← Back to variant description
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: 16-1706450-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1706450&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1706450,
"ref": "C",
"alt": "G",
"effect": "stop_gained",
"transcript": "ENST00000610761.2",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "NM_001318852.2",
"protein_id": "NP_001305781.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1337,
"cds_start": 111,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": "ENST00000610761.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "ENST00000610761.2",
"protein_id": "ENSP00000481780.1",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 1337,
"cds_start": 111,
"cds_end": null,
"cds_length": 4014,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5686,
"mane_select": "NM_001318852.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "ENST00000250894.8",
"protein_id": "ENSP00000250894.4",
"transcript_support_level": 1,
"aa_start": 37,
"aa_end": null,
"aa_length": 1336,
"cds_start": 111,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 5661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "n.72C>G",
"hgvs_p": null,
"transcript": "ENST00000561765.1",
"protein_id": null,
"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": 2374,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "ENST00000673691.1",
"protein_id": "ENSP00000501096.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1344,
"cds_start": 111,
"cds_end": null,
"cds_length": 4035,
"cdna_start": 268,
"cdna_end": null,
"cdna_length": 5685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "NM_015133.5",
"protein_id": "NP_055948.2",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1336,
"cds_start": 111,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "NM_001040439.2",
"protein_id": "NP_001035529.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1330,
"cds_start": 111,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "ENST00000356010.9",
"protein_id": "ENSP00000348290.5",
"transcript_support_level": 5,
"aa_start": 37,
"aa_end": null,
"aa_length": 1330,
"cds_start": 111,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 4456,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "ENST00000685565.1",
"protein_id": "ENSP00000508465.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 230,
"cds_start": 111,
"cds_end": null,
"cds_length": 695,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "XM_011522429.3",
"protein_id": "XP_011520731.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1345,
"cds_start": 111,
"cds_end": null,
"cds_length": 4038,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "XM_011522430.3",
"protein_id": "XP_011520732.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1339,
"cds_start": 111,
"cds_end": null,
"cds_length": 4020,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5692,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "XM_047433812.1",
"protein_id": "XP_047289768.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1336,
"cds_start": 111,
"cds_end": null,
"cds_length": 4011,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5683,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "XM_047433813.1",
"protein_id": "XP_047289769.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1330,
"cds_start": 111,
"cds_end": null,
"cds_length": 3993,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*",
"transcript": "XM_005255190.3",
"protein_id": "XP_005255247.1",
"transcript_support_level": null,
"aa_start": 37,
"aa_end": null,
"aa_length": 1322,
"cds_start": 111,
"cds_end": null,
"cds_length": 3969,
"cdna_start": 256,
"cdna_end": null,
"cdna_length": 5641,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "n.210C>G",
"hgvs_p": null,
"transcript": "ENST00000564098.5",
"protein_id": null,
"transcript_support_level": 2,
"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": 4436,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"hgvs_c": "n.285C>G",
"hgvs_p": null,
"transcript": "ENST00000685674.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "MAPK8IP3",
"gene_hgnc_id": 6884,
"dbsnp": "rs770703007",
"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": 0.5600000023841858,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.56,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.885,
"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": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
"PVS1",
"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000610761.2",
"gene_symbol": "MAPK8IP3",
"hgnc_id": 6884,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.111C>G",
"hgvs_p": "p.Tyr37*"
}
],
"clinvar_disease": " NEDBA,MAPK8IP3-related disorder,Neurodevelopmental disorder with or without variable brain abnormalities",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LP:3",
"phenotype_combined": "MAPK8IP3-related disorder|Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}