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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: 11-77211314-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77211314&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO7A",
"hgnc_id": 7606,
"hgvs_c": "c.6214G>A",
"hgvs_p": "p.Val2072Ile",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -9,
"transcript": "NM_000260.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS1",
"acmg_score": -9,
"allele_count_reference_population": 522,
"alphamissense_prediction": null,
"alphamissense_score": 0.062,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Autosomal dominant nonsyndromic hearing loss 11,Autosomal recessive nonsyndromic hearing loss 2,Usher syndrome type 1,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:4 B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.004542440176010132,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2215,
"aa_ref": "V",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 6504,
"cds_end": null,
"cds_length": 6648,
"cds_start": 6214,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_000260.4",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6214G>A",
"hgvs_p": "p.Val2072Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409709.9",
"protein_coding": true,
"protein_id": "NP_000251.3",
"strand": true,
"transcript": "NM_000260.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2215,
"aa_ref": "V",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 6504,
"cds_end": null,
"cds_length": 6648,
"cds_start": 6214,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000409709.9",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6214G>A",
"hgvs_p": "p.Val2072Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000260.4",
"protein_coding": true,
"protein_id": "ENSP00000386331.3",
"strand": true,
"transcript": "ENST00000409709.9",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "V",
"aa_start": 2034,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7336,
"cdna_start": 6366,
"cds_end": null,
"cds_length": 6528,
"cds_start": 6100,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000458637.6",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6100G>A",
"hgvs_p": "p.Val2034Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392185.2",
"strand": true,
"transcript": "ENST00000458637.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "V",
"aa_start": 2023,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7106,
"cdna_start": 6414,
"cds_end": null,
"cds_length": 6501,
"cds_start": 6067,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "ENST00000409619.6",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6067G>A",
"hgvs_p": "p.Val2023Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386635.2",
"strand": true,
"transcript": "ENST00000409619.6",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "V",
"aa_start": 1214,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 3640,
"cds_end": null,
"cds_length": 4074,
"cds_start": 3640,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 25,
"exon_rank_end": null,
"feature": "ENST00000458169.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.3640G>A",
"hgvs_p": "p.Val1214Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417017.2",
"strand": true,
"transcript": "ENST00000458169.2",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000670577.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.*786G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499323.1",
"strand": true,
"transcript": "ENST00000670577.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": true,
"cdna_end": null,
"cdna_length": 4966,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 32,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000670577.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.*786G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499323.1",
"strand": true,
"transcript": "ENST00000670577.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2217,
"aa_ref": "V",
"aa_start": 2074,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7485,
"cdna_start": 6507,
"cds_end": null,
"cds_length": 6654,
"cds_start": 6220,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000962572.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6220G>A",
"hgvs_p": "p.Val2074Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632631.1",
"strand": true,
"transcript": "ENST00000962572.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "V",
"aa_start": 2071,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7479,
"cdna_start": 6502,
"cds_end": null,
"cds_length": 6645,
"cds_start": 6211,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "ENST00000962571.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6211G>A",
"hgvs_p": "p.Val2071Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000632630.1",
"strand": true,
"transcript": "ENST00000962571.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "V",
"aa_start": 2034,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7363,
"cdna_start": 6390,
"cds_end": null,
"cds_length": 6528,
"cds_start": 6100,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "NM_001127180.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6100G>A",
"hgvs_p": "p.Val2034Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001120652.1",
"strand": true,
"transcript": "NM_001127180.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "V",
"aa_start": 2023,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7449,
"cdna_start": 6470,
"cds_end": null,
"cds_length": 6501,
"cds_start": 6067,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 46,
"exon_rank_end": null,
"feature": "NM_001369365.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6067G>A",
"hgvs_p": "p.Val2023Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356294.1",
"strand": true,
"transcript": "NM_001369365.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2258,
"aa_ref": "V",
"aa_start": 2102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7190,
"cdna_start": 6401,
"cds_end": null,
"cds_length": 6777,
"cds_start": 6304,
"consequences": [
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],
"exon_count": 45,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_011545046.3",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6304G>A",
"hgvs_p": "p.Val2102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543348.2",
"strand": true,
"transcript": "XM_011545046.3",
"transcript_support_level": null
},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
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"cdna_start": 6395,
"cds_end": null,
"cds_length": 6771,
"cds_start": 6298,
"consequences": [
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],
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"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017017778.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6298G>A",
"hgvs_p": "p.Val2100Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873267.1",
"strand": true,
"transcript": "XM_017017778.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2255,
"aa_ref": "V",
"aa_start": 2099,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7181,
"cdna_start": 6392,
"cds_end": null,
"cds_length": 6768,
"cds_start": 6295,
"consequences": [
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],
"exon_count": 46,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_017017779.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6295G>A",
"hgvs_p": "p.Val2099Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873268.1",
"strand": true,
"transcript": "XM_017017779.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2245,
"aa_ref": "V",
"aa_start": 2102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7380,
"cdna_start": 6401,
"cds_end": null,
"cds_length": 6738,
"cds_start": 6304,
"consequences": [
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],
"exon_count": 48,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017017780.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6304G>A",
"hgvs_p": "p.Val2102Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873269.1",
"strand": true,
"transcript": "XM_017017780.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2228,
"aa_ref": "V",
"aa_start": 2072,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7293,
"cdna_start": 6504,
"cds_end": null,
"cds_length": 6687,
"cds_start": 6214,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 45,
"exon_rank_end": null,
"feature": "XM_011545044.3",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6214G>A",
"hgvs_p": "p.Val2072Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011543346.1",
"strand": true,
"transcript": "XM_011545044.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2226,
"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7094,
"cdna_start": 6305,
"cds_end": null,
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"cds_start": 6208,
"consequences": [
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],
"exon_count": 45,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017017781.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6208G>A",
"hgvs_p": "p.Val2070Ile",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873270.1",
"strand": true,
"transcript": "XM_017017781.2",
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},
{
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"aa_ref": "V",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7075,
"cdna_start": 6287,
"cds_end": null,
"cds_length": 6663,
"cds_start": 6190,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017017782.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6190G>A",
"hgvs_p": "p.Val2064Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873271.1",
"strand": true,
"transcript": "XM_017017782.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
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"aa_length": 2219,
"aa_ref": "V",
"aa_start": 2063,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7072,
"cdna_start": 6284,
"cds_end": null,
"cds_length": 6660,
"cds_start": 6187,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_017017783.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6187G>A",
"hgvs_p": "p.Val2063Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873272.1",
"strand": true,
"transcript": "XM_017017783.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2217,
"aa_ref": "V",
"aa_start": 2061,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7077,
"cdna_start": 6288,
"cds_end": null,
"cds_length": 6654,
"cds_start": 6181,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "XM_047426973.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.6181G>A",
"hgvs_p": "p.Val2061Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047282929.1",
"strand": true,
"transcript": "XM_047426973.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 2207,
"aa_ref": "V",
"aa_start": 2064,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7266,
"cdna_start": 6287,
"cds_end": null,
"cds_length": 6624,
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