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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: 3-185417660-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=185417660&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 185417660,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000265026.8",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "NM_004721.5",
"protein_id": "NP_004712.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9857,
"mane_select": "ENST00000265026.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "ENST00000265026.8",
"protein_id": "ENSP00000265026.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9857,
"mane_select": "NM_004721.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "ENST00000424227.5",
"protein_id": "ENSP00000399910.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "n.-85-10837G>A",
"hgvs_p": null,
"transcript": "ENST00000433092.5",
"protein_id": "ENSP00000389798.1",
"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": 1460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "n.-85-10837G>A",
"hgvs_p": null,
"transcript": "ENST00000438053.5",
"protein_id": "ENSP00000403561.1",
"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": 2882,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL4P4",
"gene_hgnc_id": 36179,
"hgvs_c": "n.1119C>T",
"hgvs_p": null,
"transcript": "ENST00000422486.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1284,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": null,
"protein_coding": null,
"strand": true,
"consequences": [
"intragenic_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": null,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL4P4",
"gene_hgnc_id": 36179,
"hgvs_c": "n.185417660G>A",
"hgvs_p": null,
"transcript": null,
"protein_id": null,
"transcript_support_level": null,
"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": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "NM_001242314.2",
"protein_id": "NP_001229243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.44-19787G>A",
"hgvs_p": null,
"transcript": "ENST00000443863.5",
"protein_id": "ENSP00000409325.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 822,
"cds_start": -4,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3025,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.39-25785G>A",
"hgvs_p": null,
"transcript": "NM_001242317.2",
"protein_id": "NP_001229246.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9074,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.39-25785G>A",
"hgvs_p": null,
"transcript": "ENST00000446828.5",
"protein_id": "ENSP00000411483.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 759,
"cds_start": -4,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2737,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "ENST00000428617.1",
"protein_id": "ENSP00000405163.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": -4,
"cds_end": null,
"cds_length": 413,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "ENST00000447637.1",
"protein_id": "ENSP00000389495.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 112,
"cds_start": -4,
"cds_end": null,
"cds_length": 339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "XM_011513310.3",
"protein_id": "XP_011511612.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "XM_017007456.2",
"protein_id": "XP_016862945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null,
"transcript": "XM_047449193.1",
"protein_id": "XP_047305149.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 966,
"cds_start": -4,
"cds_end": null,
"cds_length": 2901,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 17493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"hgvs_c": "c.29-19787G>A",
"hgvs_p": null,
"transcript": "XM_017007457.2",
"protein_id": "XP_016862946.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 817,
"cds_start": -4,
"cds_end": null,
"cds_length": 2454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9132,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAP3K13",
"gene_hgnc_id": 6852,
"dbsnp": "rs13099317",
"frequency_reference_population": 0.64771783,
"hom_count_reference_population": 343436,
"allele_count_reference_population": 1043774,
"gnomad_exomes_af": 0.654762,
"gnomad_genomes_af": 0.580009,
"gnomad_exomes_ac": 955695,
"gnomad_genomes_ac": 88079,
"gnomad_exomes_homalt": 316774,
"gnomad_genomes_homalt": 26662,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.6700000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.67,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.513,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000265026.8",
"gene_symbol": "MAP3K13",
"hgnc_id": 6852,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.-85-10837G>A",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000422486.1",
"gene_symbol": "RPL4P4",
"hgnc_id": 36179,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.1119C>T",
"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
}