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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-124346645-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=124346645&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 124346645,
"ref": "G",
"alt": "T",
"effect": "start_lost",
"transcript": "ENST00000371139.9",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_002351.5",
"protein_id": "NP_002342.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 128,
"cds_start": 3,
"cds_end": null,
"cds_length": 387,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": "ENST00000371139.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000371139.9",
"protein_id": "ENSP00000360181.5",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 128,
"cds_start": 3,
"cds_end": null,
"cds_length": 387,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": "NM_002351.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000360027.5",
"protein_id": "ENSP00000353126.4",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 125,
"cds_start": 3,
"cds_end": null,
"cds_length": 378,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000494073.5",
"protein_id": "ENSP00000513589.1",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 62,
"cds_start": 3,
"cds_end": null,
"cds_length": 189,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000698113.1",
"protein_id": "ENSP00000513571.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 128,
"cds_start": 3,
"cds_end": null,
"cds_length": 387,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000698116.1",
"protein_id": "ENSP00000513572.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 128,
"cds_start": 3,
"cds_end": null,
"cds_length": 387,
"cdna_start": 132,
"cdna_end": null,
"cdna_length": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000698118.1",
"protein_id": "ENSP00000513574.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 128,
"cds_start": 3,
"cds_end": null,
"cds_length": 387,
"cdna_start": 38,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "NM_001114937.3",
"protein_id": "NP_001108409.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 125,
"cds_start": 3,
"cds_end": null,
"cds_length": 378,
"cdna_start": 83,
"cdna_end": null,
"cdna_length": 2227,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000477673.2",
"protein_id": "ENSP00000477094.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 76,
"cds_start": 3,
"cds_end": null,
"cds_length": 231,
"cdna_start": 57,
"cdna_end": null,
"cdna_length": 461,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "n.3G>T",
"hgvs_p": null,
"transcript": "ENST00000491950.5",
"protein_id": "ENSP00000513588.1",
"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": 474,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "n.3G>T",
"hgvs_p": null,
"transcript": "ENST00000647259.2",
"protein_id": "ENSP00000494582.1",
"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": 2471,
"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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "n.3G>T",
"hgvs_p": null,
"transcript": "ENST00000698117.1",
"protein_id": "ENSP00000513573.1",
"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": 2202,
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "STAG2",
"gene_hgnc_id": 11355,
"hgvs_c": "n.454-65177G>T",
"hgvs_p": null,
"transcript": "ENST00000469481.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 989,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "n.499-19116G>T",
"hgvs_p": null,
"transcript": "ENST00000635645.1",
"protein_id": null,
"transcript_support_level": 5,
"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": 2554,
"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": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "n.499-19116G>T",
"hgvs_p": null,
"transcript": "ENST00000698112.1",
"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": 2147,
"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": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "n.116+159G>T",
"hgvs_p": null,
"transcript": "ENST00000698114.1",
"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": 1017,
"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": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"hgvs_c": "n.72+159G>T",
"hgvs_p": null,
"transcript": "ENST00000698115.1",
"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": 2083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SH2D1A",
"gene_hgnc_id": 10820,
"dbsnp": "rs111033629",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.992734432220459,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.772,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.58,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.646,
"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": 13,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PS1_Moderate,PM2,PP5",
"acmg_by_gene": [
{
"score": 13,
"benign_score": 0,
"pathogenic_score": 13,
"criteria": [
"PVS1",
"PS1_Moderate",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000371139.9",
"gene_symbol": "SH2D1A",
"hgnc_id": 10820,
"effects": [
"start_lost"
],
"inheritance_mode": "XL",
"hgvs_c": "c.3G>T",
"hgvs_p": "p.Met1?"
},
{
"score": 7,
"benign_score": 0,
"pathogenic_score": 7,
"criteria": [
"PM2",
"PP3_Strong",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000469481.1",
"gene_symbol": "STAG2",
"hgnc_id": 11355,
"effects": [
"intron_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "n.454-65177G>T",
"hgvs_p": null
}
],
"clinvar_disease": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "X-linked lymphoproliferative disease due to SH2D1A deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}