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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: 17-45273509-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=45273509&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "MAP3K14",
"hgnc_id": 6853,
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_003954.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.1715,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.23,
"chr": "17",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.122944176197052,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_003954.5",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000344686.8",
"protein_coding": true,
"protein_id": "NP_003945.2",
"strand": false,
"transcript": "NM_003954.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4442,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000344686.8",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003954.5",
"protein_coding": true,
"protein_id": "ENSP00000478552.1",
"strand": false,
"transcript": "ENST00000344686.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4583,
"cdna_start": 1882,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000376926.8",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000482657.1",
"strand": false,
"transcript": "ENST00000376926.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 953,
"aa_ref": "L",
"aa_start": 557,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4457,
"cdna_start": 1756,
"cds_end": null,
"cds_length": 2862,
"cds_start": 1669,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970424.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1669C>T",
"hgvs_p": "p.Leu557Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640483.1",
"strand": false,
"transcript": "ENST00000970424.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3087,
"cdna_start": 1894,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000617331.3",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000480974.3",
"strand": false,
"transcript": "ENST00000617331.3",
"transcript_support_level": 5
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000902452.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572511.1",
"strand": false,
"transcript": "ENST00000902452.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4553,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000902453.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000572512.1",
"strand": false,
"transcript": "ENST00000902453.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4497,
"cdna_start": 1803,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000970425.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640484.1",
"strand": false,
"transcript": "ENST00000970425.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4795,
"cdna_start": 2102,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970426.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640485.1",
"strand": false,
"transcript": "ENST00000970426.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 946,
"aa_ref": "L",
"aa_start": 550,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4440,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2841,
"cds_start": 1648,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000970423.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1648C>T",
"hgvs_p": "p.Leu550Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640482.1",
"strand": false,
"transcript": "ENST00000970423.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 742,
"aa_ref": "L",
"aa_start": 346,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3918,
"cdna_start": 1209,
"cds_end": null,
"cds_length": 2229,
"cds_start": 1036,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000970422.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1036C>T",
"hgvs_p": "p.Leu346Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000640481.1",
"strand": false,
"transcript": "ENST00000970422.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 1732,
"cds_end": null,
"cds_length": 3051,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047436997.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292953.1",
"strand": false,
"transcript": "XM_047436997.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 1016,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4802,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 3051,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_047436998.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292954.1",
"strand": false,
"transcript": "XM_047436998.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 947,
"aa_ref": "L",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4595,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 2844,
"cds_start": 1651,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "XM_011525441.3",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "c.1651C>T",
"hgvs_p": "p.Leu551Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523743.1",
"strand": false,
"transcript": "XM_011525441.3",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3266,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000586644.2",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "n.94C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000586644.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3152,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000592267.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"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": null,
"strand": false,
"transcript": "ENST00000592267.1",
"transcript_support_level": 2
},
{
"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": 3406,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000680632.1",
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"hgvs_c": "n.499C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000505027.1",
"strand": false,
"transcript": "ENST00000680632.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs781104363",
"effect": "missense_variant",
"frequency_reference_population": 6.8585035e-7,
"gene_hgnc_id": 6853,
"gene_symbol": "MAP3K14",
"gnomad_exomes_ac": 1,
"gnomad_exomes_af": 6.8585e-7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": 2.019,
"pos": 45273509,
"ref": "G",
"revel_prediction": "Benign",
"revel_score": 0.056,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_003954.5"
}
]
}