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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: 6-36954773-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=36954773&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 36954773,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_153370.3",
"consequences": [
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "NM_153370.3",
"protein_id": "NP_699201.2",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000373674.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_153370.3"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000373674.4",
"protein_id": "ENSP00000362778.3",
"transcript_support_level": 1,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_153370.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373674.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "NM_001199159.2",
"protein_id": "NP_001186088.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001199159.2"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000611814.4",
"protein_id": "ENSP00000478888.1",
"transcript_support_level": 5,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611814.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000647861.1",
"protein_id": "ENSP00000497550.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647861.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000892903.1",
"protein_id": "ENSP00000562962.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892903.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000892904.1",
"protein_id": "ENSP00000562963.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892904.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000968223.1",
"protein_id": "ENSP00000638282.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968223.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000968224.1",
"protein_id": "ENSP00000638283.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 461,
"cds_start": 13,
"cds_end": null,
"cds_length": 1386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968224.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000968220.1",
"protein_id": "ENSP00000638279.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 420,
"cds_start": 13,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968220.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000968221.1",
"protein_id": "ENSP00000638280.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 389,
"cds_start": 13,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968221.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000968222.1",
"protein_id": "ENSP00000638281.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 389,
"cds_start": 13,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968222.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000892901.1",
"protein_id": "ENSP00000562960.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 270,
"cds_start": 13,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892901.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000892902.1",
"protein_id": "ENSP00000562961.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 270,
"cds_start": 13,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000892902.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "ENST00000968219.1",
"protein_id": "ENSP00000638278.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 270,
"cds_start": 13,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968219.1"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "XM_011514375.4",
"protein_id": "XP_011512677.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 463,
"cds_start": 13,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514375.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "XM_005248917.4",
"protein_id": "XP_005248974.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 270,
"cds_start": 13,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248917.4"
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg",
"transcript": "XM_017010430.3",
"protein_id": "XP_016865919.1",
"transcript_support_level": null,
"aa_start": 5,
"aa_end": null,
"aa_length": 270,
"cds_start": 13,
"cds_end": null,
"cds_length": 813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010430.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305031",
"gene_hgnc_id": null,
"hgvs_c": "n.261-1039A>G",
"hgvs_p": null,
"transcript": "ENST00000807892.1",
"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": "ENST00000807892.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305031",
"gene_hgnc_id": null,
"hgvs_c": "n.119-1039A>G",
"hgvs_p": null,
"transcript": "ENST00000807893.1",
"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": "ENST00000807893.1"
}
],
"gene_symbol": "PI16",
"gene_hgnc_id": 21245,
"dbsnp": "rs762064253",
"frequency_reference_population": 0.000057654037,
"hom_count_reference_population": 0,
"allele_count_reference_population": 93,
"gnomad_exomes_af": 0.0000602396,
"gnomad_genomes_af": 0.0000328437,
"gnomad_exomes_ac": 88,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.031529754400253296,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.047,
"revel_prediction": "Benign",
"alphamissense_score": 0.0505,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.66,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.045,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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_153370.3",
"gene_symbol": "PI16",
"hgnc_id": 21245,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.13T>C",
"hgvs_p": "p.Cys5Arg"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000807892.1",
"gene_symbol": "ENSG00000305031",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.261-1039A>G",
"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
}