa_start": 1471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5404,
"cdna_start": 4551,
"cds_end": null,
"cds_length": 4695,
"cds_start": 4411,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047425356.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4411C>G",
"hgvs_p": "p.Arg1471Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281312.1",
"strand": true,
"transcript": "XM_047425356.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1564,
"aa_ref": "R",
"aa_start": 1471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5381,
"cdna_start": 4528,
"cds_end": null,
"cds_length": 4695,
"cds_start": 4411,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_047425357.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4411C>G",
"hgvs_p": "p.Arg1471Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281313.1",
"strand": true,
"transcript": "XM_047425357.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1532,
"aa_ref": "R",
"aa_start": 1439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5372,
"cdna_start": 4519,
"cds_end": null,
"cds_length": 4599,
"cds_start": 4315,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "XM_011519505.2",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4315C>G",
"hgvs_p": "p.Arg1439Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011517807.1",
"strand": true,
"transcript": "XM_011519505.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1516,
"aa_ref": "R",
"aa_start": 1471,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5324,
"cdna_start": 4615,
"cds_end": null,
"cds_length": 4551,
"cds_start": 4411,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047425358.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4411C>G",
"hgvs_p": "p.Arg1471Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281314.1",
"strand": true,
"transcript": "XM_047425358.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1505,
"aa_ref": "T",
"aa_start": 1487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4805,
"cdna_start": 4664,
"cds_end": null,
"cds_length": 4518,
"cds_start": 4460,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "XM_047425359.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4460C>G",
"hgvs_p": "p.Thr1487Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281315.1",
"strand": true,
"transcript": "XM_047425359.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1484,
"aa_ref": "R",
"aa_start": 1439,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5141,
"cdna_start": 4432,
"cds_end": null,
"cds_length": 4455,
"cds_start": 4315,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "XM_047425360.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4315C>G",
"hgvs_p": "p.Arg1439Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281316.1",
"strand": true,
"transcript": "XM_047425360.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 1480,
"aa_ref": "R",
"aa_start": 1387,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5129,
"cdna_start": 4276,
"cds_end": null,
"cds_length": 4443,
"cds_start": 4159,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "XM_047425361.1",
"gene_hgnc_id": 7601,
"gene_symbol": "MYO3A",
"hgvs_c": "c.4159C>G",
"hgvs_p": "p.Arg1387Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047281317.1",
"strand": true,
"transcript": "XM_047425361.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "N",
"aa_start": 1140,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3755,
"cdna_start": 3624,
"cds_end": null,
"cds_length": 3456,
"cds_start": 3420,
"consequences": [
"missense_variant"
],
"exon_count": 31,
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