← 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: 2-190208892-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190208892&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190208892,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014362.4",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Ser",
"transcript": "NM_014362.4",
"protein_id": "NP_055177.2",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 386,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359678.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014362.4"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Ser",
"transcript": "ENST00000359678.10",
"protein_id": "ENSP00000352706.5",
"transcript_support_level": 1,
"aa_start": 345,
"aa_end": null,
"aa_length": 386,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014362.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359678.10"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1012-3660G>A",
"hgvs_p": null,
"transcript": "ENST00000392332.7",
"protein_id": "ENSP00000376144.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392332.7"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Ser",
"transcript": "ENST00000870406.1",
"protein_id": "ENSP00000540465.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 386,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870406.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1000G>A",
"hgvs_p": "p.Gly334Ser",
"transcript": "ENST00000870408.1",
"protein_id": "ENSP00000540467.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 375,
"cds_start": 1000,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870408.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.946G>A",
"hgvs_p": "p.Gly316Ser",
"transcript": "ENST00000870410.1",
"protein_id": "ENSP00000540469.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 357,
"cds_start": 946,
"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": "ENST00000870410.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Gly305Ser",
"transcript": "ENST00000870407.1",
"protein_id": "ENSP00000540466.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 346,
"cds_start": 913,
"cds_end": null,
"cds_length": 1041,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870407.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.910G>A",
"hgvs_p": "p.Gly304Ser",
"transcript": "ENST00000955587.1",
"protein_id": "ENSP00000625646.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 345,
"cds_start": 910,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955587.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Gly241Ser",
"transcript": "ENST00000870409.1",
"protein_id": "ENSP00000540468.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 282,
"cds_start": 721,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870409.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.364G>A",
"hgvs_p": "p.Gly122Ser",
"transcript": "ENST00000410045.5",
"protein_id": "ENSP00000386274.1",
"transcript_support_level": 3,
"aa_start": 122,
"aa_end": null,
"aa_length": 163,
"cds_start": 364,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410045.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.373G>A",
"hgvs_p": "p.Gly125Ser",
"transcript": "ENST00000409820.2",
"protein_id": "ENSP00000387098.2",
"transcript_support_level": 3,
"aa_start": 125,
"aa_end": null,
"aa_length": 127,
"cds_start": 373,
"cds_end": null,
"cds_length": 385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409820.2"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.286G>A",
"hgvs_p": "p.Gly96Ser",
"transcript": "ENST00000416732.5",
"protein_id": "ENSP00000399263.1",
"transcript_support_level": 2,
"aa_start": 96,
"aa_end": null,
"aa_length": 119,
"cds_start": 286,
"cds_end": null,
"cds_length": 360,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000416732.5"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Ser",
"transcript": "XM_011510953.3",
"protein_id": "XP_011509255.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 386,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510953.3"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Ser",
"transcript": "XM_047443905.1",
"protein_id": "XP_047299861.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 386,
"cds_start": 1033,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443905.1"
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.535G>A",
"hgvs_p": "p.Gly179Ser",
"transcript": "XM_011510954.2",
"protein_id": "XP_011509256.1",
"transcript_support_level": null,
"aa_start": 179,
"aa_end": null,
"aa_length": 220,
"cds_start": 535,
"cds_end": null,
"cds_length": 663,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510954.2"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1012-3660G>A",
"hgvs_p": null,
"transcript": "NM_198047.3",
"protein_id": "NP_932164.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 338,
"cds_start": null,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198047.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "n.3176G>A",
"hgvs_p": null,
"transcript": "ENST00000489147.1",
"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": "ENST00000489147.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "n.281-3660G>A",
"hgvs_p": null,
"transcript": "ENST00000486981.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000486981.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "n.1088-3660G>A",
"hgvs_p": null,
"transcript": "XR_922903.3",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_922903.3"
}
],
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"dbsnp": "rs770114459",
"frequency_reference_population": 0.0000041053654,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410537,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9756232500076294,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.20999999344348907,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.799,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9232,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.17,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.912,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.21,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5",
"acmg_by_gene": [
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_014362.4",
"gene_symbol": "HIBCH",
"hgnc_id": 4908,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1033G>A",
"hgvs_p": "p.Gly345Ser"
}
],
"clinvar_disease": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}