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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: 5-82058570-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=82058570&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 82058570,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000282185.8",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "NM_031482.5",
"protein_id": "NP_113670.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": "ENST00000282185.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "ENST00000282185.8",
"protein_id": "ENSP00000282185.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": "NM_031482.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "ENST00000458350.7",
"protein_id": "ENSP00000404938.3",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 1795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "ENST00000513443.5",
"protein_id": "ENSP00000425182.1",
"transcript_support_level": 1,
"aa_start": 62,
"aa_end": null,
"aa_length": 125,
"cds_start": 184,
"cds_end": null,
"cds_length": 378,
"cdna_start": 631,
"cdna_end": null,
"cdna_length": 978,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "NM_001131028.2",
"protein_id": "NP_001124500.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "ENST00000513634.1",
"protein_id": "ENSP00000425225.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 184,
"cds_start": 184,
"cds_end": null,
"cds_length": 555,
"cdna_start": 197,
"cdna_end": null,
"cdna_length": 618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "ENST00000355178.8",
"protein_id": "ENSP00000347309.4",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 125,
"cds_start": 184,
"cds_end": null,
"cds_length": 378,
"cdna_start": 478,
"cdna_end": null,
"cdna_length": 1438,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "XM_005248610.6",
"protein_id": "XP_005248667.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 706,
"cdna_end": null,
"cdna_length": 3255,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "XM_005248611.6",
"protein_id": "XP_005248668.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 715,
"cdna_end": null,
"cdna_length": 3264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "XM_047417798.1",
"protein_id": "XP_047273754.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 1784,
"cdna_end": null,
"cdna_length": 4333,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "XM_047417799.1",
"protein_id": "XP_047273755.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 375,
"cdna_end": null,
"cdna_length": 2924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro",
"transcript": "XM_047417800.1",
"protein_id": "XP_047273756.1",
"transcript_support_level": null,
"aa_start": 62,
"aa_end": null,
"aa_length": 220,
"cds_start": 184,
"cds_end": null,
"cds_length": 663,
"cdna_start": 765,
"cdna_end": null,
"cdna_length": 3314,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.58T>C",
"hgvs_p": "p.Ser20Pro",
"transcript": "XM_011543660.3",
"protein_id": "XP_011541962.1",
"transcript_support_level": null,
"aa_start": 20,
"aa_end": null,
"aa_length": 178,
"cds_start": 58,
"cds_end": null,
"cds_length": 537,
"cdna_start": 179,
"cdna_end": null,
"cdna_length": 2728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "n.184T>C",
"hgvs_p": null,
"transcript": "ENST00000504770.5",
"protein_id": "ENSP00000424236.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 813,
"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": 2,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.108+70892T>C",
"hgvs_p": null,
"transcript": "XM_005248612.4",
"protein_id": "XP_005248669.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2921,
"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": 3,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.108+70892T>C",
"hgvs_p": null,
"transcript": "XM_017009944.2",
"protein_id": "XP_016865433.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"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
},
{
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.108+70892T>C",
"hgvs_p": null,
"transcript": "XM_047417801.1",
"protein_id": "XP_047273757.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
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"cds_length": 555,
"cdna_start": null,
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"cdna_length": 3147,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.108+70892T>C",
"hgvs_p": null,
"transcript": "XM_047417802.1",
"protein_id": "XP_047273758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
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"cds_length": 555,
"cdna_start": null,
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"cdna_length": 3158,
"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": 7,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"hgvs_c": "c.108+70892T>C",
"hgvs_p": null,
"transcript": "XM_047417803.1",
"protein_id": "XP_047273759.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 184,
"cds_start": -4,
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"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "ATG10",
"gene_hgnc_id": 20315,
"dbsnp": "rs3734114",
"frequency_reference_population": 0.19899277,
"hom_count_reference_population": 34675,
"allele_count_reference_population": 320489,
"gnomad_exomes_af": 0.202368,
"gnomad_genomes_af": 0.166607,
"gnomad_exomes_ac": 295163,
"gnomad_genomes_ac": 25326,
"gnomad_exomes_homalt": 32169,
"gnomad_genomes_homalt": 2506,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003543168306350708,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.028,
"revel_prediction": "Benign",
"alphamissense_score": 0.0729,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.64,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.77,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000282185.8",
"gene_symbol": "ATG10",
"hgnc_id": 20315,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.184T>C",
"hgvs_p": "p.Ser62Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}