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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: 2-197402758-AC-TG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197402758&ref=AC&alt=TG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM5",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SF3B1",
"hgnc_id": 10768,
"hgvs_c": "c.1874_1875delGTinsCA",
"hgvs_p": "p.Arg625Pro",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_012433.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM5,PP2,PP3",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "2",
"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": 1304,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 3915,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_012433.4",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1874_1875delGTinsCA",
"hgvs_p": "p.Arg625Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000335508.11",
"protein_coding": true,
"protein_id": "NP_036565.2",
"strand": false,
"transcript": "NM_012433.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1304,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6463,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 3915,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000335508.11",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1874_1875delGTinsCA",
"hgvs_p": "p.Arg625Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_012433.4",
"protein_coding": true,
"protein_id": "ENSP00000335321.6",
"strand": false,
"transcript": "ENST00000335508.11",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1303,
"aa_ref": "R",
"aa_start": 624,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4410,
"cdna_start": 1902,
"cds_end": null,
"cds_length": 3912,
"cds_start": 1871,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929354.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1871_1872delGTinsCA",
"hgvs_p": "p.Arg624Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599413.1",
"strand": false,
"transcript": "ENST00000929354.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1277,
"aa_ref": "R",
"aa_start": 598,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4180,
"cdna_start": 1821,
"cds_end": null,
"cds_length": 3834,
"cds_start": 1793,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929356.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1793_1794delGTinsCA",
"hgvs_p": "p.Arg598Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599415.1",
"strand": false,
"transcript": "ENST00000929356.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1260,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4138,
"cdna_start": 1901,
"cds_end": null,
"cds_length": 3783,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000929355.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1874_1875delGTinsCA",
"hgvs_p": "p.Arg625Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599414.1",
"strand": false,
"transcript": "ENST00000929355.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1247,
"aa_ref": "R",
"aa_start": 568,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 3744,
"cds_start": 1703,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963258.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1703_1704delGTinsCA",
"hgvs_p": "p.Arg568Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633317.1",
"strand": false,
"transcript": "ENST00000963258.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1182,
"aa_ref": "R",
"aa_start": 503,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3911,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 3549,
"cds_start": 1508,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963259.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1508_1509delGTinsCA",
"hgvs_p": "p.Arg503Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633318.1",
"strand": false,
"transcript": "ENST00000963259.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1013,
"aa_ref": "R",
"aa_start": 334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3475,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 3042,
"cds_start": 1001,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000963257.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1001_1002delGTinsCA",
"hgvs_p": "p.Arg334Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000633316.1",
"strand": false,
"transcript": "ENST00000963257.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7728,
"cdna_start": 3169,
"cds_end": null,
"cds_length": 3477,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443838.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1436_1437delGTinsCA",
"hgvs_p": "p.Arg479Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299794.1",
"strand": false,
"transcript": "XM_047443838.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1158,
"aa_ref": "R",
"aa_start": 479,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7444,
"cdna_start": 2885,
"cds_end": null,
"cds_length": 3477,
"cds_start": 1436,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443839.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1436_1437delGTinsCA",
"hgvs_p": "p.Arg479Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299795.1",
"strand": false,
"transcript": "XM_047443839.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 1030,
"aa_ref": "R",
"aa_start": 625,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 1969,
"cds_end": null,
"cds_length": 3093,
"cds_start": 1874,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047443840.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "c.1874_1875delGTinsCA",
"hgvs_p": "p.Arg625Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047299796.1",
"strand": false,
"transcript": "XM_047443840.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8308,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000470268.2",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "n.3758_3759delGTinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000470268.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 25,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000652026.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "n.*2941_*2942delGTinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498652.1",
"strand": false,
"transcript": "ENST00000652026.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000652738.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "n.*2133_*2134delGTinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499119.1",
"strand": false,
"transcript": "ENST00000652738.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 9283,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 25,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000652026.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "n.*2941_*2942delGTinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000498652.1",
"strand": false,
"transcript": "ENST00000652026.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 8478,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 26,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000652738.1",
"gene_hgnc_id": 10768,
"gene_symbol": "SF3B1",
"hgvs_c": "n.*2133_*2134delGTinsCA",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000499119.1",
"strand": false,
"transcript": "ENST00000652738.1",
"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": 10768,
"gene_symbol": "SF3B1",
"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": "Pathogenic",
"phylop100way_score": 7.815,
"pos": 197402758,
"ref": "AC",
"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_012433.4"
}
]
}