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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-153797778-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=153797778&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 153797778,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000370086.8",
"consequences": [
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.317delT",
"hgvs_p": "p.Phe106fs",
"transcript": "NM_006280.3",
"protein_id": "NP_006271.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 173,
"cds_start": 317,
"cds_end": null,
"cds_length": 522,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 608,
"mane_select": "ENST00000370086.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.317delT",
"hgvs_p": "p.Phe106fs",
"transcript": "ENST00000370086.8",
"protein_id": "ENSP00000359103.3",
"transcript_support_level": 1,
"aa_start": 106,
"aa_end": null,
"aa_length": 173,
"cds_start": 317,
"cds_end": null,
"cds_length": 522,
"cdna_start": 337,
"cdna_end": null,
"cdna_length": 608,
"mane_select": "NM_006280.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.398delT",
"hgvs_p": "p.Phe133fs",
"transcript": "NM_001440795.1",
"protein_id": "NP_001427724.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 200,
"cds_start": 398,
"cds_end": null,
"cds_length": 603,
"cdna_start": 564,
"cdna_end": null,
"cdna_length": 835,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.350delT",
"hgvs_p": "p.Phe117fs",
"transcript": "NM_001204526.2",
"protein_id": "NP_001191455.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 184,
"cds_start": 350,
"cds_end": null,
"cds_length": 555,
"cdna_start": 468,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.341delT",
"hgvs_p": "p.Phe114fs",
"transcript": "NM_001204527.2",
"protein_id": "NP_001191456.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 181,
"cds_start": 341,
"cds_end": null,
"cds_length": 546,
"cdna_start": 507,
"cdna_end": null,
"cdna_length": 778,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.317delT",
"hgvs_p": "p.Phe106fs",
"transcript": "NM_001440796.1",
"protein_id": "NP_001427725.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 173,
"cds_start": 317,
"cds_end": null,
"cds_length": 522,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.317delT",
"hgvs_p": "p.Phe106fs",
"transcript": "ENST00000320857.7",
"protein_id": "ENSP00000317331.3",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 173,
"cds_start": 317,
"cds_end": null,
"cds_length": 522,
"cdna_start": 1401,
"cdna_end": null,
"cdna_length": 1671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.317delT",
"hgvs_p": "p.Phe106fs",
"transcript": "ENST00000370087.5",
"protein_id": "ENSP00000359104.1",
"transcript_support_level": 3,
"aa_start": 106,
"aa_end": null,
"aa_length": 173,
"cds_start": 317,
"cds_end": null,
"cds_length": 522,
"cdna_start": 475,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "F",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "c.242delT",
"hgvs_p": "p.Phe81fs",
"transcript": "ENST00000370085.3",
"protein_id": "ENSP00000359102.3",
"transcript_support_level": 2,
"aa_start": 81,
"aa_end": null,
"aa_length": 148,
"cds_start": 242,
"cds_end": null,
"cds_length": 447,
"cdna_start": 256,
"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": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.157delT",
"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": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.2025delT",
"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": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.520delT",
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.2144delT",
"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": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.432delT",
"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": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.389delT",
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SSR4",
"gene_hgnc_id": 11326,
"hgvs_c": "n.662delT",
"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": "rs606231298",
"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": 0.009999999776482582,
"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": 5.559,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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.317delT",
"hgvs_p": "p.Phe106fs"
}
],
"clinvar_disease": "SSR4-congenital disorder of glycosylation",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SSR4-congenital disorder of glycosylation",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}