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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: 10-115148713-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=115148713&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 115148713,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "ENST00000355044.8",
"consequences": [
{
"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": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "NM_207303.4",
"protein_id": "NP_997186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": -4,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8746,
"mane_select": "ENST00000355044.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "ENST00000355044.8",
"protein_id": "ENSP00000347152.3",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1379,
"cds_start": -4,
"cds_end": null,
"cds_length": 4140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8746,
"mane_select": "NM_207303.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "ENST00000609571.5",
"protein_id": "ENSP00000476902.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": -4,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1818,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "NM_001276282.4",
"protein_id": "NP_001263211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 467,
"cds_start": -4,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1811,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "ENST00000527407.5",
"protein_id": "ENSP00000473412.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 398,
"cds_start": -4,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.629-11327C>A",
"hgvs_p": null,
"transcript": "ENST00000526946.5",
"protein_id": "ENSP00000431423.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 251,
"cds_start": -4,
"cds_end": null,
"cds_length": 758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "n.*815-11327C>A",
"hgvs_p": null,
"transcript": "ENST00000616894.1",
"protein_id": "ENSP00000483722.1",
"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": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285582",
"gene_hgnc_id": null,
"hgvs_c": "n.818-19600G>T",
"hgvs_p": null,
"transcript": "ENST00000648967.1",
"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": 6449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "n.722-11327C>A",
"hgvs_p": null,
"transcript": "ENST00000650603.1",
"protein_id": "ENSP00000497485.1",
"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": 6121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 7,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "n.1106-11327C>A",
"hgvs_p": null,
"transcript": "NR_074088.3",
"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": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "XM_017016035.3",
"protein_id": "XP_016871524.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1370,
"cds_start": -4,
"cds_end": null,
"cds_length": 4113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 10092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "XM_011539587.2",
"protein_id": "XP_011537889.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1333,
"cds_start": -4,
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"cds_length": 4002,
"cdna_start": null,
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"cdna_length": 8608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.629-11327C>A",
"hgvs_p": null,
"transcript": "XM_011539588.3",
"protein_id": "XP_011537890.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 1312,
"cds_start": -4,
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"cds_length": 3939,
"cdna_start": null,
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"cdna_length": 8339,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 28,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "XM_011539589.3",
"protein_id": "XP_011537891.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.392-11327C>A",
"hgvs_p": null,
"transcript": "XM_011539591.3",
"protein_id": "XP_011537893.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1233,
"cds_start": -4,
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"cds_length": 3702,
"cdna_start": null,
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"cdna_length": 8195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "XM_017016036.2",
"protein_id": "XP_016871525.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1113,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null,
"transcript": "XM_047424988.1",
"protein_id": "XP_047280944.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1094,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3750,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ATRNL1",
"gene_hgnc_id": 29063,
"dbsnp": "rs1314595",
"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": -1.0199999809265137,
"computational_prediction_selected": "Benign",
"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": -1.02,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -3.867,
"phylop100way_prediction": "Benign",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000355044.8",
"gene_symbol": "ATRNL1",
"hgnc_id": 29063,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.830-11327C>A",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000648967.1",
"gene_symbol": "ENSG00000285582",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.818-19600G>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}