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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: 6-135042106-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=135042106&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 135042106,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000367837.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "NM_006620.4",
"protein_id": "NP_006611.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 684,
"cds_start": 130,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": "ENST00000367837.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "ENST00000367837.10",
"protein_id": "ENSP00000356811.5",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 684,
"cds_start": 130,
"cds_end": null,
"cds_length": 2055,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 7087,
"mane_select": "NM_006620.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "ENST00000367822.9",
"protein_id": "ENSP00000356796.5",
"transcript_support_level": 1,
"aa_start": 44,
"aa_end": null,
"aa_length": 632,
"cds_start": 130,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 323,
"cdna_end": null,
"cdna_length": 2793,
"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_premature_start_codon_gain_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.-509C>T",
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "NM_001145207.2",
"protein_id": "NP_001138679.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 632,
"cds_start": 130,
"cds_end": null,
"cds_length": 1899,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 2723,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "ENST00000415177.6",
"protein_id": "ENSP00000389826.2",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 619,
"cds_start": 130,
"cds_end": null,
"cds_length": 1860,
"cdna_start": 258,
"cdna_end": null,
"cdna_length": 2636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "ENST00000314674.7",
"protein_id": "ENSP00000323566.3",
"transcript_support_level": 5,
"aa_start": 44,
"aa_end": null,
"aa_length": 215,
"cds_start": 130,
"cds_end": null,
"cds_length": 648,
"cdna_start": 242,
"cdna_end": null,
"cdna_length": 980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.175C>T",
"hgvs_p": "p.Arg59Trp",
"transcript": "ENST00000529882.5",
"protein_id": "ENSP00000433030.1",
"transcript_support_level": 4,
"aa_start": 59,
"aa_end": null,
"aa_length": 166,
"cds_start": 175,
"cds_end": null,
"cds_length": 503,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "ENST00000367820.6",
"protein_id": "ENSP00000356794.2",
"transcript_support_level": 3,
"aa_start": 44,
"aa_end": null,
"aa_length": 147,
"cds_start": 130,
"cds_end": null,
"cds_length": 444,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.64C>T",
"hgvs_p": "p.Arg22Trp",
"transcript": "ENST00000524715.5",
"protein_id": "ENSP00000434855.1",
"transcript_support_level": 4,
"aa_start": 22,
"aa_end": null,
"aa_length": 140,
"cds_start": 64,
"cds_end": null,
"cds_length": 425,
"cdna_start": 190,
"cdna_end": null,
"cdna_length": 551,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp",
"transcript": "XM_047418093.1",
"protein_id": "XP_047274049.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 602,
"cds_start": 130,
"cds_end": null,
"cds_length": 1809,
"cdna_start": 261,
"cdna_end": null,
"cdna_length": 2076,
"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": 2,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "n.82C>T",
"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": [
"5_prime_UTR_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.-509C>T",
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.110-2339C>T",
"hgvs_p": null,
"transcript": "NM_001145158.2",
"protein_id": "NP_001138630.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6961,
"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": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.110-2339C>T",
"hgvs_p": null,
"transcript": "ENST00000367826.6",
"protein_id": "ENSP00000356800.2",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 642,
"cds_start": -4,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2703,
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.40+8476C>T",
"hgvs_p": null,
"transcript": "ENST00000533274.5",
"protein_id": "ENSP00000434533.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 554,
"cds_start": -4,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2102,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.44-2339C>T",
"hgvs_p": null,
"transcript": "ENST00000525067.1",
"protein_id": "ENSP00000435608.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 118,
"cds_start": -4,
"cds_end": null,
"cds_length": 357,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 582,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.110-2339C>T",
"hgvs_p": null,
"transcript": "XM_017010192.2",
"protein_id": "XP_016865681.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 590,
"cds_start": -4,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"dbsnp": "rs113665733",
"frequency_reference_population": 0.00044342404,
"hom_count_reference_population": 5,
"allele_count_reference_population": 715,
"gnomad_exomes_af": 0.000240378,
"gnomad_genomes_af": 0.00239074,
"gnomad_exomes_ac": 351,
"gnomad_genomes_ac": 364,
"gnomad_exomes_homalt": 4,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.010869115591049194,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.662,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5829,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.08,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 1.053,
"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": -8,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS2",
"acmg_by_gene": [
{
"score": -8,
"benign_score": 8,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000367837.10",
"gene_symbol": "HBS1L",
"hgnc_id": 4834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.130C>T",
"hgvs_p": "p.Arg44Trp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}