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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: 6-134987715-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=134987715&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 134987715,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006620.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "NM_006620.4",
"protein_id": "NP_006611.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 684,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367837.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006620.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "ENST00000367837.10",
"protein_id": "ENSP00000356811.5",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 684,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2055,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006620.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367837.10"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "ENST00000527578.5",
"protein_id": "ENSP00000436256.1",
"transcript_support_level": 1,
"aa_start": 223,
"aa_end": null,
"aa_length": 520,
"cds_start": 668,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000527578.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "ENST00000949311.1",
"protein_id": "ENSP00000619370.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 690,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2073,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949311.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "ENST00000881131.1",
"protein_id": "ENSP00000551190.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 683,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881131.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "ENST00000919570.1",
"protein_id": "ENSP00000589629.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 682,
"cds_start": 1160,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919570.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "ENST00000949313.1",
"protein_id": "ENSP00000619372.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 661,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949313.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "NM_001145158.2",
"protein_id": "NP_001138630.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 642,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145158.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1034G>A",
"hgvs_p": "p.Arg345Gln",
"transcript": "ENST00000367826.6",
"protein_id": "ENSP00000356800.2",
"transcript_support_level": 2,
"aa_start": 345,
"aa_end": null,
"aa_length": 642,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367826.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.965G>A",
"hgvs_p": "p.Arg322Gln",
"transcript": "ENST00000415177.6",
"protein_id": "ENSP00000389826.2",
"transcript_support_level": 5,
"aa_start": 322,
"aa_end": null,
"aa_length": 619,
"cds_start": 965,
"cds_end": null,
"cds_length": 1860,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000415177.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "ENST00000949312.1",
"protein_id": "ENSP00000619371.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 614,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949312.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.770G>A",
"hgvs_p": "p.Arg257Gln",
"transcript": "ENST00000533274.5",
"protein_id": "ENSP00000434533.1",
"transcript_support_level": 2,
"aa_start": 257,
"aa_end": null,
"aa_length": 554,
"cds_start": 770,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533274.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "NM_001363686.2",
"protein_id": "NP_001350615.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 520,
"cds_start": 668,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363686.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.668G>A",
"hgvs_p": "p.Arg223Gln",
"transcript": "ENST00000529641.5",
"protein_id": "ENSP00000436620.1",
"transcript_support_level": 5,
"aa_start": 223,
"aa_end": null,
"aa_length": 242,
"cds_start": 668,
"cds_end": null,
"cds_length": 729,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529641.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"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.29G>A",
"hgvs_p": "p.Arg10Gln",
"transcript": "ENST00000529169.1",
"protein_id": "ENSP00000436472.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 169,
"cds_start": 29,
"cds_end": null,
"cds_length": 510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529169.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln",
"transcript": "XM_047418093.1",
"protein_id": "XP_047274049.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 602,
"cds_start": 1160,
"cds_end": null,
"cds_length": 1809,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418093.1"
},
{
"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": 8,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "c.1084-905G>A",
"hgvs_p": null,
"transcript": "ENST00000949314.1",
"protein_id": "ENSP00000619373.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 635,
"cds_start": null,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949314.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "n.*351G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526100.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"hgvs_c": "n.*351G>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": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000526100.5"
}
],
"gene_symbol": "HBS1L",
"gene_hgnc_id": 4834,
"dbsnp": "rs1466382282",
"frequency_reference_population": 0.0000018635693,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 6.86035e-7,
"gnomad_genomes_af": 0.0000131439,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.904513418674469,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.762,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7066,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.876,
"phylop100way_prediction": "Pathogenic",
"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": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_006620.4",
"gene_symbol": "HBS1L",
"hgnc_id": 4834,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1160G>A",
"hgvs_p": "p.Arg387Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}