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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: 6-33195674-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=33195674&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 33195674,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000374680.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Phe384Phe",
"transcript": "NM_021976.5",
"protein_id": "NP_068811.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 533,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": "ENST00000374680.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Phe384Phe",
"transcript": "ENST00000374680.4",
"protein_id": "ENSP00000363812.3",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 533,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1602,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2885,
"mane_select": "NM_021976.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Phe384Phe",
"transcript": "ENST00000374685.8",
"protein_id": "ENSP00000363817.4",
"transcript_support_level": 1,
"aa_start": 384,
"aa_end": null,
"aa_length": 537,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1290,
"cdna_end": null,
"cdna_length": 2846,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Phe384Phe",
"transcript": "NM_001270401.2",
"protein_id": "NP_001257330.1",
"transcript_support_level": null,
"aa_start": 384,
"aa_end": null,
"aa_length": 537,
"cds_start": 1152,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1341,
"cdna_end": null,
"cdna_length": 2897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.582C>T",
"hgvs_p": "p.Phe194Phe",
"transcript": "NM_001291989.2",
"protein_id": "NP_001278918.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 347,
"cds_start": 582,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2209,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.864C>T",
"hgvs_p": "p.Phe288Phe",
"transcript": "XM_005249278.4",
"protein_id": "XP_005249335.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 441,
"cds_start": 864,
"cds_end": null,
"cds_length": 1326,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2649,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.864C>T",
"hgvs_p": "p.Phe288Phe",
"transcript": "XM_047419238.1",
"protein_id": "XP_047275194.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 437,
"cds_start": 864,
"cds_end": null,
"cds_length": 1314,
"cdna_start": 1093,
"cdna_end": null,
"cdna_length": 2637,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "c.345C>T",
"hgvs_p": "p.Phe115Phe",
"transcript": "XM_047419239.1",
"protein_id": "XP_047275195.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 268,
"cds_start": 345,
"cds_end": null,
"cds_length": 807,
"cdna_start": 1238,
"cdna_end": null,
"cdna_length": 2794,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "n.*664C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "n.*664C>T",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"hgvs_c": "n.*111C>T",
"hgvs_p": null,
"transcript": "ENST00000481441.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RXRB",
"gene_hgnc_id": 10478,
"dbsnp": "rs6531",
"frequency_reference_population": 0.7399221,
"hom_count_reference_population": 444715,
"allele_count_reference_population": 1193009,
"gnomad_exomes_af": 0.736654,
"gnomad_genomes_af": 0.771297,
"gnomad_exomes_ac": 1075707,
"gnomad_genomes_ac": 117302,
"gnomad_exomes_homalt": 399087,
"gnomad_genomes_homalt": 45628,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5299999713897705,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.994,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.06,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BA1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000374680.4",
"gene_symbol": "RXRB",
"hgnc_id": 10478,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1152C>T",
"hgvs_p": "p.Phe384Phe"
}
],
"clinvar_disease": "RXRB-related disorder,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "B:1",
"phenotype_combined": "not provided|RXRB-related disorder",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}