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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: 6-136792541-C-CCGCCGCGCCG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136792541&ref=C&alt=CCGCCGCGCCG&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 136792541,
"ref": "C",
"alt": "CCGCCGCGCCG",
"effect": "intron_variant",
"transcript": "NM_001438058.1",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.96+94_96+103dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "NM_001438058.1",
"protein_id": "NP_001424987.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.96+103_96+104insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000698928.1",
"protein_id": "ENSP00000514039.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1483,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.96+94_96+103dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "XM_017010872.2",
"protein_id": "XP_016866361.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1484,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.96+94_96+103dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "XM_047418784.1",
"protein_id": "XP_047274740.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1448,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.96+94_96+103dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "XM_017010875.2",
"protein_id": "XP_016866364.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1447,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.96+94_96+103dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "XM_011535839.4",
"protein_id": "XP_011534141.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1286,
"cds_start": null,
"cds_end": null,
"cds_length": 3861,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535839.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.96+94_96+103dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "XM_047418786.1",
"protein_id": "XP_047274742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 813,
"cds_start": null,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418786.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.96+94_96+103dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "XM_047418787.1",
"protein_id": "XP_047274743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 777,
"cds_start": null,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-394_-385dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "NM_005923.4",
"protein_id": "NP_005914.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-385_-384insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000359015.5",
"protein_id": "ENSP00000351908.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1374,
"cds_start": null,
"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": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-385_-384insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000954598.1",
"protein_id": "ENSP00000624657.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1397,
"cds_start": null,
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"cds_length": 4194,
"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954598.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-385_-384insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000903035.1",
"protein_id": "ENSP00000573094.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1375,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903035.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 30,
"intron_rank": null,
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"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-385_-384insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000954600.1",
"protein_id": "ENSP00000624659.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954600.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-385_-384insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000903036.1",
"protein_id": "ENSP00000573095.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903036.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-385_-384insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000903037.1",
"protein_id": "ENSP00000573096.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1342,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903037.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
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"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-385_-384insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000903038.1",
"protein_id": "ENSP00000573097.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000903038.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-836_-827dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "NM_001438579.1",
"protein_id": "NP_001425508.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1180,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438579.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-385_-384insCGGCGCGGCG",
"hgvs_p": null,
"transcript": "ENST00000954599.1",
"protein_id": "ENSP00000624658.1",
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"aa_length": 906,
"cds_start": null,
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"cdna_start": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954599.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.-836_-827dupCGGCGCGGCG",
"hgvs_p": null,
"transcript": "XM_017010877.2",
"protein_id": "XP_016866366.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1181,
"cds_start": null,
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"cds_length": 3546,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010877.2"
}
],
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"dbsnp": "rs5880308",
"frequency_reference_population": 0.00007377896,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.000073779,
"gnomad_exomes_ac": 0,
"gnomad_genomes_ac": 11,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 0,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001438058.1",
"gene_symbol": "MAP3K5",
"hgnc_id": 6857,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.96+94_96+103dupCGGCGCGGCG",
"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
}