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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: 3-123640522-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=123640522&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 123640522,
"ref": "C",
"alt": "G",
"effect": "intron_variant",
"transcript": "ENST00000360304.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4620-18G>C",
"hgvs_p": null,
"transcript": "NM_053025.4",
"protein_id": "NP_444253.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1914,
"cds_start": -4,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "ENST00000360304.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4620-18G>C",
"hgvs_p": null,
"transcript": "ENST00000360304.8",
"protein_id": "ENSP00000353452.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1914,
"cds_start": -4,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10113,
"mane_select": "NM_053025.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "n.*4199-18G>C",
"hgvs_p": null,
"transcript": "ENST00000464489.5",
"protein_id": "ENSP00000417798.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4650-18G>C",
"hgvs_p": null,
"transcript": "ENST00000687848.1",
"protein_id": "ENSP00000508761.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1924,
"cds_start": -4,
"cds_end": null,
"cds_length": 5775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": 25,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4620-18G>C",
"hgvs_p": null,
"transcript": "ENST00000686761.1",
"protein_id": "ENSP00000508758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1914,
"cds_start": -4,
"cds_end": null,
"cds_length": 5745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 24,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4620-18G>C",
"hgvs_p": null,
"transcript": "ENST00000686406.1",
"protein_id": "ENSP00000509044.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1913,
"cds_start": -4,
"cds_end": null,
"cds_length": 5742,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5783,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 27,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4620-18G>C",
"hgvs_p": null,
"transcript": "NM_053027.4",
"protein_id": "NP_444255.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1863,
"cds_start": -4,
"cds_end": null,
"cds_length": 5592,
"cdna_start": null,
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"cdna_length": 9960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": 28,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4620-18G>C",
"hgvs_p": null,
"transcript": "ENST00000360772.7",
"protein_id": "ENSP00000354004.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1863,
"cds_start": -4,
"cds_end": null,
"cds_length": 5592,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10027,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4413-18G>C",
"hgvs_p": null,
"transcript": "NM_053026.4",
"protein_id": "NP_444254.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1845,
"cds_start": -4,
"cds_end": null,
"cds_length": 5538,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 33,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4413-18G>C",
"hgvs_p": null,
"transcript": "ENST00000693689.1",
"protein_id": "ENSP00000510503.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1845,
"cds_start": -4,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 32,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "c.4413-18G>C",
"hgvs_p": null,
"transcript": "NM_053028.4",
"protein_id": "NP_444256.3",
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},
{
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"consequences": [
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],
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"gene_symbol": "MYLK",
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"transcript": "ENST00000346322.10",
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},
{
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],
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"gene_symbol": "MYLK",
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"hgvs_c": "c.4092-18G>C",
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},
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],
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"gene_symbol": "MYLK",
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"transcript": "ENST00000690457.1",
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},
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],
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},
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],
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"intron_rank": 10,
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"gene_symbol": "MYLK",
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],
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"gene_symbol": "MYLK",
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},
{
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],
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"gene_symbol": "MYLK",
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"hgvs_c": "c.1650-18G>C",
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"transcript": "ENST00000688223.1",
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},
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],
"exon_rank": null,
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"gene_symbol": "MYLK",
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},
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],
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},
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"consequences": [
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],
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"intron_rank": 10,
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"gene_symbol": "MYLK",
"gene_hgnc_id": 7590,
"hgvs_c": "n.2252-18G>C",
"hgvs_p": null,
"transcript": "ENST00000684879.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "MYLK",
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"hgvs_c": "n.*263-18G>C",
"hgvs_p": null,
"transcript": "ENST00000685259.1",
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"transcript_support_level": null,
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},
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"cds_start": -4,
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"feature": null
}
],
"gene_symbol": "MYLK",
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"dbsnp": "rs41305835",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657263,
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"gnomad_genomes_ac": 1,
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"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.8600000143051147,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.86,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.484,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000360304.8",
"gene_symbol": "MYLK",
"hgnc_id": 7590,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4620-18G>C",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000485162.5",
"gene_symbol": "MYLK-AS1",
"hgnc_id": 42440,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.523-3982C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}