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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: 11-77208433-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77208433&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYO7A",
"hgnc_id": 7606,
"hgvs_c": "c.5860C>T",
"hgvs_p": "p.Leu1954Phe",
"inheritance_mode": "AR,AD",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_000260.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.5449,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.36,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.3276439905166626,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2215,
"aa_ref": "L",
"aa_start": 1954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 6150,
"cds_end": null,
"cds_length": 6648,
"cds_start": 5860,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_000260.4",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5860C>T",
"hgvs_p": "p.Leu1954Phe",
"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": "F",
"aa_end": null,
"aa_length": 2215,
"aa_ref": "L",
"aa_start": 1954,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 6150,
"cds_end": null,
"cds_length": 6648,
"cds_start": 5860,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000409709.9",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5860C>T",
"hgvs_p": "p.Leu1954Phe",
"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": "F",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "L",
"aa_start": 1916,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7336,
"cdna_start": 6012,
"cds_end": null,
"cds_length": 6528,
"cds_start": 5746,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000458637.6",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5746C>T",
"hgvs_p": "p.Leu1916Phe",
"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": "F",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "L",
"aa_start": 1905,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7106,
"cdna_start": 6060,
"cds_end": null,
"cds_length": 6501,
"cds_start": 5713,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "ENST00000409619.6",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5713C>T",
"hgvs_p": "p.Leu1905Phe",
"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": "F",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "L",
"aa_start": 1096,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 3286,
"cds_end": null,
"cds_length": 4074,
"cds_start": 3286,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000458169.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.3286C>T",
"hgvs_p": "p.Leu1096Phe",
"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": 26,
"exon_rank_end": null,
"feature": "ENST00000670577.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.*458C>T",
"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": 26,
"exon_rank_end": null,
"feature": "ENST00000670577.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.*458C>T",
"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": "F",
"aa_end": null,
"aa_length": 2217,
"aa_ref": "L",
"aa_start": 1956,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7485,
"cdna_start": 6153,
"cds_end": null,
"cds_length": 6654,
"cds_start": 5866,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000962572.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5866C>T",
"hgvs_p": "p.Leu1956Phe",
"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": "F",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "L",
"aa_start": 1953,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7479,
"cdna_start": 6148,
"cds_end": null,
"cds_length": 6645,
"cds_start": 5857,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "ENST00000962571.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5857C>T",
"hgvs_p": "p.Leu1953Phe",
"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": "F",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "L",
"aa_start": 1916,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7363,
"cdna_start": 6036,
"cds_end": null,
"cds_length": 6528,
"cds_start": 5746,
"consequences": [
"missense_variant"
],
"exon_count": 49,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "NM_001127180.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5746C>T",
"hgvs_p": "p.Leu1916Phe",
"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": "F",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "L",
"aa_start": 1905,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7449,
"cdna_start": 6116,
"cds_end": null,
"cds_length": 6501,
"cds_start": 5713,
"consequences": [
"missense_variant"
],
"exon_count": 50,
"exon_rank": 44,
"exon_rank_end": null,
"feature": "NM_001369365.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5713C>T",
"hgvs_p": "p.Leu1905Phe",
"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": "F",
"aa_end": null,
"aa_length": 2258,
"aa_ref": "L",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7190,
"cdna_start": 6047,
"cds_end": null,
"cds_length": 6777,
"cds_start": 5950,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_011545046.3",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5950C>T",
"hgvs_p": "p.Leu1984Phe",
"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
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2256,
"aa_ref": "L",
"aa_start": 1982,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7184,
"cdna_start": 6041,
"cds_end": null,
"cds_length": 6771,
"cds_start": 5944,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_017017778.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5944C>T",
"hgvs_p": "p.Leu1982Phe",
"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": "F",
"aa_end": null,
"aa_length": 2255,
"aa_ref": "L",
"aa_start": 1981,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7181,
"cdna_start": 6038,
"cds_end": null,
"cds_length": 6768,
"cds_start": 5941,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_017017779.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5941C>T",
"hgvs_p": "p.Leu1981Phe",
"intron_rank": null,
"intron_rank_end": null,
"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": "F",
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"aa_length": 2245,
"aa_ref": "L",
"aa_start": 1984,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7380,
"cdna_start": 6047,
"cds_end": null,
"cds_length": 6738,
"cds_start": 5950,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017017780.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5950C>T",
"hgvs_p": "p.Leu1984Phe",
"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": "F",
"aa_end": null,
"aa_length": 2228,
"aa_ref": "L",
"aa_start": 1954,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7293,
"cdna_start": 6150,
"cds_end": null,
"cds_length": 6687,
"cds_start": 5860,
"consequences": [
"missense_variant"
],
"exon_count": 46,
"exon_rank": 43,
"exon_rank_end": null,
"feature": "XM_011545044.3",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5860C>T",
"hgvs_p": "p.Leu1954Phe",
"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": "F",
"aa_end": null,
"aa_length": 2226,
"aa_ref": "L",
"aa_start": 1952,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7094,
"cdna_start": 5951,
"cds_end": null,
"cds_length": 6681,
"cds_start": 5854,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017017781.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5854C>T",
"hgvs_p": "p.Leu1952Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873270.1",
"strand": true,
"transcript": "XM_017017781.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
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"aa_ref": "L",
"aa_start": 1946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7075,
"cdna_start": 5933,
"cds_end": null,
"cds_length": 6663,
"cds_start": 5836,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017017782.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5836C>T",
"hgvs_p": "p.Leu1946Phe",
"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": "F",
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"aa_length": 2219,
"aa_ref": "L",
"aa_start": 1945,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7072,
"cdna_start": 5930,
"cds_end": null,
"cds_length": 6660,
"cds_start": 5833,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017017783.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5833C>T",
"hgvs_p": "p.Leu1945Phe",
"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": "F",
"aa_end": null,
"aa_length": 2217,
"aa_ref": "L",
"aa_start": 1943,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7077,
"cdna_start": 5934,
"cds_end": null,
"cds_length": 6654,
"cds_start": 5827,
"consequences": [
"missense_variant"
],
"exon_count": 45,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_047426973.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5827C>T",
"hgvs_p": "p.Leu1943Phe",
"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": "F",
"aa_end": null,
"aa_length": 2207,
"aa_ref": "L",
"aa_start": 1946,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7266,
"cdna_start": 5933,
"cds_end": null,
"cds_length": 6624,
"cds_start": 5836,
"consequences": [
"missense_variant"
],
"exon_count": 48,
"exon_rank": 42,
"exon_rank_end": null,
"feature": "XM_017017788.2",
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