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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: 11-34883385-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=34883385&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 34883385,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_015957.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194His",
"transcript": "NM_015957.4",
"protein_id": "NP_057041.2",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 242,
"cds_start": 581,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000395787.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015957.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194His",
"transcript": "ENST00000395787.4",
"protein_id": "ENSP00000379133.3",
"transcript_support_level": 1,
"aa_start": 194,
"aa_end": null,
"aa_length": 242,
"cds_start": 581,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015957.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395787.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "n.440G>A",
"hgvs_p": null,
"transcript": "ENST00000532428.6",
"protein_id": "ENSP00000474191.1",
"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": "ENST00000532428.6"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194His",
"transcript": "ENST00000901543.1",
"protein_id": "ENSP00000571602.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 242,
"cds_start": 581,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901543.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.578G>A",
"hgvs_p": "p.Arg193His",
"transcript": "ENST00000937716.1",
"protein_id": "ENSP00000607775.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 241,
"cds_start": 578,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937716.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "ENST00000937717.1",
"protein_id": "ENSP00000607776.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 240,
"cds_start": 575,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937717.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "ENST00000937718.1",
"protein_id": "ENSP00000607777.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 240,
"cds_start": 575,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937718.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.575G>A",
"hgvs_p": "p.Arg192His",
"transcript": "ENST00000965076.1",
"protein_id": "ENSP00000635135.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 240,
"cds_start": 575,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965076.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.572G>A",
"hgvs_p": "p.Arg191His",
"transcript": "ENST00000901546.1",
"protein_id": "ENSP00000571605.1",
"transcript_support_level": null,
"aa_start": 191,
"aa_end": null,
"aa_length": 239,
"cds_start": 572,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901546.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "ENST00000901545.1",
"protein_id": "ENSP00000571604.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 221,
"cds_start": 518,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901545.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.518G>A",
"hgvs_p": "p.Arg173His",
"transcript": "ENST00000965075.1",
"protein_id": "ENSP00000635134.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 221,
"cds_start": 518,
"cds_end": null,
"cds_length": 666,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965075.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.431G>A",
"hgvs_p": "p.Arg144His",
"transcript": "ENST00000937719.1",
"protein_id": "ENSP00000607778.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 192,
"cds_start": 431,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937719.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.632G>A",
"hgvs_p": "p.Arg211His",
"transcript": "XM_011520154.4",
"protein_id": "XP_011518456.1",
"transcript_support_level": null,
"aa_start": 211,
"aa_end": null,
"aa_length": 259,
"cds_start": 632,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011520154.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.365G>A",
"hgvs_p": "p.Arg122His",
"transcript": "XM_017017875.3",
"protein_id": "XP_016873364.1",
"transcript_support_level": null,
"aa_start": 122,
"aa_end": null,
"aa_length": 170,
"cds_start": 365,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017017875.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "c.453-569G>A",
"hgvs_p": null,
"transcript": "ENST00000901544.1",
"protein_id": "ENSP00000571603.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 183,
"cds_start": null,
"cds_end": null,
"cds_length": 552,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901544.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"hgvs_c": "n.547G>A",
"hgvs_p": null,
"transcript": "ENST00000527830.1",
"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": "ENST00000527830.1"
}
],
"gene_symbol": "APIP",
"gene_hgnc_id": 17581,
"dbsnp": "rs193139398",
"frequency_reference_population": 0.000010534914,
"hom_count_reference_population": 0,
"allele_count_reference_population": 17,
"gnomad_exomes_af": 0.00000957983,
"gnomad_genomes_af": 0.0000197008,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8820598125457764,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.1899999976158142,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.446,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5994,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.05,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.526,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.19,
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015957.4",
"gene_symbol": "APIP",
"hgnc_id": 17581,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.581G>A",
"hgvs_p": "p.Arg194His"
}
],
"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
}