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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-153798074-CAG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153798074&ref=CAG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153798074,
"ref": "CAG",
"alt": "C",
"effect": "frameshift_variant",
"transcript": "ENST00000370086.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.358_359delAG",
"hgvs_p": "p.Arg120fs",
"transcript": "NM_006280.3",
"protein_id": "NP_006271.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 173,
"cds_start": 358,
"cds_end": null,
"cds_length": 522,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 608,
"mane_select": "ENST00000370086.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.358_359delAG",
"hgvs_p": "p.Arg120fs",
"transcript": "ENST00000370086.8",
"protein_id": "ENSP00000359103.3",
"transcript_support_level": 1,
"aa_start": 120,
"aa_end": null,
"aa_length": 173,
"cds_start": 358,
"cds_end": null,
"cds_length": 522,
"cdna_start": 378,
"cdna_end": null,
"cdna_length": 608,
"mane_select": "NM_006280.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.439_440delAG",
"hgvs_p": "p.Arg147fs",
"transcript": "NM_001440795.1",
"protein_id": "NP_001427724.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 200,
"cds_start": 439,
"cds_end": null,
"cds_length": 603,
"cdna_start": 605,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.391_392delAG",
"hgvs_p": "p.Arg131fs",
"transcript": "NM_001204526.2",
"protein_id": "NP_001191455.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 184,
"cds_start": 391,
"cds_end": null,
"cds_length": 555,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.382_383delAG",
"hgvs_p": "p.Arg128fs",
"transcript": "NM_001204527.2",
"protein_id": "NP_001191456.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 181,
"cds_start": 382,
"cds_end": null,
"cds_length": 546,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.358_359delAG",
"hgvs_p": "p.Arg120fs",
"transcript": "NM_001440796.1",
"protein_id": "NP_001427725.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 173,
"cds_start": 358,
"cds_end": null,
"cds_length": 522,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.358_359delAG",
"hgvs_p": "p.Arg120fs",
"transcript": "ENST00000320857.7",
"protein_id": "ENSP00000317331.3",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 173,
"cds_start": 358,
"cds_end": null,
"cds_length": 522,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.358_359delAG",
"hgvs_p": "p.Arg120fs",
"transcript": "ENST00000370087.5",
"protein_id": "ENSP00000359104.1",
"transcript_support_level": 3,
"aa_start": 120,
"aa_end": null,
"aa_length": 173,
"cds_start": 358,
"cds_end": null,
"cds_length": 522,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.283_284delAG",
"hgvs_p": "p.Arg95fs",
"transcript": "ENST00000370085.3",
"protein_id": "ENSP00000359102.3",
"transcript_support_level": 2,
"aa_start": 95,
"aa_end": null,
"aa_length": 148,
"cds_start": 283,
"cds_end": null,
"cds_length": 447,
"cdna_start": 297,
"cdna_end": null,
"cdna_length": 526,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.198_199delAG",
"hgvs_p": null,
"transcript": "ENST00000447375.1",
"protein_id": null,
"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": 427,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.2066_2067delAG",
"hgvs_p": null,
"transcript": "ENST00000460616.5",
"protein_id": null,
"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": 2482,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.561_562delAG",
"hgvs_p": null,
"transcript": "ENST00000471880.5",
"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": 785,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.2185_2186delAG",
"hgvs_p": null,
"transcript": "ENST00000482902.5",
"protein_id": null,
"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": 2409,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.473_474delAG",
"hgvs_p": null,
"transcript": "ENST00000485612.5",
"protein_id": null,
"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": 701,
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.430_431delAG",
"hgvs_p": null,
"transcript": "ENST00000486204.5",
"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": 658,
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.703_704delAG",
"hgvs_p": null,
"transcript": "NR_037927.2",
"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": 933,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"dbsnp": "rs794729223",
"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": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 7.926,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.06,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000370086.8",
"gene_symbol": "SSR4",
"hgnc_id": 11326,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "XL",
"hgvs_c": "c.358_359delAG",
"hgvs_p": "p.Arg120fs"
}
],
"clinvar_disease": "SSR4-congenital disorder of glycosylation",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SSR4-congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}