← 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: 6-33196540-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33196540&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33196540,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001270401.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Pro296His",
"transcript": "NM_021976.5",
"protein_id": "NP_068811.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 533,
"cds_start": 887,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374680.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021976.5"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Pro296His",
"transcript": "ENST00000374680.4",
"protein_id": "ENSP00000363812.3",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 533,
"cds_start": 887,
"cds_end": null,
"cds_length": 1602,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021976.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374680.4"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Pro296His",
"transcript": "ENST00000374685.8",
"protein_id": "ENSP00000363817.4",
"transcript_support_level": 1,
"aa_start": 296,
"aa_end": null,
"aa_length": 537,
"cds_start": 887,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374685.8"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Pro296His",
"transcript": "NM_001270401.2",
"protein_id": "NP_001257330.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 537,
"cds_start": 887,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001270401.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Pro296His",
"transcript": "ENST00000865272.1",
"protein_id": "ENSP00000535331.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 512,
"cds_start": 887,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865272.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Pro296His",
"transcript": "ENST00000865278.1",
"protein_id": "ENSP00000535337.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 508,
"cds_start": 887,
"cds_end": null,
"cds_length": 1527,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865278.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.719C>A",
"hgvs_p": "p.Pro240His",
"transcript": "ENST00000865276.1",
"protein_id": "ENSP00000535335.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 477,
"cds_start": 719,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865276.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Pro179His",
"transcript": "ENST00000865273.1",
"protein_id": "ENSP00000535332.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 420,
"cds_start": 536,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865273.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.536C>A",
"hgvs_p": "p.Pro179His",
"transcript": "ENST00000865274.1",
"protein_id": "ENSP00000535333.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 416,
"cds_start": 536,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865274.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.482C>A",
"hgvs_p": "p.Pro161His",
"transcript": "ENST00000865277.1",
"protein_id": "ENSP00000535336.1",
"transcript_support_level": null,
"aa_start": 161,
"aa_end": null,
"aa_length": 373,
"cds_start": 482,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865277.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.317C>A",
"hgvs_p": "p.Pro106His",
"transcript": "NM_001291989.2",
"protein_id": "NP_001278918.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 347,
"cds_start": 317,
"cds_end": null,
"cds_length": 1044,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001291989.2"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.599C>A",
"hgvs_p": "p.Pro200His",
"transcript": "XM_005249278.4",
"protein_id": "XP_005249335.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 441,
"cds_start": 599,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005249278.4"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.599C>A",
"hgvs_p": "p.Pro200His",
"transcript": "XM_047419238.1",
"protein_id": "XP_047275194.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 437,
"cds_start": 599,
"cds_end": null,
"cds_length": 1314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419238.1"
},
{
"aa_ref": "P",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.80C>A",
"hgvs_p": "p.Pro27His",
"transcript": "XM_047419239.1",
"protein_id": "XP_047275195.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 268,
"cds_start": 80,
"cds_end": null,
"cds_length": 807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047419239.1"
},
{
"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": 4,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.820+1222C>A",
"hgvs_p": null,
"transcript": "ENST00000865275.1",
"protein_id": "ENSP00000535334.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 357,
"cds_start": null,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865275.1"
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.236-1490C>A",
"hgvs_p": null,
"transcript": "ENST00000912952.1",
"protein_id": "ENSP00000583011.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": null,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912952.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"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": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "n.575C>A",
"hgvs_p": null,
"transcript": "ENST00000481441.1",
"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": "ENST00000481441.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "n.*399C>A",
"hgvs_p": null,
"transcript": "ENST00000483281.5",
"protein_id": "ENSP00000431369.1",
"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": "ENST00000483281.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "n.*399C>A",
"hgvs_p": null,
"transcript": "ENST00000483281.5",
"protein_id": "ENSP00000431369.1",
"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": "ENST00000483281.5"
}
],
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"dbsnp": "rs1480172612",
"frequency_reference_population": 0.000027282491,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000294398,
"gnomad_genomes_af": 0.00000657255,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.14963167905807495,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.228,
"revel_prediction": "Benign",
"alphamissense_score": 0.1282,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.69,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001270401.2",
"gene_symbol": "RXRB",
"hgnc_id": 10478,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.887C>A",
"hgvs_p": "p.Pro296His"
}
],
"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
}