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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: 6-32581624-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=32581624&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 32581624,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_002124.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "c.585A>G",
"hgvs_p": "p.Arg195Arg",
"transcript": "NM_002124.4",
"protein_id": "NP_002115.2",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 266,
"cds_start": 585,
"cds_end": null,
"cds_length": 801,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1223,
"mane_select": "ENST00000360004.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002124.4"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "c.585A>G",
"hgvs_p": "p.Arg195Arg",
"transcript": "ENST00000360004.6",
"protein_id": "ENSP00000353099.5",
"transcript_support_level": 6,
"aa_start": 195,
"aa_end": null,
"aa_length": 266,
"cds_start": 585,
"cds_end": null,
"cds_length": 801,
"cdna_start": 691,
"cdna_end": null,
"cdna_length": 1223,
"mane_select": "NM_002124.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360004.6"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "c.663A>G",
"hgvs_p": "p.Arg221Arg",
"transcript": "ENST00000963203.1",
"protein_id": "ENSP00000633262.1",
"transcript_support_level": null,
"aa_start": 221,
"aa_end": null,
"aa_length": 292,
"cds_start": 663,
"cds_end": null,
"cds_length": 879,
"cdna_start": 724,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963203.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "c.585A>G",
"hgvs_p": "p.Arg195Arg",
"transcript": "ENST00000859900.1",
"protein_id": "ENSP00000529959.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 258,
"cds_start": 585,
"cds_end": null,
"cds_length": 777,
"cdna_start": 648,
"cdna_end": null,
"cdna_length": 1162,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859900.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "c.495A>G",
"hgvs_p": "p.Arg165Arg",
"transcript": "ENST00000859898.1",
"protein_id": "ENSP00000529957.1",
"transcript_support_level": null,
"aa_start": 165,
"aa_end": null,
"aa_length": 236,
"cds_start": 495,
"cds_end": null,
"cds_length": 711,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1124,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859898.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "c.585A>G",
"hgvs_p": "p.Arg195Arg",
"transcript": "ENST00000859899.1",
"protein_id": "ENSP00000529958.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 229,
"cds_start": 585,
"cds_end": null,
"cds_length": 690,
"cdna_start": 658,
"cdna_end": null,
"cdna_length": 1085,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859899.1"
},
{
"aa_ref": "R",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "c.432A>G",
"hgvs_p": "p.Arg144Arg",
"transcript": "ENST00000859901.1",
"protein_id": "ENSP00000529960.1",
"transcript_support_level": null,
"aa_start": 144,
"aa_end": null,
"aa_length": 215,
"cds_start": 432,
"cds_end": null,
"cds_length": 648,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 1033,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859901.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "c.370+2485A>G",
"hgvs_p": null,
"transcript": "ENST00000859897.1",
"protein_id": "ENSP00000529956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1403,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859897.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "n.*490A>G",
"hgvs_p": null,
"transcript": "ENST00000696610.1",
"protein_id": "ENSP00000512754.1",
"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": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696610.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "n.508A>G",
"hgvs_p": null,
"transcript": "ENST00000696611.1",
"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": 1902,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000696611.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "n.648A>G",
"hgvs_p": null,
"transcript": "ENST00000696612.1",
"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": 1803,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000696612.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "n.563A>G",
"hgvs_p": null,
"transcript": "ENST00000696613.1",
"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": 813,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000696613.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "n.713A>G",
"hgvs_p": null,
"transcript": "ENST00000696614.1",
"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": 770,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000696614.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"hgvs_c": "n.*490A>G",
"hgvs_p": null,
"transcript": "ENST00000696610.1",
"protein_id": "ENSP00000512754.1",
"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": 2243,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000696610.1"
}
],
"gene_symbol": "HLA-DRB1",
"gene_hgnc_id": 4948,
"dbsnp": "rs701831",
"frequency_reference_population": 0.63737065,
"hom_count_reference_population": 211385,
"allele_count_reference_population": 646675,
"gnomad_exomes_af": 0.642442,
"gnomad_genomes_af": 0.526074,
"gnomad_exomes_ac": 623412,
"gnomad_genomes_ac": 23263,
"gnomad_exomes_homalt": 203236,
"gnomad_genomes_homalt": 8149,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.465,
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_002124.4",
"gene_symbol": "HLA-DRB1",
"hgnc_id": 4948,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "Unknown",
"hgvs_c": "c.585A>G",
"hgvs_p": "p.Arg195Arg"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}