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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: 2-190205149-TA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=190205149&ref=TA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 190205149,
"ref": "TA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_014362.4",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1128delT",
"hgvs_p": "p.Phe376fs",
"transcript": "NM_014362.4",
"protein_id": "NP_055177.2",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 386,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": "ENST00000359678.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014362.4"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1128delT",
"hgvs_p": "p.Phe376fs",
"transcript": "ENST00000359678.10",
"protein_id": "ENSP00000352706.5",
"transcript_support_level": 1,
"aa_start": 376,
"aa_end": null,
"aa_length": 386,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 2434,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.*77delT",
"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": 2463,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392332.7"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1128delT",
"hgvs_p": "p.Phe376fs",
"transcript": "ENST00000870406.1",
"protein_id": "ENSP00000540465.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 386,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1207,
"cdna_end": null,
"cdna_length": 4346,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870406.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1095delT",
"hgvs_p": "p.Phe365fs",
"transcript": "ENST00000870408.1",
"protein_id": "ENSP00000540467.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 375,
"cds_start": 1095,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1119,
"cdna_end": null,
"cdna_length": 1633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870408.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1041delT",
"hgvs_p": "p.Phe347fs",
"transcript": "ENST00000870410.1",
"protein_id": "ENSP00000540469.1",
"transcript_support_level": null,
"aa_start": 347,
"aa_end": null,
"aa_length": 357,
"cds_start": 1041,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870410.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1008delT",
"hgvs_p": "p.Phe336fs",
"transcript": "ENST00000870407.1",
"protein_id": "ENSP00000540466.1",
"transcript_support_level": null,
"aa_start": 336,
"aa_end": null,
"aa_length": 346,
"cds_start": 1008,
"cds_end": null,
"cds_length": 1041,
"cdna_start": 1097,
"cdna_end": null,
"cdna_length": 2327,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870407.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1005delT",
"hgvs_p": "p.Phe335fs",
"transcript": "ENST00000955587.1",
"protein_id": "ENSP00000625646.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 345,
"cds_start": 1005,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1079,
"cdna_end": null,
"cdna_length": 1312,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955587.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.816delT",
"hgvs_p": "p.Phe272fs",
"transcript": "ENST00000870409.1",
"protein_id": "ENSP00000540468.1",
"transcript_support_level": null,
"aa_start": 272,
"aa_end": null,
"aa_length": 282,
"cds_start": 816,
"cds_end": null,
"cds_length": 849,
"cdna_start": 835,
"cdna_end": null,
"cdna_length": 1345,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870409.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.459delT",
"hgvs_p": "p.Phe153fs",
"transcript": "ENST00000410045.5",
"protein_id": "ENSP00000386274.1",
"transcript_support_level": 3,
"aa_start": 153,
"aa_end": null,
"aa_length": 163,
"cds_start": 459,
"cds_end": null,
"cds_length": 492,
"cdna_start": 719,
"cdna_end": null,
"cdna_length": 854,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410045.5"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.81delT",
"hgvs_p": "p.Phe27fs",
"transcript": "ENST00000399855.2",
"protein_id": "ENSP00000398060.1",
"transcript_support_level": 3,
"aa_start": 27,
"aa_end": null,
"aa_length": 37,
"cds_start": 81,
"cds_end": null,
"cds_length": 114,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 396,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399855.2"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1128delT",
"hgvs_p": "p.Phe376fs",
"transcript": "XM_011510953.3",
"protein_id": "XP_011509255.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 386,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 1423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510953.3"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.1128delT",
"hgvs_p": "p.Phe376fs",
"transcript": "XM_047443905.1",
"protein_id": "XP_047299861.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 386,
"cds_start": 1128,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 15408,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443905.1"
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.630delT",
"hgvs_p": "p.Phe210fs",
"transcript": "XM_011510954.2",
"protein_id": "XP_011509256.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 220,
"cds_start": 630,
"cds_end": null,
"cds_length": 663,
"cdna_start": 828,
"cdna_end": null,
"cdna_length": 2058,
"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": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "c.*77delT",
"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": 2400,
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"hgvs_c": "n.363delT",
"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": 581,
"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": [
"non_coding_transcript_exon_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": "n.1170delT",
"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": 1389,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_922903.3"
}
],
"gene_symbol": "HIBCH",
"gene_hgnc_id": 4908,
"dbsnp": "rs863225062",
"frequency_reference_population": 0.000006570993,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657099,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 2.135,
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PVS1_Moderate,PM2",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PVS1_Moderate",
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014362.4",
"gene_symbol": "HIBCH",
"hgnc_id": 4908,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1128delT",
"hgvs_p": "p.Phe376fs"
}
],
"clinvar_disease": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "3-hydroxyisobutyryl-CoA hydrolase deficiency",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}