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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: 6-135054653-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135054653&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 135054653,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000367837.10",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "NM_006620.4",
"protein_id": "NP_006611.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 684,
"cds_start": 39,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": "ENST00000367837.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "ENST00000367837.10",
"protein_id": "ENSP00000356811.5",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 684,
"cds_start": 39,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": "NM_006620.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "ENST00000367822.9",
"protein_id": "ENSP00000356796.5",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 632,
"cds_start": 39,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2793,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "NM_001145158.2",
"protein_id": "NP_001138630.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 642,
"cds_start": 39,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 6961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "ENST00000367826.6",
"protein_id": "ENSP00000356800.2",
"transcript_support_level": 2,
"aa_start": 13,
"aa_end": null,
"aa_length": 642,
"cds_start": 39,
"cds_end": null,
"cds_length": 1929,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 2703,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "NM_001145207.2",
"protein_id": "NP_001138679.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 632,
"cds_start": 39,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "ENST00000415177.6",
"protein_id": "ENSP00000389826.2",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 619,
"cds_start": 39,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 167,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "ENST00000314674.7",
"protein_id": "ENSP00000323566.3",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 215,
"cds_start": 39,
"cds_end": null,
"cds_length": 648,
"cdna_start": 151,
"cdna_end": null,
"cdna_length": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "ENST00000367820.6",
"protein_id": "ENSP00000356794.2",
"transcript_support_level": 3,
"aa_start": 13,
"aa_end": null,
"aa_length": 147,
"cds_start": 39,
"cds_end": null,
"cds_length": 444,
"cdna_start": 148,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "ENST00000524715.5",
"protein_id": "ENSP00000434855.1",
"transcript_support_level": 4,
"aa_start": 13,
"aa_end": null,
"aa_length": 140,
"cds_start": 39,
"cds_end": null,
"cds_length": 425,
"cdna_start": 165,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "ENST00000525067.1",
"protein_id": "ENSP00000435608.1",
"transcript_support_level": 3,
"aa_start": 13,
"aa_end": null,
"aa_length": 118,
"cds_start": 39,
"cds_end": null,
"cds_length": 357,
"cdna_start": 200,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "XM_047418093.1",
"protein_id": "XP_047274049.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 602,
"cds_start": 39,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 2076,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu",
"transcript": "XM_017010192.2",
"protein_id": "XP_016865681.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 590,
"cds_start": 39,
"cds_end": null,
"cds_length": 1773,
"cdna_start": 170,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.-600T>G",
"hgvs_p": null,
"transcript": "NM_001363686.2",
"protein_id": "NP_001350615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 520,
"cds_start": -4,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"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": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.89-4006T>G",
"hgvs_p": null,
"transcript": "ENST00000529882.5",
"protein_id": "ENSP00000433030.1",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 166,
"cds_start": -4,
"cds_end": null,
"cds_length": 503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LOC124901405",
"gene_hgnc_id": null,
"hgvs_c": "n.-240A>C",
"hgvs_p": null,
"transcript": "XR_007059775.1",
"protein_id": null,
"transcript_support_level": null,
"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": 1726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"dbsnp": "rs112424574",
"frequency_reference_population": 0.0001077924,
"hom_count_reference_population": 2,
"allele_count_reference_population": 174,
"gnomad_exomes_af": 0.0000684053,
"gnomad_genomes_af": 0.000485756,
"gnomad_exomes_ac": 100,
"gnomad_genomes_ac": 74,
"gnomad_exomes_homalt": 1,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06630560755729675,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.363,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2471,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.739,
"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": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000367837.10",
"gene_symbol": "HBS1L",
"hgnc_id": 4834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.39T>G",
"hgvs_p": "p.Asp13Glu"
},
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "XR_007059775.1",
"gene_symbol": "LOC124901405",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.-240A>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}