← 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: 6-31411341-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31411341&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31411341,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001177519.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.595G>C",
"hgvs_p": "p.Val199Leu",
"transcript": "NM_001177519.3",
"protein_id": "NP_001170990.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 332,
"cds_start": 595,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000449934.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001177519.3"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.595G>C",
"hgvs_p": "p.Val199Leu",
"transcript": "ENST00000449934.7",
"protein_id": "ENSP00000413079.1",
"transcript_support_level": 1,
"aa_start": 199,
"aa_end": null,
"aa_length": 332,
"cds_start": 595,
"cds_end": null,
"cds_length": 999,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001177519.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449934.7"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.340G>C",
"hgvs_p": "p.Val114Leu",
"transcript": "ENST00000892120.1",
"protein_id": "ENSP00000562179.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 247,
"cds_start": 340,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892120.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Val102Leu",
"transcript": "NM_001289152.2",
"protein_id": "NP_001276081.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 235,
"cds_start": 304,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289152.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Val102Leu",
"transcript": "NM_001289153.2",
"protein_id": "NP_001276082.1",
"transcript_support_level": null,
"aa_start": 102,
"aa_end": null,
"aa_length": 235,
"cds_start": 304,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289153.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.304G>C",
"hgvs_p": "p.Val102Leu",
"transcript": "ENST00000616296.4",
"protein_id": "ENSP00000482382.1",
"transcript_support_level": 5,
"aa_start": 102,
"aa_end": null,
"aa_length": 235,
"cds_start": 304,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616296.4"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.229G>C",
"hgvs_p": "p.Val77Leu",
"transcript": "ENST00000934208.1",
"protein_id": "ENSP00000604267.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 210,
"cds_start": 229,
"cds_end": null,
"cds_length": 633,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934208.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Val61Leu",
"transcript": "NM_001289154.2",
"protein_id": "NP_001276083.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 194,
"cds_start": 181,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001289154.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.181G>C",
"hgvs_p": "p.Val61Leu",
"transcript": "ENST00000674069.1",
"protein_id": "ENSP00000501157.1",
"transcript_support_level": null,
"aa_start": 61,
"aa_end": null,
"aa_length": 194,
"cds_start": 181,
"cds_end": null,
"cds_length": 585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674069.1"
},
{
"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": 5,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "c.286+544G>C",
"hgvs_p": null,
"transcript": "ENST00000421350.1",
"protein_id": "ENSP00000402410.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 223,
"cds_start": null,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"hgvs_c": "n.604G>C",
"hgvs_p": null,
"transcript": "ENST00000673996.1",
"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": "retained_intron",
"feature": "ENST00000673996.1"
},
{
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288587",
"gene_hgnc_id": null,
"hgvs_c": "n.62+10578G>C",
"hgvs_p": null,
"transcript": "ENST00000673857.1",
"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": "ENST00000673857.1"
}
],
"gene_symbol": "MICA",
"gene_hgnc_id": 7090,
"dbsnp": "rs41549718",
"frequency_reference_population": 0.0000063395996,
"hom_count_reference_population": 0,
"allele_count_reference_population": 9,
"gnomad_exomes_af": 0.0000063396,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 9,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06508892774581909,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.1595,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.37,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001177519.3",
"gene_symbol": "MICA",
"hgnc_id": 7090,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.595G>C",
"hgvs_p": "p.Val199Leu"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000673857.1",
"gene_symbol": "ENSG00000288587",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.62+10578G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}