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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: 10-16593417-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=16593417&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 16593417,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_012425.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.811C>A",
"hgvs_p": "p.Pro271Thr",
"transcript": "NM_012425.4",
"protein_id": "NP_036557.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 277,
"cds_start": 811,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000345264.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012425.4"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.811C>A",
"hgvs_p": "p.Pro271Thr",
"transcript": "ENST00000345264.10",
"protein_id": "ENSP00000339521.5",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 277,
"cds_start": 811,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012425.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345264.10"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.811C>A",
"hgvs_p": "p.Pro271Thr",
"transcript": "ENST00000377921.7",
"protein_id": "ENSP00000367154.3",
"transcript_support_level": 1,
"aa_start": 271,
"aa_end": null,
"aa_length": 277,
"cds_start": 811,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000377921.7"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.652C>A",
"hgvs_p": "p.Pro218Thr",
"transcript": "ENST00000602389.1",
"protein_id": "ENSP00000473588.1",
"transcript_support_level": 1,
"aa_start": 218,
"aa_end": null,
"aa_length": 224,
"cds_start": 652,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000602389.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "n.851C>A",
"hgvs_p": null,
"transcript": "ENST00000377911.1",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000377911.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.811C>A",
"hgvs_p": "p.Pro271Thr",
"transcript": "ENST00000905315.1",
"protein_id": "ENSP00000575374.1",
"transcript_support_level": null,
"aa_start": 271,
"aa_end": null,
"aa_length": 277,
"cds_start": 811,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905315.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.802C>A",
"hgvs_p": "p.Pro268Thr",
"transcript": "ENST00000949334.1",
"protein_id": "ENSP00000619393.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 274,
"cds_start": 802,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949334.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Pro254Thr",
"transcript": "ENST00000905311.1",
"protein_id": "ENSP00000575371.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 260,
"cds_start": 760,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905311.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.760C>A",
"hgvs_p": "p.Pro254Thr",
"transcript": "ENST00000949333.1",
"protein_id": "ENSP00000619392.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 260,
"cds_start": 760,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949333.1"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.652C>A",
"hgvs_p": "p.Pro218Thr",
"transcript": "NM_152724.3",
"protein_id": "NP_689937.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 224,
"cds_start": 652,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152724.3"
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.373C>A",
"hgvs_p": "p.Pro125Thr",
"transcript": "ENST00000905313.1",
"protein_id": "ENSP00000575372.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 131,
"cds_start": 373,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905313.1"
},
{
"aa_ref": "N",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "c.678C>A",
"hgvs_p": "p.Asn226Lys",
"transcript": "XM_047425617.1",
"protein_id": "XP_047281573.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 277,
"cds_start": 678,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425617.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"hgvs_c": "n.877C>A",
"hgvs_p": null,
"transcript": "ENST00000464074.6",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000464074.6"
}
],
"gene_symbol": "RSU1",
"gene_hgnc_id": 10464,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5123212337493896,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.25,
"revel_prediction": "Benign",
"alphamissense_score": 0.1601,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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_012425.4",
"gene_symbol": "RSU1",
"hgnc_id": 10464,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.811C>A",
"hgvs_p": "p.Pro271Thr"
}
],
"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
}