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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: 6-136583695-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=136583695&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 136583695,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001438058.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3271A>G",
"hgvs_p": "p.Ile1091Val",
"transcript": "NM_005923.4",
"protein_id": "NP_005914.1",
"transcript_support_level": null,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3271,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 5157,
"mane_select": "ENST00000359015.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005923.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3271A>G",
"hgvs_p": "p.Ile1091Val",
"transcript": "ENST00000359015.5",
"protein_id": "ENSP00000351908.4",
"transcript_support_level": 1,
"aa_start": 1091,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3271,
"cds_end": null,
"cds_length": 4125,
"cdna_start": 3591,
"cdna_end": null,
"cdna_length": 5157,
"mane_select": "NM_005923.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359015.5"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3598A>G",
"hgvs_p": "p.Ile1200Val",
"transcript": "NM_001438058.1",
"protein_id": "NP_001424987.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1483,
"cds_start": 3598,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 3949,
"cdna_end": null,
"cdna_length": 5515,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438058.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3598A>G",
"hgvs_p": "p.Ile1200Val",
"transcript": "ENST00000698928.1",
"protein_id": "ENSP00000514039.1",
"transcript_support_level": null,
"aa_start": 1200,
"aa_end": null,
"aa_length": 1483,
"cds_start": 3598,
"cds_end": null,
"cds_length": 4452,
"cdna_start": 3955,
"cdna_end": null,
"cdna_length": 5521,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000698928.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3340A>G",
"hgvs_p": "p.Ile1114Val",
"transcript": "ENST00000954598.1",
"protein_id": "ENSP00000624657.1",
"transcript_support_level": null,
"aa_start": 1114,
"aa_end": null,
"aa_length": 1397,
"cds_start": 3340,
"cds_end": null,
"cds_length": 4194,
"cdna_start": 3571,
"cdna_end": null,
"cdna_length": 5135,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954598.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3274A>G",
"hgvs_p": "p.Ile1092Val",
"transcript": "ENST00000903035.1",
"protein_id": "ENSP00000573094.1",
"transcript_support_level": null,
"aa_start": 1092,
"aa_end": null,
"aa_length": 1375,
"cds_start": 3274,
"cds_end": null,
"cds_length": 4128,
"cdna_start": 3437,
"cdna_end": null,
"cdna_length": 5015,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903035.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3268A>G",
"hgvs_p": "p.Ile1090Val",
"transcript": "ENST00000954600.1",
"protein_id": "ENSP00000624659.1",
"transcript_support_level": null,
"aa_start": 1090,
"aa_end": null,
"aa_length": 1373,
"cds_start": 3268,
"cds_end": null,
"cds_length": 4122,
"cdna_start": 3446,
"cdna_end": null,
"cdna_length": 4425,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954600.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3241A>G",
"hgvs_p": "p.Ile1081Val",
"transcript": "ENST00000903036.1",
"protein_id": "ENSP00000573095.1",
"transcript_support_level": null,
"aa_start": 1081,
"aa_end": null,
"aa_length": 1364,
"cds_start": 3241,
"cds_end": null,
"cds_length": 4095,
"cdna_start": 3403,
"cdna_end": null,
"cdna_length": 4969,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903036.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3175A>G",
"hgvs_p": "p.Ile1059Val",
"transcript": "ENST00000903037.1",
"protein_id": "ENSP00000573096.1",
"transcript_support_level": null,
"aa_start": 1059,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3175,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3318,
"cdna_end": null,
"cdna_length": 4883,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903037.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.2935A>G",
"hgvs_p": "p.Ile979Val",
"transcript": "ENST00000903038.1",
"protein_id": "ENSP00000573097.1",
"transcript_support_level": null,
"aa_start": 979,
"aa_end": null,
"aa_length": 1262,
"cds_start": 2935,
"cds_end": null,
"cds_length": 3789,
"cdna_start": 3148,
"cdna_end": null,
"cdna_length": 4146,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903038.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.2689A>G",
"hgvs_p": "p.Ile897Val",
"transcript": "NM_001438579.1",
"protein_id": "NP_001425508.1",
"transcript_support_level": null,
"aa_start": 897,
"aa_end": null,
"aa_length": 1180,
"cds_start": 2689,
"cds_end": null,
"cds_length": 3543,
"cdna_start": 3451,
"cdna_end": null,
"cdna_length": 5017,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001438579.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.1867A>G",
"hgvs_p": "p.Ile623Val",
"transcript": "ENST00000954599.1",
"protein_id": "ENSP00000624658.1",
"transcript_support_level": null,
"aa_start": 623,
"aa_end": null,
"aa_length": 906,
"cds_start": 1867,
"cds_end": null,
"cds_length": 2721,
"cdna_start": 2097,
"cdna_end": null,
"cdna_length": 3661,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954599.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3601A>G",
"hgvs_p": "p.Ile1201Val",
"transcript": "XM_017010872.2",
"protein_id": "XP_016866361.1",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1484,
"cds_start": 3601,
"cds_end": null,
"cds_length": 4455,
"cdna_start": 3952,
"cdna_end": null,
"cdna_length": 5518,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010872.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3493A>G",
"hgvs_p": "p.Ile1165Val",
"transcript": "XM_047418784.1",
"protein_id": "XP_047274740.1",
"transcript_support_level": null,
"aa_start": 1165,
"aa_end": null,
"aa_length": 1448,
"cds_start": 3493,
"cds_end": null,
"cds_length": 4347,
"cdna_start": 3844,
"cdna_end": null,
"cdna_length": 5410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418784.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3490A>G",
"hgvs_p": "p.Ile1164Val",
"transcript": "XM_017010875.2",
"protein_id": "XP_016866364.1",
"transcript_support_level": null,
"aa_start": 1164,
"aa_end": null,
"aa_length": 1447,
"cds_start": 3490,
"cds_end": null,
"cds_length": 4344,
"cdna_start": 3841,
"cdna_end": null,
"cdna_length": 5407,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010875.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 25,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.3601A>G",
"hgvs_p": "p.Ile1201Val",
"transcript": "XM_011535839.4",
"protein_id": "XP_011534141.2",
"transcript_support_level": null,
"aa_start": 1201,
"aa_end": null,
"aa_length": 1286,
"cds_start": 3601,
"cds_end": null,
"cds_length": 3861,
"cdna_start": 3952,
"cdna_end": null,
"cdna_length": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535839.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "c.2692A>G",
"hgvs_p": "p.Ile898Val",
"transcript": "XM_017010877.2",
"protein_id": "XP_016866366.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1181,
"cds_start": 2692,
"cds_end": null,
"cds_length": 3546,
"cdna_start": 3454,
"cdna_end": null,
"cdna_length": 5020,
"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": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"hgvs_c": "n.152A>G",
"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": 365,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000463140.1"
}
],
"gene_symbol": "MAP3K5",
"gene_hgnc_id": 6857,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05688530206680298,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.0584,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.976,
"phylop100way_prediction": "Benign",
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP6_Moderate",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 6,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001438058.1",
"gene_symbol": "MAP3K5",
"hgnc_id": 6857,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3598A>G",
"hgvs_p": "p.Ile1200Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}