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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: 6-136580331-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136580331&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 136580331,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001438058.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3487G>T",
"hgvs_p": "p.Val1163Leu",
"transcript": "NM_005923.4",
"protein_id": "NP_005914.1",
"transcript_support_level": null,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3487,
"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": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3487G>T",
"hgvs_p": "p.Val1163Leu",
"transcript": "ENST00000359015.5",
"protein_id": "ENSP00000351908.4",
"transcript_support_level": 1,
"aa_start": 1163,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3487,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3814G>T",
"hgvs_p": "p.Val1272Leu",
"transcript": "NM_001438058.1",
"protein_id": "NP_001424987.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1483,
"cds_start": 3814,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3814G>T",
"hgvs_p": "p.Val1272Leu",
"transcript": "ENST00000698928.1",
"protein_id": "ENSP00000514039.1",
"transcript_support_level": null,
"aa_start": 1272,
"aa_end": null,
"aa_length": 1483,
"cds_start": 3814,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3556G>T",
"hgvs_p": "p.Val1186Leu",
"transcript": "ENST00000954598.1",
"protein_id": "ENSP00000624657.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3556,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3490G>T",
"hgvs_p": "p.Val1164Leu",
"transcript": "ENST00000903035.1",
"protein_id": "ENSP00000573094.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3490,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3484G>T",
"hgvs_p": "p.Val1162Leu",
"transcript": "ENST00000954600.1",
"protein_id": "ENSP00000624659.1",
"transcript_support_level": null,
"aa_start": 1162,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3484,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3457G>T",
"hgvs_p": "p.Val1153Leu",
"transcript": "ENST00000903036.1",
"protein_id": "ENSP00000573095.1",
"transcript_support_level": null,
"aa_start": 1153,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3457,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3391G>T",
"hgvs_p": "p.Val1131Leu",
"transcript": "ENST00000903037.1",
"protein_id": "ENSP00000573096.1",
"transcript_support_level": null,
"aa_start": 1131,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3391,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3151G>T",
"hgvs_p": "p.Val1051Leu",
"transcript": "ENST00000903038.1",
"protein_id": "ENSP00000573097.1",
"transcript_support_level": null,
"aa_start": 1051,
"aa_end": null,
"aa_length": 1262,
"cds_start": 3151,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.2905G>T",
"hgvs_p": "p.Val969Leu",
"transcript": "NM_001438579.1",
"protein_id": "NP_001425508.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2905,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.2083G>T",
"hgvs_p": "p.Val695Leu",
"transcript": "ENST00000954599.1",
"protein_id": "ENSP00000624658.1",
"transcript_support_level": null,
"aa_start": 695,
"aa_end": null,
"aa_length": 906,
"cds_start": 2083,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3817G>T",
"hgvs_p": "p.Val1273Leu",
"transcript": "XM_017010872.2",
"protein_id": "XP_016866361.1",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3817,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3709G>T",
"hgvs_p": "p.Val1237Leu",
"transcript": "XM_047418784.1",
"protein_id": "XP_047274740.1",
"transcript_support_level": null,
"aa_start": 1237,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3709,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3706G>T",
"hgvs_p": "p.Val1236Leu",
"transcript": "XM_017010875.2",
"protein_id": "XP_016866364.1",
"transcript_support_level": null,
"aa_start": 1236,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3706,
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3817G>T",
"hgvs_p": "p.Val1273Leu",
"transcript": "XM_011535839.4",
"protein_id": "XP_011534141.2",
"transcript_support_level": null,
"aa_start": 1273,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3817,
"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": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.2908G>T",
"hgvs_p": "p.Val970Leu",
"transcript": "XM_017010877.2",
"protein_id": "XP_016866366.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2908,
"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"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "n.*3G>T",
"hgvs_p": null,
"transcript": "ENST00000463140.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "pseudogene",
"feature": "ENST00000463140.1"
}
],
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"dbsnp": "rs756997652",
"frequency_reference_population": 0.000004790891,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000479089,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 7,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7967718243598938,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.627,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9386,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.14,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.503,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": -3,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3,BS2",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 4,
"pathogenic_score": 1,
"criteria": [
"PP3",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001438058.1",
"gene_symbol": "MAP3K5",
"hgnc_id": 6857,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3814G>T",
"hgvs_p": "p.Val1272Leu"
}
],
"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
}