← 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: 13-27254247-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=27254247&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 27254247,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000982.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "NM_000982.4",
"protein_id": "NP_000973.2",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000311549.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000982.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000311549.11",
"protein_id": "ENSP00000346027.4",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000982.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000311549.11"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000939435.1",
"protein_id": "ENSP00000609494.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 180,
"cds_start": 95,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939435.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000939430.1",
"protein_id": "ENSP00000609489.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 166,
"cds_start": 95,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939430.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000939432.1",
"protein_id": "ENSP00000609491.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 166,
"cds_start": 95,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939432.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000272274.9",
"protein_id": "ENSP00000351021.2",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272274.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000319826.8",
"protein_id": "ENSP00000370574.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319826.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000326092.8",
"protein_id": "ENSP00000370569.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326092.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000907071.1",
"protein_id": "ENSP00000577130.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907071.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000907072.1",
"protein_id": "ENSP00000577131.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907072.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000939431.1",
"protein_id": "ENSP00000609490.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939431.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000939434.1",
"protein_id": "ENSP00000609493.1",
"transcript_support_level": null,
"aa_start": 32,
"aa_end": null,
"aa_length": 160,
"cds_start": 95,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939434.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.92G>A",
"hgvs_p": "p.Arg31Gln",
"transcript": "ENST00000939429.1",
"protein_id": "ENSP00000609488.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 159,
"cds_start": 92,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939429.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln",
"transcript": "ENST00000493317.1",
"protein_id": "ENSP00000471695.1",
"transcript_support_level": 2,
"aa_start": 32,
"aa_end": null,
"aa_length": 121,
"cds_start": 95,
"cds_end": null,
"cds_length": 366,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000493317.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "c.67+404G>A",
"hgvs_p": null,
"transcript": "ENST00000939433.1",
"protein_id": "ENSP00000609492.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 111,
"cds_start": null,
"cds_end": null,
"cds_length": 336,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939433.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "n.95G>A",
"hgvs_p": null,
"transcript": "ENST00000461690.5",
"protein_id": "ENSP00000434298.1",
"transcript_support_level": 5,
"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": "ENST00000461690.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "n.107G>A",
"hgvs_p": null,
"transcript": "ENST00000466550.1",
"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": "retained_intron",
"feature": "ENST00000466550.1"
},
{
"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": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "n.331G>A",
"hgvs_p": null,
"transcript": "ENST00000473558.5",
"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": "retained_intron",
"feature": "ENST00000473558.5"
},
{
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "RPL21",
"gene_hgnc_id": 10313,
"hgvs_c": "n.67+404G>A",
"hgvs_p": null,
"transcript": "ENST00000483765.5",
"protein_id": "ENSP00000473246.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000483765.5"
}
],
"gene_symbol": "RPL21",
"gene_hgnc_id": 10313,
"dbsnp": "rs587777527",
"frequency_reference_population": 0.000001381956,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000138196,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5081780552864075,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.419,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3321,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.15,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.932,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.5,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP5",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000982.4",
"gene_symbol": "RPL21",
"hgnc_id": 10313,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.95G>A",
"hgvs_p": "p.Arg32Gln"
}
],
"clinvar_disease": "Hypotrichosis 12",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Hypotrichosis 12",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}