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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: 4-3493264-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=3493264&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 7,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DOK7",
"hgnc_id": 26594,
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Pro426Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -7,
"transcript": "NM_001301071.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_score": -7,
"allele_count_reference_population": 42,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.91,
"chr": "4",
"clinvar_classification": "Likely benign",
"clinvar_disease": "Congenital myasthenic syndrome 10,Fetal akinesia deformation sequence 1",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.9100000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_173660.5",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Pro426Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340083.6",
"protein_coding": true,
"protein_id": "NP_775931.3",
"strand": true,
"transcript": "NM_173660.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 504,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2566,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1515,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000340083.6",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Pro426Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173660.5",
"protein_coding": true,
"protein_id": "ENSP00000344432.5",
"strand": true,
"transcript": "ENST00000340083.6",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 608,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2554,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001301071.2",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Pro426Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001288000.1",
"strand": true,
"transcript": "NM_001301071.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2122,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1395,
"cds_start": 846,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001363811.2",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.846C>G",
"hgvs_p": "p.Pro282Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350740.1",
"strand": true,
"transcript": "NM_001363811.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 464,
"aa_ref": "P",
"aa_start": 282,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2108,
"cdna_start": 911,
"cds_end": null,
"cds_length": 1395,
"cds_start": 846,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000643608.1",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.846C>G",
"hgvs_p": "p.Pro282Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495701.1",
"strand": true,
"transcript": "ENST00000643608.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 194,
"aa_ref": "P",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 585,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001256896.2",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.348C>G",
"hgvs_p": "p.Pro116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001243825.1",
"strand": true,
"transcript": "NM_001256896.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 194,
"aa_ref": "P",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 1046,
"cds_end": null,
"cds_length": 585,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000515886.5",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.348C>G",
"hgvs_p": "p.Pro116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000492194.1",
"strand": true,
"transcript": "ENST00000515886.5",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 636,
"aa_ref": "P",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 1348,
"cds_end": null,
"cds_length": 1911,
"cds_start": 1278,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011513435.3",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.1278C>G",
"hgvs_p": "p.Pro426Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011511737.1",
"strand": true,
"transcript": "XM_011513435.3",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 498,
"aa_ref": "P",
"aa_start": 288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 864,
"cds_end": null,
"cds_length": 1497,
"cds_start": 864,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047450078.1",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.864C>G",
"hgvs_p": "p.Pro288Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306034.1",
"strand": true,
"transcript": "XM_047450078.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 422,
"aa_ref": "P",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": 1378,
"cds_end": null,
"cds_length": 1269,
"cds_start": 1032,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047450079.1",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.1032C>G",
"hgvs_p": "p.Pro344Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306035.1",
"strand": true,
"transcript": "XM_047450079.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 298,
"aa_ref": "P",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 779,
"cds_end": null,
"cds_length": 897,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047450080.1",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.348C>G",
"hgvs_p": "p.Pro116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306036.1",
"strand": true,
"transcript": "XM_047450080.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 194,
"aa_ref": "P",
"aa_start": 116,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1997,
"cdna_start": 779,
"cds_end": null,
"cds_length": 585,
"cds_start": 348,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_047450081.1",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.348C>G",
"hgvs_p": "p.Pro116Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047306037.1",
"strand": true,
"transcript": "XM_047450081.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2555,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001164673.2",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.*499C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001158145.1",
"strand": true,
"transcript": "NM_001164673.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 255,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2551,
"cdna_start": null,
"cds_end": null,
"cds_length": 768,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000507039.5",
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"hgvs_c": "c.*499C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000423614.1",
"strand": true,
"transcript": "ENST00000507039.5",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs139468087",
"effect": "synonymous_variant",
"frequency_reference_population": 0.000026061769,
"gene_hgnc_id": 26594,
"gene_symbol": "DOK7",
"gnomad_exomes_ac": 40,
"gnomad_exomes_af": 0.0000274121,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.000013128,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Likely benign",
"phenotype_combined": "Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 10",
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.922,
"pos": 3493264,
"ref": "C",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001301071.2"
}
]
}