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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: 6-136558846-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136558846&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 136558846,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001438058.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4018G>A",
"hgvs_p": "p.Val1340Ile",
"transcript": "NM_005923.4",
"protein_id": "NP_005914.1",
"transcript_support_level": null,
"aa_start": 1340,
"aa_end": null,
"aa_length": 1374,
"cds_start": 4018,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359015.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005923.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4018G>A",
"hgvs_p": "p.Val1340Ile",
"transcript": "ENST00000359015.5",
"protein_id": "ENSP00000351908.4",
"transcript_support_level": 1,
"aa_start": 1340,
"aa_end": null,
"aa_length": 1374,
"cds_start": 4018,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005923.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359015.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Val1449Ile",
"transcript": "NM_001438058.1",
"protein_id": "NP_001424987.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1483,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438058.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Val1449Ile",
"transcript": "ENST00000698928.1",
"protein_id": "ENSP00000514039.1",
"transcript_support_level": null,
"aa_start": 1449,
"aa_end": null,
"aa_length": 1483,
"cds_start": 4345,
"cds_end": null,
"cds_length": 4452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698928.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4087G>A",
"hgvs_p": "p.Val1363Ile",
"transcript": "ENST00000954598.1",
"protein_id": "ENSP00000624657.1",
"transcript_support_level": null,
"aa_start": 1363,
"aa_end": null,
"aa_length": 1397,
"cds_start": 4087,
"cds_end": null,
"cds_length": 4194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954598.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4021G>A",
"hgvs_p": "p.Val1341Ile",
"transcript": "ENST00000903035.1",
"protein_id": "ENSP00000573094.1",
"transcript_support_level": null,
"aa_start": 1341,
"aa_end": null,
"aa_length": 1375,
"cds_start": 4021,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903035.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4015G>A",
"hgvs_p": "p.Val1339Ile",
"transcript": "ENST00000954600.1",
"protein_id": "ENSP00000624659.1",
"transcript_support_level": null,
"aa_start": 1339,
"aa_end": null,
"aa_length": 1373,
"cds_start": 4015,
"cds_end": null,
"cds_length": 4122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954600.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3988G>A",
"hgvs_p": "p.Val1330Ile",
"transcript": "ENST00000903036.1",
"protein_id": "ENSP00000573095.1",
"transcript_support_level": null,
"aa_start": 1330,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3988,
"cds_end": null,
"cds_length": 4095,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903036.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3922G>A",
"hgvs_p": "p.Val1308Ile",
"transcript": "ENST00000903037.1",
"protein_id": "ENSP00000573096.1",
"transcript_support_level": null,
"aa_start": 1308,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3922,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903037.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3682G>A",
"hgvs_p": "p.Val1228Ile",
"transcript": "ENST00000903038.1",
"protein_id": "ENSP00000573097.1",
"transcript_support_level": null,
"aa_start": 1228,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3682,
"cds_end": null,
"cds_length": 3789,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903038.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3436G>A",
"hgvs_p": "p.Val1146Ile",
"transcript": "NM_001438579.1",
"protein_id": "NP_001425508.1",
"transcript_support_level": null,
"aa_start": 1146,
"aa_end": null,
"aa_length": 1180,
"cds_start": 3436,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438579.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.2614G>A",
"hgvs_p": "p.Val872Ile",
"transcript": "ENST00000954599.1",
"protein_id": "ENSP00000624658.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 906,
"cds_start": 2614,
"cds_end": null,
"cds_length": 2721,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954599.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4348G>A",
"hgvs_p": "p.Val1450Ile",
"transcript": "XM_017010872.2",
"protein_id": "XP_016866361.1",
"transcript_support_level": null,
"aa_start": 1450,
"aa_end": null,
"aa_length": 1484,
"cds_start": 4348,
"cds_end": null,
"cds_length": 4455,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010872.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4240G>A",
"hgvs_p": "p.Val1414Ile",
"transcript": "XM_047418784.1",
"protein_id": "XP_047274740.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 1448,
"cds_start": 4240,
"cds_end": null,
"cds_length": 4347,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418784.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.4237G>A",
"hgvs_p": "p.Val1413Ile",
"transcript": "XM_017010875.2",
"protein_id": "XP_016866364.1",
"transcript_support_level": null,
"aa_start": 1413,
"aa_end": null,
"aa_length": 1447,
"cds_start": 4237,
"cds_end": null,
"cds_length": 4344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010875.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3439G>A",
"hgvs_p": "p.Val1147Ile",
"transcript": "XM_017010877.2",
"protein_id": "XP_016866366.1",
"transcript_support_level": null,
"aa_start": 1147,
"aa_end": null,
"aa_length": 1181,
"cds_start": 3439,
"cds_end": null,
"cds_length": 3546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010877.2"
}
],
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"dbsnp": "rs890732310",
"frequency_reference_population": 0.000050535677,
"hom_count_reference_population": 0,
"allele_count_reference_population": 81,
"gnomad_exomes_af": 0.0000186129,
"gnomad_genomes_af": 0.00035475,
"gnomad_exomes_ac": 27,
"gnomad_genomes_ac": 54,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.024969011545181274,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.251,
"revel_prediction": "Benign",
"alphamissense_score": 0.0686,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.37,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.312,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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_001438058.1",
"gene_symbol": "MAP3K5",
"hgnc_id": 6857,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.4345G>A",
"hgvs_p": "p.Val1449Ile"
}
],
"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
}