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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: 12-53482632-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53482632&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53482632,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001193511.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "NM_001193511.2",
"protein_id": "NP_001180440.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 892,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000547488.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193511.2"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "ENST00000547488.6",
"protein_id": "ENSP00000449038.1",
"transcript_support_level": 2,
"aa_start": 724,
"aa_end": null,
"aa_length": 892,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001193511.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547488.6"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Ser691Ile",
"transcript": "ENST00000267079.6",
"protein_id": "ENSP00000267079.2",
"transcript_support_level": 1,
"aa_start": 691,
"aa_end": null,
"aa_length": 859,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000267079.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "n.*901G>T",
"hgvs_p": null,
"transcript": "ENST00000552365.1",
"protein_id": "ENSP00000447889.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000552365.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "n.*901G>T",
"hgvs_p": null,
"transcript": "ENST00000552365.1",
"protein_id": "ENSP00000447889.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000552365.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "ENST00000547035.5",
"protein_id": "ENSP00000448689.1",
"transcript_support_level": 5,
"aa_start": 724,
"aa_end": null,
"aa_length": 892,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000547035.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "ENST00000936896.1",
"protein_id": "ENSP00000606955.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 892,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936896.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "ENST00000948711.1",
"protein_id": "ENSP00000618770.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 892,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948711.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Ser691Ile",
"transcript": "NM_006301.4",
"protein_id": "NP_006292.3",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 859,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006301.4"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "XM_005269138.5",
"protein_id": "XP_005269195.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 892,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005269138.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "XM_006719588.5",
"protein_id": "XP_006719651.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 892,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006719588.5"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "XM_011538725.4",
"protein_id": "XP_011537027.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 892,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2679,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538725.4"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2072G>T",
"hgvs_p": "p.Ser691Ile",
"transcript": "XM_017019956.3",
"protein_id": "XP_016875445.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 859,
"cds_start": 2072,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017019956.3"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile",
"transcript": "XM_047429522.1",
"protein_id": "XP_047285478.1",
"transcript_support_level": null,
"aa_start": 724,
"aa_end": null,
"aa_length": 767,
"cds_start": 2171,
"cds_end": null,
"cds_length": 2304,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429522.1"
},
{
"aa_ref": "S",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "c.1772G>T",
"hgvs_p": "p.Ser591Ile",
"transcript": "XM_047429523.1",
"protein_id": "XP_047285479.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 759,
"cds_start": 1772,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429523.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "n.3572G>T",
"hgvs_p": null,
"transcript": "ENST00000547020.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547020.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"hgvs_c": "n.-45G>T",
"hgvs_p": null,
"transcript": "ENST00000551511.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551511.5"
}
],
"gene_symbol": "MAP3K12",
"gene_hgnc_id": 6851,
"dbsnp": "rs61736611",
"frequency_reference_population": 0.000048949143,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.0000280521,
"gnomad_genomes_af": 0.000249419,
"gnomad_exomes_ac": 41,
"gnomad_genomes_ac": 38,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.056606173515319824,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.029,
"revel_prediction": "Benign",
"alphamissense_score": 0.1251,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.38,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.1,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001193511.2",
"gene_symbol": "MAP3K12",
"hgnc_id": 6851,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2171G>T",
"hgvs_p": "p.Ser724Ile"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}