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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: 13-23756605-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=23756605&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 23756605,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005932.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Cys",
"transcript": "NM_005932.4",
"protein_id": "NP_005923.3",
"transcript_support_level": null,
"aa_start": 662,
"aa_end": null,
"aa_length": 713,
"cds_start": 1984,
"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": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Cys",
"transcript": "ENST00000382172.4",
"protein_id": "ENSP00000371607.3",
"transcript_support_level": 1,
"aa_start": 662,
"aa_end": null,
"aa_length": 713,
"cds_start": 1984,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1945C>T",
"hgvs_p": "p.Arg649Cys",
"transcript": "ENST00000906723.1",
"protein_id": "ENSP00000576782.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 700,
"cds_start": 1945,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1906C>T",
"hgvs_p": "p.Arg636Cys",
"transcript": "ENST00000906727.1",
"protein_id": "ENSP00000576786.1",
"transcript_support_level": null,
"aa_start": 636,
"aa_end": null,
"aa_length": 687,
"cds_start": 1906,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Arg635Cys",
"transcript": "ENST00000906724.1",
"protein_id": "ENSP00000576783.1",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 686,
"cds_start": 1903,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1900C>T",
"hgvs_p": "p.Arg634Cys",
"transcript": "ENST00000906725.1",
"protein_id": "ENSP00000576784.1",
"transcript_support_level": null,
"aa_start": 634,
"aa_end": null,
"aa_length": 685,
"cds_start": 1900,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1864C>T",
"hgvs_p": "p.Arg622Cys",
"transcript": "ENST00000906729.1",
"protein_id": "ENSP00000576788.1",
"transcript_support_level": null,
"aa_start": 622,
"aa_end": null,
"aa_length": 673,
"cds_start": 1864,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1789C>T",
"hgvs_p": "p.Arg597Cys",
"transcript": "ENST00000906728.1",
"protein_id": "ENSP00000576787.1",
"transcript_support_level": null,
"aa_start": 597,
"aa_end": null,
"aa_length": 648,
"cds_start": 1789,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1777C>T",
"hgvs_p": "p.Arg593Cys",
"transcript": "ENST00000969551.1",
"protein_id": "ENSP00000639610.1",
"transcript_support_level": null,
"aa_start": 593,
"aa_end": null,
"aa_length": 644,
"cds_start": 1777,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1750C>T",
"hgvs_p": "p.Arg584Cys",
"transcript": "ENST00000969552.1",
"protein_id": "ENSP00000639611.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 635,
"cds_start": 1750,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1699C>T",
"hgvs_p": "p.Arg567Cys",
"transcript": "ENST00000906730.1",
"protein_id": "ENSP00000576789.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 618,
"cds_start": 1699,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Arg473Cys",
"transcript": "ENST00000906726.1",
"protein_id": "ENSP00000576785.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 524,
"cds_start": 1417,
"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": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "c.1798C>T",
"hgvs_p": "p.Arg600Cys",
"transcript": "XM_011535097.3",
"protein_id": "XP_011533399.1",
"transcript_support_level": null,
"aa_start": 600,
"aa_end": null,
"aa_length": 651,
"cds_start": 1798,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "n.177C>T",
"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": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"hgvs_c": "n.226C>T",
"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"
}
],
"gene_symbol": "MIPEP",
"gene_hgnc_id": 7104,
"dbsnp": "rs148780512",
"frequency_reference_population": 0.00027522424,
"hom_count_reference_population": 0,
"allele_count_reference_population": 444,
"gnomad_exomes_af": 0.000289546,
"gnomad_genomes_af": 0.000137864,
"gnomad_exomes_ac": 423,
"gnomad_genomes_ac": 21,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.19542592763900757,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.11999999731779099,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.204,
"revel_prediction": "Benign",
"alphamissense_score": 0.1572,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.963,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.12,
"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": "BP4_Moderate,BS1_Supporting",
"acmg_by_gene": [
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS1_Supporting"
],
"verdict": "Likely_benign",
"transcript": "NM_005932.4",
"gene_symbol": "MIPEP",
"hgnc_id": 7104,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1984C>T",
"hgvs_p": "p.Arg662Cys"
}
],
"clinvar_disease": "Inborn genetic diseases,Microcephaly,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Microcephaly|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}