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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: 3-123618662-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123618662&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MYLK",
"hgnc_id": 7590,
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"inheritance_mode": "AD,Unknown,AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_053025.4",
"verdict": "Likely_benign"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "MYLK-AS1",
"hgnc_id": 42440,
"hgvs_c": "n.274-10832G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000470449.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS1",
"acmg_score": -4,
"allele_count_reference_population": 953,
"alphamissense_prediction": null,
"alphamissense_score": 0.3611,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.08,
"chr": "3",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": " familial thoracic 7,Aortic aneurysm,Familial thoracic aortic aneurysm and aortic dissection,MYLK-related disorder,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:8 LB:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.4766220450401306,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "A",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10113,
"cdna_start": 5789,
"cds_end": null,
"cds_length": 5745,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "NM_053025.4",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000360304.8",
"protein_coding": true,
"protein_id": "NP_444253.3",
"strand": false,
"transcript": "NM_053025.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "A",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 10113,
"cdna_start": 5789,
"cds_end": null,
"cds_length": 5745,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000360304.8",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_053025.4",
"protein_coding": true,
"protein_id": "ENSP00000353452.3",
"strand": false,
"transcript": "ENST00000360304.8",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 154,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7282,
"cdna_start": 5219,
"cds_end": null,
"cds_length": 465,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000418370.6",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000428967.1",
"strand": false,
"transcript": "ENST00000418370.6",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 82,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 294,
"cds_end": null,
"cds_length": 249,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000578202.2",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463691.2",
"strand": false,
"transcript": "ENST00000578202.2",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 76,
"aa_ref": "A",
"aa_start": 66,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6291,
"cdna_start": 3981,
"cds_end": null,
"cds_length": 231,
"cds_start": 197,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000515434.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.197C>T",
"hgvs_p": "p.Ala66Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509521.1",
"strand": false,
"transcript": "ENST00000515434.1",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000464489.5",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "n.*5056C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417798.1",
"strand": false,
"transcript": "ENST00000464489.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 5901,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000464489.5",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "n.*5056C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000417798.1",
"strand": false,
"transcript": "ENST00000464489.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1378,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000470449.3",
"gene_hgnc_id": 42440,
"gene_symbol": "MYLK-AS1",
"hgvs_c": "n.274-10832G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000470449.3",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1924,
"aa_ref": "A",
"aa_start": 1836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5956,
"cdna_start": 5669,
"cds_end": null,
"cds_length": 5775,
"cds_start": 5507,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000687848.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5507C>T",
"hgvs_p": "p.Ala1836Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508761.1",
"strand": false,
"transcript": "ENST00000687848.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "A",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6162,
"cdna_start": 5836,
"cds_end": null,
"cds_length": 5745,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000686761.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508758.1",
"strand": false,
"transcript": "ENST00000686761.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "A",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6117,
"cdna_start": 5773,
"cds_end": null,
"cds_length": 5745,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000971487.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641546.1",
"strand": false,
"transcript": "ENST00000971487.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "A",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6041,
"cdna_start": 5697,
"cds_end": null,
"cds_length": 5745,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000971488.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641547.1",
"strand": false,
"transcript": "ENST00000971488.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "A",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8025,
"cdna_start": 5948,
"cds_end": null,
"cds_length": 5745,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000971489.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641548.1",
"strand": false,
"transcript": "ENST00000971489.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1914,
"aa_ref": "A",
"aa_start": 1826,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6005,
"cdna_start": 5678,
"cds_end": null,
"cds_length": 5745,
"cds_start": 5477,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "ENST00000971490.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5477C>T",
"hgvs_p": "p.Ala1826Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000641549.1",
"strand": false,
"transcript": "ENST00000971490.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1913,
"aa_ref": "A",
"aa_start": 1825,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5783,
"cdna_start": 5477,
"cds_end": null,
"cds_length": 5742,
"cds_start": 5474,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 30,
"exon_rank_end": null,
"feature": "ENST00000686406.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5474C>T",
"hgvs_p": "p.Ala1825Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509044.1",
"strand": false,
"transcript": "ENST00000686406.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1863,
"aa_ref": "A",
"aa_start": 1775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9960,
"cdna_start": 5636,
"cds_end": null,
"cds_length": 5592,
"cds_start": 5324,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_053027.4",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5324C>T",
"hgvs_p": "p.Ala1775Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444255.3",
"strand": false,
"transcript": "NM_053027.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1863,
"aa_ref": "A",
"aa_start": 1775,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10027,
"cdna_start": 5703,
"cds_end": null,
"cds_length": 5592,
"cds_start": 5324,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 33,
"exon_rank_end": null,
"feature": "ENST00000360772.7",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5324C>T",
"hgvs_p": "p.Ala1775Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000354004.3",
"strand": false,
"transcript": "ENST00000360772.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1845,
"aa_ref": "A",
"aa_start": 1757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9906,
"cdna_start": 5582,
"cds_end": null,
"cds_length": 5538,
"cds_start": 5270,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "NM_053026.4",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5270C>T",
"hgvs_p": "p.Ala1757Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444254.3",
"strand": false,
"transcript": "NM_053026.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1845,
"aa_ref": "A",
"aa_start": 1757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7398,
"cdna_start": 5564,
"cds_end": null,
"cds_length": 5538,
"cds_start": 5270,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 32,
"exon_rank_end": null,
"feature": "ENST00000693689.1",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5270C>T",
"hgvs_p": "p.Ala1757Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510503.1",
"strand": false,
"transcript": "ENST00000693689.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1794,
"aa_ref": "A",
"aa_start": 1706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9753,
"cdna_start": 5429,
"cds_end": null,
"cds_length": 5385,
"cds_start": 5117,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 31,
"exon_rank_end": null,
"feature": "NM_053028.4",
"gene_hgnc_id": 7590,
"gene_symbol": "MYLK",
"hgvs_c": "c.5117C>T",
"hgvs_p": "p.Ala1706Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_444256.3",
"strand": false,
"transcript": "NM_053028.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 1794,
"aa_ref": "A",
"aa_start": 1706,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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{
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}
]
}