← 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: 2-71189930-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71189930&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71189930,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_020459.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "NM_020459.1",
"protein_id": "NP_065192.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000244221.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020459.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000244221.9",
"protein_id": "ENSP00000244221.8",
"transcript_support_level": 1,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020459.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000244221.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000890279.1",
"protein_id": "ENSP00000560339.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890279.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000890282.1",
"protein_id": "ENSP00000560341.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890282.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000890284.1",
"protein_id": "ENSP00000560343.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890284.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000890286.1",
"protein_id": "ENSP00000560345.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890286.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000890288.1",
"protein_id": "ENSP00000560347.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890288.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000890290.1",
"protein_id": "ENSP00000560349.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890290.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000890292.1",
"protein_id": "ENSP00000560351.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890292.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000890294.1",
"protein_id": "ENSP00000560353.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890294.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000921244.1",
"protein_id": "ENSP00000591303.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921244.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "ENST00000961014.1",
"protein_id": "ENSP00000631073.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961014.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.293G>A",
"hgvs_p": "p.Arg98Gln",
"transcript": "XM_011532842.4",
"protein_id": "XP_011531144.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 144,
"cds_start": 293,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011532842.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "XM_005264310.5",
"protein_id": "XP_005264367.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264310.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln",
"transcript": "XM_005264311.5",
"protein_id": "XP_005264368.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 123,
"cds_start": 230,
"cds_end": null,
"cds_length": 372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005264311.5"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"hgvs_c": "c.139-1395G>A",
"hgvs_p": null,
"transcript": "ENST00000921243.1",
"protein_id": "ENSP00000591302.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 64,
"cds_start": null,
"cds_end": null,
"cds_length": 195,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921243.1"
}
],
"gene_symbol": "PAIP2B",
"gene_hgnc_id": 29200,
"dbsnp": "rs1219186375",
"frequency_reference_population": 0.0000043654995,
"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000344513,
"gnomad_genomes_af": 0.0000131441,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.623700737953186,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.43,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3212,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0.21,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.303,
"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_020459.1",
"gene_symbol": "PAIP2B",
"hgnc_id": 29200,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Arg77Gln"
}
],
"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
}