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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: 6-31356226-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=31356226&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 31356226,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000412585.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly",
"transcript": "NM_005514.8",
"protein_id": "NP_005505.2",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 362,
"cds_start": 560,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": "ENST00000412585.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly",
"transcript": "ENST00000412585.7",
"protein_id": "ENSP00000399168.2",
"transcript_support_level": 6,
"aa_start": 187,
"aa_end": null,
"aa_length": 362,
"cds_start": 560,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 581,
"cdna_end": null,
"cdna_length": 1536,
"mane_select": "NM_005514.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly",
"transcript": "ENST00000696559.1",
"protein_id": "ENSP00000512717.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 362,
"cds_start": 560,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1077,
"cdna_end": null,
"cdna_length": 2032,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly",
"transcript": "ENST00000696560.1",
"protein_id": "ENSP00000512718.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 362,
"cds_start": 560,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 2088,
"cdna_end": null,
"cdna_length": 3043,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly",
"transcript": "ENST00000696561.1",
"protein_id": "ENSP00000512719.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 362,
"cds_start": 560,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1001,
"cdna_end": null,
"cdna_length": 1949,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly",
"transcript": "ENST00000696562.1",
"protein_id": "ENSP00000512720.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 362,
"cds_start": 560,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1993,
"cdna_end": null,
"cdna_length": 2941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "G",
"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": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly",
"transcript": "ENST00000640094.2",
"protein_id": "ENSP00000491275.2",
"transcript_support_level": 6,
"aa_start": 187,
"aa_end": null,
"aa_length": 323,
"cds_start": 560,
"cds_end": null,
"cds_length": 972,
"cdna_start": 560,
"cdna_end": null,
"cdna_length": 972,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "n.718A>G",
"hgvs_p": null,
"transcript": "ENST00000434333.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 863,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "n.2033A>G",
"hgvs_p": null,
"transcript": "ENST00000474381.2",
"protein_id": null,
"transcript_support_level": 6,
"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": 3547,
"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": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "n.2033A>G",
"hgvs_p": null,
"transcript": "ENST00000481849.6",
"protein_id": null,
"transcript_support_level": 6,
"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": 3525,
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "n.2033A>G",
"hgvs_p": null,
"transcript": "ENST00000497377.6",
"protein_id": null,
"transcript_support_level": 6,
"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": 3432,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "n.826A>G",
"hgvs_p": null,
"transcript": "ENST00000498007.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 1087,
"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": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"hgvs_c": "n.560A>G",
"hgvs_p": null,
"transcript": "ENST00000696558.1",
"protein_id": "ENSP00000512716.1",
"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": 1584,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298396",
"gene_hgnc_id": null,
"hgvs_c": "n.58T>C",
"hgvs_p": null,
"transcript": "ENST00000755297.1",
"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": 237,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000298426",
"gene_hgnc_id": null,
"hgvs_c": "n.326+2029T>C",
"hgvs_p": null,
"transcript": "ENST00000755446.1",
"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": 335,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "HLA-B",
"gene_hgnc_id": 4932,
"dbsnp": "rs2308466",
"frequency_reference_population": null,
"hom_count_reference_population": null,
"allele_count_reference_population": null,
"gnomad_exomes_af": 0.0000853934,
"gnomad_genomes_af": 0,
"gnomad_exomes_ac": 87,
"gnomad_genomes_ac": 0,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04632002115249634,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.5199999809265137,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "max_spliceai",
"revel_score": 0.275,
"revel_prediction": "Benign",
"alphamissense_score": 0.2033,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -8.956,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.52,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000412585.7",
"gene_symbol": "HLA-B",
"hgnc_id": 4932,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.560A>G",
"hgvs_p": "p.Glu187Gly"
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000755297.1",
"gene_symbol": "ENSG00000298396",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.58T>C",
"hgvs_p": null
},
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000755446.1",
"gene_symbol": "ENSG00000298426",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.326+2029T>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
}