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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: 11-77203150-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77203150&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 15,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "MYO7A",
"hgnc_id": 7606,
"hgvs_c": "c.5259G>A",
"hgvs_p": "p.Lys1753Lys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -15,
"transcript": "NM_000260.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_score": -15,
"allele_count_reference_population": 233,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.3,
"chr": "11",
"clinvar_classification": "Likely benign",
"clinvar_disease": "MYO7A-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.30000001192092896,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2215,
"aa_ref": "K",
"aa_start": 1753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 5549,
"cds_end": null,
"cds_length": 6648,
"cds_start": 5259,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_000260.4",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5259G>A",
"hgvs_p": "p.Lys1753Lys",
"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": "K",
"aa_end": null,
"aa_length": 2215,
"aa_ref": "K",
"aa_start": 1753,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7483,
"cdna_start": 5549,
"cds_end": null,
"cds_length": 6648,
"cds_start": 5259,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000409709.9",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5259G>A",
"hgvs_p": "p.Lys1753Lys",
"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": "K",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "K",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7336,
"cdna_start": 5411,
"cds_end": null,
"cds_length": 6528,
"cds_start": 5145,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000458637.6",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5145G>A",
"hgvs_p": "p.Lys1715Lys",
"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": "K",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "K",
"aa_start": 1704,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7106,
"cdna_start": 5459,
"cds_end": null,
"cds_length": 6501,
"cds_start": 5112,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "ENST00000409619.6",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5112G>A",
"hgvs_p": "p.Lys1704Lys",
"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": "K",
"aa_end": null,
"aa_length": 1357,
"aa_ref": "K",
"aa_start": 895,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4616,
"cdna_start": 2685,
"cds_end": null,
"cds_length": 4074,
"cds_start": 2685,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000458169.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.2685G>A",
"hgvs_p": "p.Lys895Lys",
"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": 21,
"exon_rank_end": null,
"feature": "ENST00000670577.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "n.3099G>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": "K",
"aa_end": null,
"aa_length": 2217,
"aa_ref": "K",
"aa_start": 1755,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7485,
"cdna_start": 5552,
"cds_end": null,
"cds_length": 6654,
"cds_start": 5265,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000962572.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5265G>A",
"hgvs_p": "p.Lys1755Lys",
"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": "K",
"aa_end": null,
"aa_length": 2214,
"aa_ref": "K",
"aa_start": 1752,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7479,
"cdna_start": 5547,
"cds_end": null,
"cds_length": 6645,
"cds_start": 5256,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "ENST00000962571.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5256G>A",
"hgvs_p": "p.Lys1752Lys",
"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": "K",
"aa_end": null,
"aa_length": 2175,
"aa_ref": "K",
"aa_start": 1715,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7363,
"cdna_start": 5435,
"cds_end": null,
"cds_length": 6528,
"cds_start": 5145,
"consequences": [
"synonymous_variant"
],
"exon_count": 49,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "NM_001127180.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5145G>A",
"hgvs_p": "p.Lys1715Lys",
"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": "K",
"aa_end": null,
"aa_length": 2166,
"aa_ref": "K",
"aa_start": 1704,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7449,
"cdna_start": 5515,
"cds_end": null,
"cds_length": 6501,
"cds_start": 5112,
"consequences": [
"synonymous_variant"
],
"exon_count": 50,
"exon_rank": 39,
"exon_rank_end": null,
"feature": "NM_001369365.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5112G>A",
"hgvs_p": "p.Lys1704Lys",
"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": "K",
"aa_end": null,
"aa_length": 2258,
"aa_ref": "K",
"aa_start": 1783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7190,
"cdna_start": 5446,
"cds_end": null,
"cds_length": 6777,
"cds_start": 5349,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_011545046.3",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5349G>A",
"hgvs_p": "p.Lys1783Lys",
"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": "K",
"aa_end": null,
"aa_length": 2256,
"aa_ref": "K",
"aa_start": 1781,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7184,
"cdna_start": 5440,
"cds_end": null,
"cds_length": 6771,
"cds_start": 5343,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_017017778.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5343G>A",
"hgvs_p": "p.Lys1781Lys",
"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": "K",
"aa_end": null,
"aa_length": 2255,
"aa_ref": "K",
"aa_start": 1780,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7181,
"cdna_start": 5437,
"cds_end": null,
"cds_length": 6768,
"cds_start": 5340,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_017017779.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5340G>A",
"hgvs_p": "p.Lys1780Lys",
"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": "K",
"aa_end": null,
"aa_length": 2245,
"aa_ref": "K",
"aa_start": 1783,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7380,
"cdna_start": 5446,
"cds_end": null,
"cds_length": 6738,
"cds_start": 5349,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_017017780.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5349G>A",
"hgvs_p": "p.Lys1783Lys",
"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": "K",
"aa_end": null,
"aa_length": 2228,
"aa_ref": "K",
"aa_start": 1753,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7293,
"cdna_start": 5549,
"cds_end": null,
"cds_length": 6687,
"cds_start": 5259,
"consequences": [
"synonymous_variant"
],
"exon_count": 46,
"exon_rank": 38,
"exon_rank_end": null,
"feature": "XM_011545044.3",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5259G>A",
"hgvs_p": "p.Lys1753Lys",
"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": "K",
"aa_end": null,
"aa_length": 2226,
"aa_ref": "K",
"aa_start": 1751,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7094,
"cdna_start": 5350,
"cds_end": null,
"cds_length": 6681,
"cds_start": 5253,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_017017781.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5253G>A",
"hgvs_p": "p.Lys1751Lys",
"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": "K",
"aa_end": null,
"aa_length": 2220,
"aa_ref": "K",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7075,
"cdna_start": 5332,
"cds_end": null,
"cds_length": 6663,
"cds_start": 5235,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_017017782.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5235G>A",
"hgvs_p": "p.Lys1745Lys",
"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": "K",
"aa_end": null,
"aa_length": 2219,
"aa_ref": "K",
"aa_start": 1744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7072,
"cdna_start": 5329,
"cds_end": null,
"cds_length": 6660,
"cds_start": 5232,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_017017783.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5232G>A",
"hgvs_p": "p.Lys1744Lys",
"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": "K",
"aa_end": null,
"aa_length": 2217,
"aa_ref": "K",
"aa_start": 1742,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7077,
"cdna_start": 5333,
"cds_end": null,
"cds_length": 6654,
"cds_start": 5226,
"consequences": [
"synonymous_variant"
],
"exon_count": 45,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_047426973.1",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5226G>A",
"hgvs_p": "p.Lys1742Lys",
"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": "K",
"aa_end": null,
"aa_length": 2207,
"aa_ref": "K",
"aa_start": 1745,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7266,
"cdna_start": 5332,
"cds_end": null,
"cds_length": 6624,
"cds_start": 5235,
"consequences": [
"synonymous_variant"
],
"exon_count": 48,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "XM_017017788.2",
"gene_hgnc_id": 7606,
"gene_symbol": "MYO7A",
"hgvs_c": "c.5235G>A",
"hgvs_p": "p.Lys1745Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016873277.1",
"strand": true,
"transcript": "XM_017017788.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 2206,
"aa_ref": "K",
"aa_start": 1744,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7263,
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