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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: 5-120686049-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=120686049&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 120686049,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001300783.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.255T>A",
"hgvs_p": "p.Ser85Arg",
"transcript": "NM_001300783.2",
"protein_id": "NP_001287712.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 304,
"cds_start": 255,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000407149.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300783.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.255T>A",
"hgvs_p": "p.Ser85Arg",
"transcript": "ENST00000407149.7",
"protein_id": "ENSP00000385118.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 304,
"cds_start": 255,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001300783.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407149.7"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.186T>A",
"hgvs_p": "p.Ser62Arg",
"transcript": "ENST00000379551.2",
"protein_id": "ENSP00000368869.2",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 281,
"cds_start": 186,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000379551.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.96T>A",
"hgvs_p": "p.Ser32Arg",
"transcript": "ENST00000446965.2",
"protein_id": "ENSP00000405491.2",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 251,
"cds_start": 96,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000446965.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.186T>A",
"hgvs_p": "p.Ser62Arg",
"transcript": "NM_016644.3",
"protein_id": "NP_057728.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 281,
"cds_start": 186,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016644.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.45T>A",
"hgvs_p": "p.Ser15Arg",
"transcript": "NM_001308087.2",
"protein_id": "NP_001295016.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 234,
"cds_start": 45,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308087.2"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.45T>A",
"hgvs_p": "p.Ser15Arg",
"transcript": "NM_001308088.1",
"protein_id": "NP_001295017.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 234,
"cds_start": 45,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308088.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.45T>A",
"hgvs_p": "p.Ser15Arg",
"transcript": "ENST00000505123.5",
"protein_id": "ENSP00000423446.1",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 234,
"cds_start": 45,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505123.5"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.45T>A",
"hgvs_p": "p.Ser15Arg",
"transcript": "ENST00000509923.1",
"protein_id": "ENSP00000421256.1",
"transcript_support_level": 3,
"aa_start": 15,
"aa_end": null,
"aa_length": 141,
"cds_start": 45,
"cds_end": null,
"cds_length": 427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509923.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.255T>A",
"hgvs_p": "p.Ser85Arg",
"transcript": "XM_047417289.1",
"protein_id": "XP_047273245.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 304,
"cds_start": 255,
"cds_end": null,
"cds_length": 915,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417289.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.108T>A",
"hgvs_p": "p.Ser36Arg",
"transcript": "XM_011543452.3",
"protein_id": "XP_011541754.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 255,
"cds_start": 108,
"cds_end": null,
"cds_length": 768,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543452.3"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.45T>A",
"hgvs_p": "p.Ser15Arg",
"transcript": "XM_047417290.1",
"protein_id": "XP_047273246.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 234,
"cds_start": 45,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417290.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.45T>A",
"hgvs_p": "p.Ser15Arg",
"transcript": "XM_047417291.1",
"protein_id": "XP_047273247.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 234,
"cds_start": 45,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417291.1"
},
{
"aa_ref": "S",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"hgvs_c": "c.45T>A",
"hgvs_p": "p.Ser15Arg",
"transcript": "XM_047417292.1",
"protein_id": "XP_047273248.1",
"transcript_support_level": null,
"aa_start": 15,
"aa_end": null,
"aa_length": 234,
"cds_start": 45,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417292.1"
}
],
"gene_symbol": "PRR16",
"gene_hgnc_id": 29654,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.00000136812,
"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": 0.3455592691898346,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.318,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9951,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.382,
"phylop100way_prediction": "Benign",
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001300783.2",
"gene_symbol": "PRR16",
"hgnc_id": 29654,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.255T>A",
"hgvs_p": "p.Ser85Arg"
}
],
"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
}