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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-55009267-GC-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=55009267&ref=GC&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALAS2",
"hgnc_id": 397,
"hgvs_c": "c.1676_1677delGCinsCG",
"hgvs_p": "p.Arg559Pro",
"inheritance_mode": "XL",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_000032.5",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"downstream_gene_variant"
],
"gene_symbol": "APEX2",
"hgnc_id": 17889,
"hgvs_c": "c.*1832_*1833delGCinsCG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_014481.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PS1",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "X",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1676,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_000032.5",
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"hgvs_c": "c.1676_1677delGCinsCG",
"hgvs_p": "p.Arg559Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000650242.1",
"protein_coding": true,
"protein_id": "NP_000023.2",
"strand": false,
"transcript": "NM_000032.5",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 587,
"aa_ref": "R",
"aa_start": 559,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1764,
"cds_start": 1676,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000650242.1",
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"hgvs_c": "c.1676_1677delGCinsCG",
"hgvs_p": "p.Arg559Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000032.5",
"protein_coding": true,
"protein_id": "ENSP00000497236.1",
"strand": false,
"transcript": "ENST00000650242.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1637,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001037968.4",
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"hgvs_c": "c.1637_1638delGCinsCG",
"hgvs_p": "p.Arg546Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001033057.1",
"strand": false,
"transcript": "NM_001037968.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 574,
"aa_ref": "R",
"aa_start": 546,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1724,
"cds_end": null,
"cds_length": 1725,
"cds_start": 1637,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000396198.7",
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"hgvs_c": "c.1637_1638delGCinsCG",
"hgvs_p": "p.Arg546Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379501.3",
"strand": false,
"transcript": "ENST00000396198.7",
"transcript_support_level": 5
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 550,
"aa_ref": "R",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1829,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001037967.4",
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"hgvs_c": "c.1565_1566delGCinsCG",
"hgvs_p": "p.Arg522Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001033056.1",
"strand": false,
"transcript": "NM_001037967.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 550,
"aa_ref": "R",
"aa_start": 522,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1795,
"cdna_start": 1617,
"cds_end": null,
"cds_length": 1653,
"cds_start": 1565,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335854.8",
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"hgvs_c": "c.1565_1566delGCinsCG",
"hgvs_p": "p.Arg522Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000337131.4",
"strand": false,
"transcript": "ENST00000335854.8",
"transcript_support_level": 2
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 532,
"aa_ref": "R",
"aa_start": 504,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 1572,
"cds_end": null,
"cds_length": 1599,
"cds_start": 1511,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886484.1",
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"hgvs_c": "c.1511_1512delGCinsCG",
"hgvs_p": "p.Arg504Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556543.1",
"strand": false,
"transcript": "ENST00000886484.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 275,
"aa_ref": "A",
"aa_start": 268,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 959,
"cdna_start": 805,
"cds_end": null,
"cds_length": 828,
"cds_start": 802,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000498636.1",
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"hgvs_c": "c.802_803delGCinsCG",
"hgvs_p": "p.Ala268Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495662.1",
"strand": false,
"transcript": "ENST00000498636.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 518,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": null,
"cds_end": null,
"cds_length": 1557,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014481.4",
"gene_hgnc_id": 17889,
"gene_symbol": "APEX2",
"hgvs_c": "c.*1832_*1833delGCinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000374987.4",
"protein_coding": true,
"protein_id": "NP_055296.2",
"strand": true,
"transcript": "NM_014481.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 518,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3239,
"cdna_start": null,
"cds_end": null,
"cds_length": 1557,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000374987.4",
"gene_hgnc_id": 17889,
"gene_symbol": "APEX2",
"hgvs_c": "c.*1832_*1833delGCinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_014481.4",
"protein_coding": true,
"protein_id": "ENSP00000364126.3",
"strand": true,
"transcript": "ENST00000374987.4",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3124,
"cdna_start": null,
"cds_end": null,
"cds_length": 1410,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000886736.1",
"gene_hgnc_id": 17889,
"gene_symbol": "APEX2",
"hgvs_c": "c.*1832_*1833delGCinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000556795.1",
"strand": true,
"transcript": "ENST00000886736.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 347,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3058,
"cdna_start": null,
"cds_end": null,
"cds_length": 1044,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001271748.2",
"gene_hgnc_id": 17889,
"gene_symbol": "APEX2",
"hgvs_c": "c.*1832_*1833delGCinsCG",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258677.1",
"strand": true,
"transcript": "NM_001271748.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 397,
"gene_symbol": "ALAS2",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -0.048,
"pos": 55009267,
"ref": "GC",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_000032.5"
}
]
}