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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: 6-134966357-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=134966357&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 134966357,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000367837.10",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.2015C>A",
"hgvs_p": "p.Ser672Tyr",
"transcript": "NM_006620.4",
"protein_id": "NP_006611.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 684,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": "ENST00000367837.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.2015C>A",
"hgvs_p": "p.Ser672Tyr",
"transcript": "ENST00000367837.10",
"protein_id": "ENSP00000356811.5",
"transcript_support_level": 1,
"aa_start": 672,
"aa_end": null,
"aa_length": 684,
"cds_start": 2015,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 2146,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": "NM_006620.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1523C>A",
"hgvs_p": "p.Ser508Tyr",
"transcript": "ENST00000527578.5",
"protein_id": "ENSP00000436256.1",
"transcript_support_level": 1,
"aa_start": 508,
"aa_end": null,
"aa_length": 520,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 1928,
"cdna_end": null,
"cdna_length": 2618,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "n.1534C>A",
"hgvs_p": null,
"transcript": "ENST00000527005.5",
"protein_id": null,
"transcript_support_level": 1,
"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": 2224,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1889C>A",
"hgvs_p": "p.Ser630Tyr",
"transcript": "NM_001145158.2",
"protein_id": "NP_001138630.1",
"transcript_support_level": null,
"aa_start": 630,
"aa_end": null,
"aa_length": 642,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2020,
"cdna_end": null,
"cdna_length": 6961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1889C>A",
"hgvs_p": "p.Ser630Tyr",
"transcript": "ENST00000367826.6",
"protein_id": "ENSP00000356800.2",
"transcript_support_level": 2,
"aa_start": 630,
"aa_end": null,
"aa_length": 642,
"cds_start": 1889,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 2017,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1820C>A",
"hgvs_p": "p.Ser607Tyr",
"transcript": "ENST00000415177.6",
"protein_id": "ENSP00000389826.2",
"transcript_support_level": 5,
"aa_start": 607,
"aa_end": null,
"aa_length": 619,
"cds_start": 1820,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 1948,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1625C>A",
"hgvs_p": "p.Ser542Tyr",
"transcript": "ENST00000533274.5",
"protein_id": "ENSP00000434533.1",
"transcript_support_level": 2,
"aa_start": 542,
"aa_end": null,
"aa_length": 554,
"cds_start": 1625,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 1625,
"cdna_end": null,
"cdna_length": 2102,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1523C>A",
"hgvs_p": "p.Ser508Tyr",
"transcript": "NM_001363686.2",
"protein_id": "NP_001350615.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 520,
"cds_start": 1523,
"cds_end": null,
"cds_length": 1563,
"cdna_start": 2292,
"cdna_end": null,
"cdna_length": 7233,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "n.*1206C>A",
"hgvs_p": null,
"transcript": "ENST00000526100.5",
"protein_id": "ENSP00000433161.1",
"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": 1600,
"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": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "n.*1206C>A",
"hgvs_p": null,
"transcript": "ENST00000526100.5",
"protein_id": "ENSP00000433161.1",
"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": 1600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.*105C>A",
"hgvs_p": null,
"transcript": "XM_047418093.1",
"protein_id": "XP_047274049.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 602,
"cds_start": -4,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"dbsnp": "rs113801496",
"frequency_reference_population": 0.000040325333,
"hom_count_reference_population": 0,
"allele_count_reference_population": 65,
"gnomad_exomes_af": 0.0000226055,
"gnomad_genomes_af": 0.000210432,
"gnomad_exomes_ac": 33,
"gnomad_genomes_ac": 32,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.2598070502281189,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.337,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.06,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 9.293,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": -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": "ENST00000367837.10",
"gene_symbol": "HBS1L",
"hgnc_id": 4834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2015C>A",
"hgvs_p": "p.Ser672Tyr"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}