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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: 11-118581318-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=118581318&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 118581318,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_001425073.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "NM_001655.5",
"protein_id": "NP_001646.2",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 511,
"cds_start": 76,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264028.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001655.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "ENST00000264028.5",
"protein_id": "ENSP00000264028.4",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 511,
"cds_start": 76,
"cds_end": null,
"cds_length": 1536,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001655.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264028.5"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.199C>T",
"hgvs_p": "p.Arg67*",
"transcript": "ENST00000359415.8",
"protein_id": "ENSP00000352385.4",
"transcript_support_level": 1,
"aa_start": 67,
"aa_end": null,
"aa_length": 552,
"cds_start": 199,
"cds_end": null,
"cds_length": 1659,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359415.8"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "NM_001425073.1",
"protein_id": "NP_001412002.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 532,
"cds_start": 76,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425073.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "ENST00000935081.1",
"protein_id": "ENSP00000605140.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 532,
"cds_start": 76,
"cds_end": null,
"cds_length": 1599,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935081.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "NM_001425074.1",
"protein_id": "NP_001412003.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 510,
"cds_start": 76,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425074.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.19C>T",
"hgvs_p": "p.Arg7*",
"transcript": "NM_001425075.1",
"protein_id": "NP_001412004.1",
"transcript_support_level": null,
"aa_start": 7,
"aa_end": null,
"aa_length": 492,
"cds_start": 19,
"cds_end": null,
"cds_length": 1479,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425075.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.7C>T",
"hgvs_p": "p.Arg3*",
"transcript": "NM_001425076.1",
"protein_id": "NP_001412005.1",
"transcript_support_level": null,
"aa_start": 3,
"aa_end": null,
"aa_length": 488,
"cds_start": 7,
"cds_end": null,
"cds_length": 1467,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425076.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "ENST00000935082.1",
"protein_id": "ENSP00000605141.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 477,
"cds_start": 76,
"cds_end": null,
"cds_length": 1434,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935082.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "NM_001425077.1",
"protein_id": "NP_001412006.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 456,
"cds_start": 76,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425077.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "NM_001425078.1",
"protein_id": "NP_001412007.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 417,
"cds_start": 76,
"cds_end": null,
"cds_length": 1254,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425078.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "NM_001425079.1",
"protein_id": "NP_001412008.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 416,
"cds_start": 76,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425079.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "ENST00000954507.1",
"protein_id": "ENSP00000624566.1",
"transcript_support_level": null,
"aa_start": 26,
"aa_end": null,
"aa_length": 260,
"cds_start": 76,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954507.1"
},
{
"aa_ref": "R",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*",
"transcript": "ENST00000534182.2",
"protein_id": "ENSP00000431676.1",
"transcript_support_level": 5,
"aa_start": 26,
"aa_end": null,
"aa_length": 83,
"cds_start": 76,
"cds_end": null,
"cds_length": 252,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534182.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.4-1861C>T",
"hgvs_p": null,
"transcript": "NM_001142281.2",
"protein_id": "NP_001135753.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001142281.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.4-1861C>T",
"hgvs_p": null,
"transcript": "ENST00000392859.7",
"protein_id": "ENSP00000376599.3",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 423,
"cds_start": null,
"cds_end": null,
"cds_length": 1272,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392859.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.4-2491C>T",
"hgvs_p": null,
"transcript": "NM_001425080.1",
"protein_id": "NP_001412009.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.4-2491C>T",
"hgvs_p": null,
"transcript": "ENST00000935080.1",
"protein_id": "ENSP00000605139.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 363,
"cds_start": null,
"cds_end": null,
"cds_length": 1092,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935080.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "c.4-1861C>T",
"hgvs_p": null,
"transcript": "NM_001425081.1",
"protein_id": "NP_001412010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 329,
"cds_start": null,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001425081.1"
},
{
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "n.215C>T",
"hgvs_p": null,
"transcript": "NR_189131.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_189131.1"
},
{
"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": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"hgvs_c": "n.215C>T",
"hgvs_p": null,
"transcript": "NR_189132.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_189132.1"
}
],
"gene_symbol": "ARCN1",
"gene_hgnc_id": 649,
"dbsnp": "rs1555074545",
"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": 0.6499999761581421,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.65,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.506,
"phylop100way_prediction": "Uncertain_significance",
"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": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_001425073.1",
"gene_symbol": "ARCN1",
"hgnc_id": 649,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.76C>T",
"hgvs_p": "p.Arg26*"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}