← 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: 11-73468453-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=73468453&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 73468453,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001286050.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "NM_015159.3",
"protein_id": "NP_055974.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 235,
"cds_start": 22,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000356467.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015159.3"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000356467.5",
"protein_id": "ENSP00000348852.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 235,
"cds_start": 22,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015159.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356467.5"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000064778.8",
"protein_id": "ENSP00000064778.4",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 244,
"cds_start": 22,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000064778.8"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000450446.6",
"protein_id": "ENSP00000390501.2",
"transcript_support_level": 1,
"aa_start": 8,
"aa_end": null,
"aa_length": 129,
"cds_start": 22,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450446.6"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000876785.1",
"protein_id": "ENSP00000546844.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 247,
"cds_start": 22,
"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": "ENST00000876785.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "NM_001286050.2",
"protein_id": "NP_001272979.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 244,
"cds_start": 22,
"cds_end": null,
"cds_length": 735,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286050.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000876784.1",
"protein_id": "ENSP00000546843.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 235,
"cds_start": 22,
"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": "ENST00000876784.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000876787.1",
"protein_id": "ENSP00000546846.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 235,
"cds_start": 22,
"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": "ENST00000876787.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000930863.1",
"protein_id": "ENSP00000600922.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 235,
"cds_start": 22,
"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": "ENST00000930863.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "ENST00000876786.1",
"protein_id": "ENSP00000546845.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 193,
"cds_start": 22,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000876786.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "NM_001286051.2",
"protein_id": "NP_001272980.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 129,
"cds_start": 22,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286051.2"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "XM_047426650.1",
"protein_id": "XP_047282606.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 248,
"cds_start": 22,
"cds_end": null,
"cds_length": 747,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047426650.1"
},
{
"aa_ref": "V",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met",
"transcript": "XM_017017415.3",
"protein_id": "XP_016872904.1",
"transcript_support_level": null,
"aa_start": 8,
"aa_end": null,
"aa_length": 193,
"cds_start": 22,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017415.3"
},
{
"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": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "n.40G>A",
"hgvs_p": null,
"transcript": "ENST00000432223.2",
"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": "retained_intron",
"feature": "ENST00000432223.2"
},
{
"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": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"hgvs_c": "n.176-37683G>A",
"hgvs_p": null,
"transcript": "ENST00000632101.1",
"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": "ENST00000632101.1"
}
],
"gene_symbol": "FAM168A",
"gene_hgnc_id": 28999,
"dbsnp": "rs562758668",
"frequency_reference_population": 0.000014251299,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000150505,
"gnomad_genomes_af": 0.00000657281,
"gnomad_exomes_ac": 22,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4968143701553345,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.206,
"revel_prediction": "Benign",
"alphamissense_score": 0.3406,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.223,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001286050.2",
"gene_symbol": "FAM168A",
"hgnc_id": 28999,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.22G>A",
"hgvs_p": "p.Val8Met"
}
],
"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
}