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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: 3-126107160-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=126107160&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 126107160,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000393434.7",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2434A>G",
"hgvs_p": "p.Ile812Val",
"transcript": "NM_012190.4",
"protein_id": "NP_036322.2",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 902,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": "ENST00000393434.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2434A>G",
"hgvs_p": "p.Ile812Val",
"transcript": "ENST00000393434.7",
"protein_id": "ENSP00000377083.3",
"transcript_support_level": 1,
"aa_start": 812,
"aa_end": null,
"aa_length": 902,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2568,
"cdna_end": null,
"cdna_length": 3064,
"mane_select": "NM_012190.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2464A>G",
"hgvs_p": "p.Ile822Val",
"transcript": "ENST00000273450.7",
"protein_id": "ENSP00000273450.3",
"transcript_support_level": 1,
"aa_start": 822,
"aa_end": null,
"aa_length": 912,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 3179,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.*665A>G",
"hgvs_p": null,
"transcript": "ENST00000393431.6",
"protein_id": "ENSP00000377081.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2797,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2464A>G",
"hgvs_p": "p.Ile822Val",
"transcript": "NM_001270364.2",
"protein_id": "NP_001257293.1",
"transcript_support_level": null,
"aa_start": 822,
"aa_end": null,
"aa_length": 912,
"cds_start": 2464,
"cds_end": null,
"cds_length": 2739,
"cdna_start": 2682,
"cdna_end": null,
"cdna_length": 3178,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2434A>G",
"hgvs_p": "p.Ile812Val",
"transcript": "ENST00000472186.5",
"protein_id": "ENSP00000420293.1",
"transcript_support_level": 5,
"aa_start": 812,
"aa_end": null,
"aa_length": 902,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2662,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2131A>G",
"hgvs_p": "p.Ile711Val",
"transcript": "NM_001270365.2",
"protein_id": "NP_001257294.1",
"transcript_support_level": null,
"aa_start": 711,
"aa_end": null,
"aa_length": 801,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 2761,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2131A>G",
"hgvs_p": "p.Ile711Val",
"transcript": "ENST00000452905.6",
"protein_id": "ENSP00000395881.2",
"transcript_support_level": 2,
"aa_start": 711,
"aa_end": null,
"aa_length": 801,
"cds_start": 2131,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 2265,
"cdna_end": null,
"cdna_length": 2758,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2434A>G",
"hgvs_p": "p.Ile812Val",
"transcript": "XM_006713481.4",
"protein_id": "XP_006713544.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 902,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2543,
"cdna_end": null,
"cdna_length": 3039,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2434A>G",
"hgvs_p": "p.Ile812Val",
"transcript": "XM_011512355.2",
"protein_id": "XP_011510657.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 902,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2537,
"cdna_end": null,
"cdna_length": 3033,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2434A>G",
"hgvs_p": "p.Ile812Val",
"transcript": "XM_024453325.2",
"protein_id": "XP_024309093.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 902,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2709,
"cdna_start": 2668,
"cdna_end": null,
"cdna_length": 3164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2242A>G",
"hgvs_p": "p.Ile748Val",
"transcript": "XM_017005613.3",
"protein_id": "XP_016861102.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 838,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2517,
"cdna_start": 2460,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.2212A>G",
"hgvs_p": "p.Ile738Val",
"transcript": "XM_017005614.3",
"protein_id": "XP_016861103.1",
"transcript_support_level": null,
"aa_start": 738,
"aa_end": null,
"aa_length": 828,
"cds_start": 2212,
"cds_end": null,
"cds_length": 2487,
"cdna_start": 2346,
"cdna_end": null,
"cdna_length": 2842,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "n.432A>G",
"hgvs_p": null,
"transcript": "ENST00000462808.1",
"protein_id": null,
"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": 516,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "n.1298A>G",
"hgvs_p": null,
"transcript": "ENST00000467370.5",
"protein_id": null,
"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": 3670,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1-AS1",
"gene_hgnc_id": 40244,
"hgvs_c": "n.2689T>C",
"hgvs_p": null,
"transcript": "ENST00000507924.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 3575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "n.2317A>G",
"hgvs_p": null,
"transcript": "NR_072979.2",
"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": 2813,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1-AS1",
"gene_hgnc_id": 40244,
"hgvs_c": "n.2801T>C",
"hgvs_p": null,
"transcript": "NR_190231.1",
"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": 3711,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"hgvs_c": "c.*765A>G",
"hgvs_p": null,
"transcript": "ENST00000455064.6",
"protein_id": "ENSP00000414126.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 505,
"cds_start": -4,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3137,
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ALDH1L1-AS1",
"gene_hgnc_id": 40244,
"hgvs_c": "n.624-724T>C",
"hgvs_p": null,
"transcript": "ENST00000512384.2",
"protein_id": null,
"transcript_support_level": 3,
"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": 809,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ALDH1L1",
"gene_hgnc_id": 3978,
"dbsnp": "rs4646750",
"frequency_reference_population": 0.06913732,
"hom_count_reference_population": 4282,
"allele_count_reference_population": 111568,
"gnomad_exomes_af": 0.0681499,
"gnomad_genomes_af": 0.0786199,
"gnomad_exomes_ac": 99603,
"gnomad_genomes_ac": 11965,
"gnomad_exomes_homalt": 3725,
"gnomad_genomes_homalt": 557,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0017670989036560059,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.026,
"revel_prediction": "Benign",
"alphamissense_score": 0.1099,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.6,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.554,
"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": -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": "ENST00000393434.7",
"gene_symbol": "ALDH1L1",
"hgnc_id": 3978,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2434A>G",
"hgvs_p": "p.Ile812Val"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000507924.2",
"gene_symbol": "ALDH1L1-AS1",
"hgnc_id": 40244,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.2689T>C",
"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
}