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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: 16-62776-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=62776&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 62776,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000262316.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Gln",
"transcript": "NM_022450.5",
"protein_id": "NP_071895.3",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 855,
"cds_start": 794,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": "ENST00000262316.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Gln",
"transcript": "ENST00000262316.10",
"protein_id": "ENSP00000262316.5",
"transcript_support_level": 1,
"aa_start": 265,
"aa_end": null,
"aa_length": 855,
"cds_start": 794,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2992,
"mane_select": "NM_022450.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.1025G>A",
"hgvs_p": "p.Arg342Gln",
"transcript": "XM_047434478.1",
"protein_id": "XP_047290434.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 932,
"cds_start": 1025,
"cds_end": null,
"cds_length": 2799,
"cdna_start": 1567,
"cdna_end": null,
"cdna_length": 3622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Gln",
"transcript": "XM_047434479.1",
"protein_id": "XP_047290435.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 909,
"cds_start": 956,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 1496,
"cdna_end": null,
"cdna_length": 3551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288Gln",
"transcript": "XM_006720921.2",
"protein_id": "XP_006720984.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 878,
"cds_start": 863,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 3061,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288Gln",
"transcript": "XM_017023556.2",
"protein_id": "XP_016879045.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 878,
"cds_start": 863,
"cds_end": null,
"cds_length": 2637,
"cdna_start": 995,
"cdna_end": null,
"cdna_length": 3050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.956G>A",
"hgvs_p": "p.Arg319Gln",
"transcript": "XM_047434480.1",
"protein_id": "XP_047290436.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 855,
"cds_start": 956,
"cds_end": null,
"cds_length": 2568,
"cdna_start": 1495,
"cdna_end": null,
"cdna_length": 3388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288Gln",
"transcript": "XM_047434481.1",
"protein_id": "XP_047290437.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 824,
"cds_start": 863,
"cds_end": null,
"cds_length": 2475,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 2899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Gln",
"transcript": "XM_047434482.1",
"protein_id": "XP_047290438.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 801,
"cds_start": 794,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 937,
"cdna_end": null,
"cdna_length": 2830,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "c.863G>A",
"hgvs_p": "p.Arg288Gln",
"transcript": "XM_017023558.1",
"protein_id": "XP_016879047.1",
"transcript_support_level": null,
"aa_start": 288,
"aa_end": null,
"aa_length": 615,
"cds_start": 863,
"cds_end": null,
"cds_length": 1848,
"cdna_start": 887,
"cdna_end": null,
"cdna_length": 2081,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "n.*108G>A",
"hgvs_p": null,
"transcript": "ENST00000428730.5",
"protein_id": "ENSP00000411508.1",
"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": 2751,
"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": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "n.*108G>A",
"hgvs_p": null,
"transcript": "ENST00000428730.5",
"protein_id": "ENSP00000411508.1",
"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": 2751,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"hgvs_c": "n.*724G>A",
"hgvs_p": null,
"transcript": "ENST00000417043.5",
"protein_id": "ENSP00000412218.1",
"transcript_support_level": 3,
"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": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RHBDF1",
"gene_hgnc_id": 20561,
"dbsnp": "rs138932606",
"frequency_reference_population": 0.000048945018,
"hom_count_reference_population": 0,
"allele_count_reference_population": 79,
"gnomad_exomes_af": 0.000032838,
"gnomad_genomes_af": 0.000203498,
"gnomad_exomes_ac": 48,
"gnomad_genomes_ac": 31,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2584313750267029,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5680000185966492,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.172,
"revel_prediction": "Benign",
"alphamissense_score": 0.0976,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.663,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.914679635145227,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000262316.10",
"gene_symbol": "RHBDF1",
"hgnc_id": 20561,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.794G>A",
"hgvs_p": "p.Arg265Gln"
}
],
"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
}