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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: 5-56923165-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=56923165&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 56923165,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001297598.2",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "NM_001297599.2",
"protein_id": "NP_001284528.1",
"transcript_support_level": null,
"aa_start": 539,
"aa_end": null,
"aa_length": 550,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000381199.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297599.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1616A>G",
"hgvs_p": "p.His539Arg",
"transcript": "ENST00000381199.8",
"protein_id": "ENSP00000370596.3",
"transcript_support_level": 1,
"aa_start": 539,
"aa_end": null,
"aa_length": 550,
"cds_start": 1616,
"cds_end": null,
"cds_length": 1653,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001297599.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381199.8"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.His544Arg",
"transcript": "ENST00000381226.7",
"protein_id": "ENSP00000370624.3",
"transcript_support_level": 1,
"aa_start": 544,
"aa_end": null,
"aa_length": 555,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381226.7"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1613A>G",
"hgvs_p": "p.His538Arg",
"transcript": "ENST00000381213.7",
"protein_id": "ENSP00000370611.3",
"transcript_support_level": 1,
"aa_start": 538,
"aa_end": null,
"aa_length": 549,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381213.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SETD9",
"gene_hgnc_id": 28508,
"hgvs_c": "c.813-2168T>C",
"hgvs_p": null,
"transcript": "ENST00000628593.1",
"protein_id": "ENSP00000486609.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": null,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000628593.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "n.*1299A>G",
"hgvs_p": null,
"transcript": "ENST00000452157.5",
"protein_id": "ENSP00000408076.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000452157.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "n.*1299A>G",
"hgvs_p": null,
"transcript": "ENST00000452157.5",
"protein_id": "ENSP00000408076.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000452157.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.His544Arg",
"transcript": "NM_001297598.2",
"protein_id": "NP_001284527.1",
"transcript_support_level": null,
"aa_start": 544,
"aa_end": null,
"aa_length": 555,
"cds_start": 1631,
"cds_end": null,
"cds_length": 1668,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001297598.2"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1628A>G",
"hgvs_p": "p.His543Arg",
"transcript": "ENST00000861254.1",
"protein_id": "ENSP00000531313.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 554,
"cds_start": 1628,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861254.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1613A>G",
"hgvs_p": "p.His538Arg",
"transcript": "NM_152622.5",
"protein_id": "NP_689835.3",
"transcript_support_level": null,
"aa_start": 538,
"aa_end": null,
"aa_length": 549,
"cds_start": 1613,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152622.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1427A>G",
"hgvs_p": "p.His476Arg",
"transcript": "ENST00000409421.5",
"protein_id": "ENSP00000386584.1",
"transcript_support_level": 2,
"aa_start": 476,
"aa_end": null,
"aa_length": 487,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409421.5"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1664A>G",
"hgvs_p": "p.His555Arg",
"transcript": "XM_011543216.3",
"protein_id": "XP_011541518.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 566,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1701,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543216.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1661A>G",
"hgvs_p": "p.His554Arg",
"transcript": "XM_011543217.3",
"protein_id": "XP_011541519.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 565,
"cds_start": 1661,
"cds_end": null,
"cds_length": 1698,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543217.3"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1535A>G",
"hgvs_p": "p.His512Arg",
"transcript": "XM_047416839.1",
"protein_id": "XP_047272795.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 523,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416839.1"
},
{
"aa_ref": "H",
"aa_alt": "R",
"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": "MIER3",
"gene_hgnc_id": 26678,
"hgvs_c": "c.1535A>G",
"hgvs_p": "p.His512Arg",
"transcript": "XM_047416840.1",
"protein_id": "XP_047272796.1",
"transcript_support_level": null,
"aa_start": 512,
"aa_end": null,
"aa_length": 523,
"cds_start": 1535,
"cds_end": null,
"cds_length": 1572,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047416840.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "SETD9",
"gene_hgnc_id": 28508,
"hgvs_c": "c.813-2168T>C",
"hgvs_p": null,
"transcript": "NM_001171990.3",
"protein_id": "NP_001165461.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 271,
"cds_start": null,
"cds_end": null,
"cds_length": 816,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171990.3"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SETD9",
"gene_hgnc_id": 28508,
"hgvs_c": "n.495-2168T>C",
"hgvs_p": null,
"transcript": "NR_136555.2",
"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": "NR_136555.2"
}
],
"gene_symbol": "MIER3",
"gene_hgnc_id": 26678,
"dbsnp": "rs140602028",
"frequency_reference_population": 0.00001053332,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000752504,
"gnomad_genomes_af": 0.0000394374,
"gnomad_exomes_ac": 11,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7319378852844238,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.459,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1333,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.13,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.598,
"phylop100way_prediction": "Pathogenic",
"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": "BS2",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001297598.2",
"gene_symbol": "MIER3",
"hgnc_id": 26678,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1631A>G",
"hgvs_p": "p.His544Arg"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001171990.3",
"gene_symbol": "SETD9",
"hgnc_id": 28508,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.813-2168T>C",
"hgvs_p": null
}
],
"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
}