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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-15852419-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=15852419&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 15852419,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000672987.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "NM_001272071.2",
"protein_id": "NP_001259000.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 160,
"cds_start": 106,
"cds_end": null,
"cds_length": 483,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "ENST00000672987.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "ENST00000672987.1",
"protein_id": "ENSP00000500695.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 160,
"cds_start": 106,
"cds_end": null,
"cds_length": 483,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2128,
"mane_select": "NM_001272071.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "ENST00000329235.6",
"protein_id": "ENSP00000328789.2",
"transcript_support_level": 1,
"aa_start": 36,
"aa_end": null,
"aa_length": 157,
"cds_start": 106,
"cds_end": null,
"cds_length": 474,
"cdna_start": 350,
"cdna_end": null,
"cdna_length": 2237,
"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": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "n.94C>T",
"hgvs_p": null,
"transcript": "ENST00000452376.5",
"protein_id": "ENSP00000403498.1",
"transcript_support_level": 1,
"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": 991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.-27C>T",
"hgvs_p": null,
"transcript": "ENST00000545766.7",
"protein_id": "ENSP00000444957.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 116,
"cds_start": -4,
"cds_end": null,
"cds_length": 351,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 860,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "NM_001369007.1",
"protein_id": "NP_001355936.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 160,
"cds_start": 106,
"cds_end": null,
"cds_length": 483,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "NM_001440864.1",
"protein_id": "NP_001427793.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 160,
"cds_start": 106,
"cds_end": null,
"cds_length": 483,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2152,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "ENST00000380291.5",
"protein_id": "ENSP00000369645.1",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 160,
"cds_start": 106,
"cds_end": null,
"cds_length": 483,
"cdna_start": 223,
"cdna_end": null,
"cdna_length": 3492,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "NM_003916.5",
"protein_id": "NP_003907.3",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 157,
"cds_start": 106,
"cds_end": null,
"cds_length": 474,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "NM_001440865.1",
"protein_id": "NP_001427794.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 156,
"cds_start": 106,
"cds_end": null,
"cds_length": 471,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "NM_001368994.1",
"protein_id": "NP_001355923.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "ENST00000450644.2",
"protein_id": "ENSP00000389474.2",
"transcript_support_level": 2,
"aa_start": 36,
"aa_end": null,
"aa_length": 153,
"cds_start": 106,
"cds_end": null,
"cds_length": 462,
"cdna_start": 174,
"cdna_end": null,
"cdna_length": 1925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*",
"transcript": "NM_001369008.1",
"protein_id": "NP_001355937.1",
"transcript_support_level": null,
"aa_start": 36,
"aa_end": null,
"aa_length": 147,
"cds_start": 106,
"cds_end": null,
"cds_length": 444,
"cdna_start": 232,
"cdna_end": null,
"cdna_length": 4018,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "n.106C>T",
"hgvs_p": null,
"transcript": "ENST00000479184.2",
"protein_id": "ENSP00000500850.1",
"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": 1946,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "n.106C>T",
"hgvs_p": null,
"transcript": "ENST00000671830.1",
"protein_id": "ENSP00000500483.1",
"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": 1167,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "n.106C>T",
"hgvs_p": null,
"transcript": "ENST00000672063.1",
"protein_id": "ENSP00000500737.1",
"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": 1047,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "n.106C>T",
"hgvs_p": null,
"transcript": "ENST00000673445.1",
"protein_id": "ENSP00000500798.1",
"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": 1064,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "n.106C>T",
"hgvs_p": null,
"transcript": "ENST00000673591.1",
"protein_id": "ENSP00000500066.1",
"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": 2365,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"transcript": "NR_160932.1",
"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": 2143,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"hgvs_c": "n.232C>T",
"hgvs_p": null,
"transcript": "NR_160933.1",
"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": 2084,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "AP1S2",
"gene_hgnc_id": 560,
"dbsnp": "rs104894739",
"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": 0.843999981880188,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "REVEL",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.844,
"revel_prediction": "Pathogenic",
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.66,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"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": 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": "ENST00000672987.1",
"gene_symbol": "AP1S2",
"hgnc_id": 560,
"effects": [
"stop_gained"
],
"inheritance_mode": "XL",
"hgvs_c": "c.106C>T",
"hgvs_p": "p.Gln36*"
}
],
"clinvar_disease": "Pettigrew syndrome",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "Pettigrew syndrome",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}