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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: 9-72912074-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=72912074&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 72912074,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_000689.5",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Lys362Glu",
"transcript": "NM_000689.5",
"protein_id": "NP_000680.2",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 501,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000297785.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000689.5"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Lys362Glu",
"transcript": "ENST00000297785.8",
"protein_id": "ENSP00000297785.3",
"transcript_support_level": 1,
"aa_start": 362,
"aa_end": null,
"aa_length": 501,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000689.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297785.8"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1174A>G",
"hgvs_p": "p.Lys392Glu",
"transcript": "ENST00000856212.1",
"protein_id": "ENSP00000526271.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 531,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856212.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1153A>G",
"hgvs_p": "p.Lys385Glu",
"transcript": "ENST00000966555.1",
"protein_id": "ENSP00000636614.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 524,
"cds_start": 1153,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966555.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Lys362Glu",
"transcript": "ENST00000856200.1",
"protein_id": "ENSP00000526259.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 501,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856200.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Lys362Glu",
"transcript": "ENST00000856201.1",
"protein_id": "ENSP00000526260.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 501,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856201.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Lys362Glu",
"transcript": "ENST00000856202.1",
"protein_id": "ENSP00000526261.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 501,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856202.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Lys362Glu",
"transcript": "ENST00000856203.1",
"protein_id": "ENSP00000526262.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 501,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856203.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Lys361Glu",
"transcript": "ENST00000856207.1",
"protein_id": "ENSP00000526266.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 500,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856207.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Lys362Glu",
"transcript": "ENST00000856208.1",
"protein_id": "ENSP00000526267.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 500,
"cds_start": 1084,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856208.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1081A>G",
"hgvs_p": "p.Lys361Glu",
"transcript": "ENST00000966554.1",
"protein_id": "ENSP00000636613.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 500,
"cds_start": 1081,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966554.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1063A>G",
"hgvs_p": "p.Lys355Glu",
"transcript": "ENST00000856204.1",
"protein_id": "ENSP00000526263.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 494,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1485,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856204.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1051A>G",
"hgvs_p": "p.Lys351Glu",
"transcript": "ENST00000856210.1",
"protein_id": "ENSP00000526269.1",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 490,
"cds_start": 1051,
"cds_end": null,
"cds_length": 1473,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856210.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.979A>G",
"hgvs_p": "p.Lys327Glu",
"transcript": "ENST00000856211.1",
"protein_id": "ENSP00000526270.1",
"transcript_support_level": null,
"aa_start": 327,
"aa_end": null,
"aa_length": 466,
"cds_start": 979,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856211.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.970A>G",
"hgvs_p": "p.Lys324Glu",
"transcript": "ENST00000856206.1",
"protein_id": "ENSP00000526265.1",
"transcript_support_level": null,
"aa_start": 324,
"aa_end": null,
"aa_length": 463,
"cds_start": 970,
"cds_end": null,
"cds_length": 1392,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856206.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.955A>G",
"hgvs_p": "p.Lys319Glu",
"transcript": "ENST00000856213.1",
"protein_id": "ENSP00000526272.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 458,
"cds_start": 955,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856213.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.841A>G",
"hgvs_p": "p.Lys281Glu",
"transcript": "ENST00000856205.1",
"protein_id": "ENSP00000526264.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 420,
"cds_start": 841,
"cds_end": null,
"cds_length": 1263,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856205.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.115A>G",
"hgvs_p": "p.Lys39Glu",
"transcript": "ENST00000856209.1",
"protein_id": "ENSP00000526268.1",
"transcript_support_level": null,
"aa_start": 39,
"aa_end": null,
"aa_length": 178,
"cds_start": 115,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856209.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 9,
"intron_rank_end": null,
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"hgvs_c": "c.1036-2315A>G",
"hgvs_p": null,
"transcript": "ENST00000966556.1",
"protein_id": "ENSP00000636615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 446,
"cds_start": null,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966556.1"
}
],
"gene_symbol": "ALDH1A1",
"gene_hgnc_id": 402,
"dbsnp": "rs1317026971",
"frequency_reference_population": 0.0000020526238,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000205262,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.46056056022644043,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.12,
"revel_prediction": "Benign",
"alphamissense_score": 0.2562,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.704,
"phylop100way_prediction": "Uncertain_significance",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000689.5",
"gene_symbol": "ALDH1A1",
"hgnc_id": 402,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1084A>G",
"hgvs_p": "p.Lys362Glu"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}