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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: 13-23730375-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23730375&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23730375,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_005932.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.2115C>G",
"hgvs_p": "p.Phe705Leu",
"transcript": "NM_005932.4",
"protein_id": "NP_005923.3",
"transcript_support_level": null,
"aa_start": 705,
"aa_end": null,
"aa_length": 713,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000382172.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005932.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.2115C>G",
"hgvs_p": "p.Phe705Leu",
"transcript": "ENST00000382172.4",
"protein_id": "ENSP00000371607.3",
"transcript_support_level": 1,
"aa_start": 705,
"aa_end": null,
"aa_length": 713,
"cds_start": 2115,
"cds_end": null,
"cds_length": 2142,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005932.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382172.4"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.2076C>G",
"hgvs_p": "p.Phe692Leu",
"transcript": "ENST00000906723.1",
"protein_id": "ENSP00000576782.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 700,
"cds_start": 2076,
"cds_end": null,
"cds_length": 2103,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906723.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.2037C>G",
"hgvs_p": "p.Phe679Leu",
"transcript": "ENST00000906727.1",
"protein_id": "ENSP00000576786.1",
"transcript_support_level": null,
"aa_start": 679,
"aa_end": null,
"aa_length": 687,
"cds_start": 2037,
"cds_end": null,
"cds_length": 2064,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906727.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.2034C>G",
"hgvs_p": "p.Phe678Leu",
"transcript": "ENST00000906724.1",
"protein_id": "ENSP00000576783.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 686,
"cds_start": 2034,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906724.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.2031C>G",
"hgvs_p": "p.Phe677Leu",
"transcript": "ENST00000906725.1",
"protein_id": "ENSP00000576784.1",
"transcript_support_level": null,
"aa_start": 677,
"aa_end": null,
"aa_length": 685,
"cds_start": 2031,
"cds_end": null,
"cds_length": 2058,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906725.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1995C>G",
"hgvs_p": "p.Phe665Leu",
"transcript": "ENST00000906729.1",
"protein_id": "ENSP00000576788.1",
"transcript_support_level": null,
"aa_start": 665,
"aa_end": null,
"aa_length": 673,
"cds_start": 1995,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906729.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1920C>G",
"hgvs_p": "p.Phe640Leu",
"transcript": "ENST00000906728.1",
"protein_id": "ENSP00000576787.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 648,
"cds_start": 1920,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906728.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1908C>G",
"hgvs_p": "p.Phe636Leu",
"transcript": "ENST00000969551.1",
"protein_id": "ENSP00000639610.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 644,
"cds_start": 1908,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969551.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1881C>G",
"hgvs_p": "p.Phe627Leu",
"transcript": "ENST00000969552.1",
"protein_id": "ENSP00000639611.1",
"transcript_support_level": null,
"aa_start": 627,
"aa_end": null,
"aa_length": 635,
"cds_start": 1881,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000969552.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1830C>G",
"hgvs_p": "p.Phe610Leu",
"transcript": "ENST00000906730.1",
"protein_id": "ENSP00000576789.1",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 618,
"cds_start": 1830,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906730.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1548C>G",
"hgvs_p": "p.Phe516Leu",
"transcript": "ENST00000906726.1",
"protein_id": "ENSP00000576785.1",
"transcript_support_level": null,
"aa_start": 516,
"aa_end": null,
"aa_length": 524,
"cds_start": 1548,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000906726.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1929C>G",
"hgvs_p": "p.Phe643Leu",
"transcript": "XM_011535097.3",
"protein_id": "XP_011533399.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 651,
"cds_start": 1929,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011535097.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "n.308C>G",
"hgvs_p": null,
"transcript": "ENST00000433710.2",
"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": "ENST00000433710.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "n.357C>G",
"hgvs_p": null,
"transcript": "ENST00000464194.3",
"protein_id": null,
"transcript_support_level": 2,
"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": "ENST00000464194.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289332",
"gene_hgnc_id": null,
"hgvs_c": "n.385-4172G>C",
"hgvs_p": null,
"transcript": "ENST00000691844.3",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000691844.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000289332",
"gene_hgnc_id": null,
"hgvs_c": "n.286-4172G>C",
"hgvs_p": null,
"transcript": "ENST00000848854.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000848854.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "LOC105370113",
"gene_hgnc_id": null,
"hgvs_c": "n.651+1098G>C",
"hgvs_p": null,
"transcript": "XR_007063722.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007063722.1"
}
],
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"dbsnp": "rs374412642",
"frequency_reference_population": 0.000011166073,
"hom_count_reference_population": 0,
"allele_count_reference_population": 18,
"gnomad_exomes_af": 0.0000116445,
"gnomad_genomes_af": 0.00000657402,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05688992142677307,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.145,
"revel_prediction": "Benign",
"alphamissense_score": 0.6407,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.651,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_005932.4",
"gene_symbol": "MIPEP",
"hgnc_id": 7104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2115C>G",
"hgvs_p": "p.Phe705Leu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000691844.3",
"gene_symbol": "ENSG00000289332",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.385-4172G>C",
"hgvs_p": null
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007063722.1",
"gene_symbol": "LOC105370113",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.651+1098G>C",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}