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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: X-2811338-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=2811338&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 2811338,
"ref": "A",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001141919.2",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.457A>C",
"hgvs_p": "p.Asn153His",
"transcript": "NM_001141919.2",
"protein_id": "NP_001135391.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 195,
"cds_start": 457,
"cds_end": null,
"cds_length": 588,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": "ENST00000644266.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141919.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.457A>C",
"hgvs_p": "p.Asn153His",
"transcript": "ENST00000644266.2",
"protein_id": "ENSP00000494087.1",
"transcript_support_level": null,
"aa_start": 153,
"aa_end": null,
"aa_length": 195,
"cds_start": 457,
"cds_end": null,
"cds_length": 588,
"cdna_start": 692,
"cdna_end": null,
"cdna_length": 2943,
"mane_select": "NM_001141919.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644266.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.412A>C",
"hgvs_p": "p.Asn138His",
"transcript": "ENST00000381174.10",
"protein_id": "ENSP00000370566.5",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 180,
"cds_start": 412,
"cds_end": null,
"cds_length": 543,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2313,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381174.10"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.391A>C",
"hgvs_p": "p.Asn131His",
"transcript": "ENST00000419513.7",
"protein_id": "ENSP00000411004.3",
"transcript_support_level": 1,
"aa_start": 131,
"aa_end": null,
"aa_length": 173,
"cds_start": 391,
"cds_end": null,
"cds_length": 522,
"cdna_start": 618,
"cdna_end": null,
"cdna_length": 816,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419513.7"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.415A>C",
"hgvs_p": "p.Asn139His",
"transcript": "NM_001141920.2",
"protein_id": "NP_001135392.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 181,
"cds_start": 415,
"cds_end": null,
"cds_length": 546,
"cdna_start": 650,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001141920.2"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.412A>C",
"hgvs_p": "p.Asn138His",
"transcript": "NM_175569.3",
"protein_id": "NP_780778.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 180,
"cds_start": 412,
"cds_end": null,
"cds_length": 543,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175569.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.346A>C",
"hgvs_p": "p.Asn116His",
"transcript": "ENST00000509484.3",
"protein_id": "ENSP00000430005.2",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 158,
"cds_start": 346,
"cds_end": null,
"cds_length": 477,
"cdna_start": 573,
"cdna_end": null,
"cdna_length": 771,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509484.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.460A>C",
"hgvs_p": "p.Asn154His",
"transcript": "XM_005274587.5",
"protein_id": "XP_005274644.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 196,
"cds_start": 460,
"cds_end": null,
"cds_length": 591,
"cdna_start": 695,
"cdna_end": null,
"cdna_length": 2946,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274587.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.418A>C",
"hgvs_p": "p.Asn140His",
"transcript": "XM_017029787.3",
"protein_id": "XP_016885276.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 182,
"cds_start": 418,
"cds_end": null,
"cds_length": 549,
"cdna_start": 653,
"cdna_end": null,
"cdna_length": 2904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017029787.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"hgvs_c": "c.377-3026A>C",
"hgvs_p": null,
"transcript": "XM_011545575.4",
"protein_id": "XP_011543877.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": null,
"cds_end": null,
"cds_length": 393,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545575.4"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.282T>G",
"hgvs_p": null,
"transcript": "ENST00000810824.1",
"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": 510,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810824.1"
},
{
"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": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.365T>G",
"hgvs_p": null,
"transcript": "ENST00000810825.1",
"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": 594,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810825.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.522T>G",
"hgvs_p": null,
"transcript": "ENST00000810826.1",
"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": 721,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810826.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.494-1121T>G",
"hgvs_p": null,
"transcript": "ENST00000810817.1",
"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": 1109,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810817.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.322-1121T>G",
"hgvs_p": null,
"transcript": "ENST00000810818.1",
"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": 937,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810818.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.210-426T>G",
"hgvs_p": null,
"transcript": "ENST00000810819.1",
"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": 1520,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810819.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.198-1121T>G",
"hgvs_p": null,
"transcript": "ENST00000810820.1",
"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": 811,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810820.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.344-1121T>G",
"hgvs_p": null,
"transcript": "ENST00000810821.1",
"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": 963,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810821.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000305418",
"gene_hgnc_id": null,
"hgvs_c": "n.329-1121T>G",
"hgvs_p": null,
"transcript": "ENST00000810822.1",
"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": 948,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000810822.1"
}
],
"gene_symbol": "XG",
"gene_hgnc_id": 12806,
"dbsnp": "rs749989792",
"frequency_reference_population": 0.000005821327,
"hom_count_reference_population": 3,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0.00000549464,
"gnomad_genomes_af": 0.00000904969,
"gnomad_exomes_ac": 6,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08741113543510437,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
"alphamissense_score": 0.3037,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.676,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001141919.2",
"gene_symbol": "XG",
"hgnc_id": 12806,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "BG",
"hgvs_c": "c.457A>C",
"hgvs_p": "p.Asn153His"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "ENST00000810824.1",
"gene_symbol": "ENSG00000305418",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.282T>G",
"hgvs_p": null
}
],
"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
}