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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: 14-34874567-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=34874567&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 34874567,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_013448.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "NM_013448.3",
"protein_id": "NP_038476.2",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1556,
"cds_start": 38,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": "ENST00000360310.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013448.3"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000360310.6",
"protein_id": "ENSP00000353458.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 1556,
"cds_start": 38,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 5729,
"mane_select": "NM_013448.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360310.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000382422.6",
"protein_id": "ENSP00000371859.2",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 1556,
"cds_start": 38,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 366,
"cdna_end": null,
"cdna_length": 5775,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382422.6"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000358716.8",
"protein_id": "ENSP00000351555.4",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 1524,
"cds_start": 38,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 606,
"cdna_end": null,
"cdna_length": 5920,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358716.8"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000934224.1",
"protein_id": "ENSP00000604283.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1556,
"cds_start": 38,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 299,
"cdna_end": null,
"cdna_length": 5709,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934224.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000934221.1",
"protein_id": "ENSP00000604280.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1553,
"cds_start": 38,
"cds_end": null,
"cds_length": 4662,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 6423,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934221.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "NM_182648.2",
"protein_id": "NP_872589.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1524,
"cds_start": 38,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 5633,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182648.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000934225.1",
"protein_id": "ENSP00000604284.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1524,
"cds_start": 38,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 5616,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934225.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000934226.1",
"protein_id": "ENSP00000604285.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1522,
"cds_start": 38,
"cds_end": null,
"cds_length": 4569,
"cdna_start": 89,
"cdna_end": null,
"cdna_length": 5397,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934226.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000934222.1",
"protein_id": "ENSP00000604281.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1463,
"cds_start": 38,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 5450,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934222.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "ENST00000934223.1",
"protein_id": "ENSP00000604282.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1431,
"cds_start": 38,
"cds_end": null,
"cds_length": 4296,
"cdna_start": 319,
"cdna_end": null,
"cdna_length": 5352,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934223.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "XM_024449460.2",
"protein_id": "XP_024305228.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1556,
"cds_start": 38,
"cds_end": null,
"cds_length": 4671,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5998,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449460.2"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "XM_047430887.1",
"protein_id": "XP_047286843.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1524,
"cds_start": 38,
"cds_end": null,
"cds_length": 4575,
"cdna_start": 588,
"cdna_end": null,
"cdna_length": 5902,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430887.1"
},
{
"aa_ref": "K",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr",
"transcript": "XM_047430889.1",
"protein_id": "XP_047286845.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 1463,
"cds_start": 38,
"cds_end": null,
"cds_length": 4392,
"cdna_start": 125,
"cdna_end": null,
"cdna_length": 5256,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047430889.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A-AS1",
"gene_hgnc_id": 55440,
"hgvs_c": "n.225T>G",
"hgvs_p": null,
"transcript": "ENST00000557373.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2117,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000557373.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A-AS1",
"gene_hgnc_id": 55440,
"hgvs_c": "n.377T>G",
"hgvs_p": null,
"transcript": "NR_160776.1",
"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": 2273,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_160776.1"
},
{
"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": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"hgvs_c": "n.588A>C",
"hgvs_p": null,
"transcript": "XR_007063978.1",
"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": 4556,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "XR_007063978.1"
}
],
"gene_symbol": "BAZ1A",
"gene_hgnc_id": 960,
"dbsnp": "rs775641660",
"frequency_reference_population": 0.00001552444,
"hom_count_reference_population": 0,
"allele_count_reference_population": 25,
"gnomad_exomes_af": 0.0000164428,
"gnomad_genomes_af": 0.00000663297,
"gnomad_exomes_ac": 24,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2784538269042969,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.249,
"revel_prediction": "Benign",
"alphamissense_score": 0.2366,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.25,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.928,
"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": -5,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_by_gene": [
{
"score": -5,
"benign_score": 5,
"pathogenic_score": 0,
"criteria": [
"BP4",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_013448.3",
"gene_symbol": "BAZ1A",
"hgnc_id": 960,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.38A>C",
"hgvs_p": "p.Lys13Thr"
},
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NR_160776.1",
"gene_symbol": "BAZ1A-AS1",
"hgnc_id": 55440,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.377T>G",
"hgvs_p": null
}
],
"clinvar_disease": "BAZ1A-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "BAZ1A-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}