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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: 8-90036894-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=90036894&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 90036894,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000220764.7",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.619G>T",
"hgvs_p": "p.Val207Leu",
"transcript": "NM_001359.2",
"protein_id": "NP_001350.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 335,
"cds_start": 619,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": "ENST00000220764.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.619G>T",
"hgvs_p": "p.Val207Leu",
"transcript": "ENST00000220764.7",
"protein_id": "ENSP00000220764.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 335,
"cds_start": 619,
"cds_end": null,
"cds_length": 1008,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2760,
"mane_select": "NM_001359.2",
"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": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.*237-5834G>T",
"hgvs_p": null,
"transcript": "ENST00000519328.5",
"protein_id": "ENSP00000431045.1",
"transcript_support_level": 1,
"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": 816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Val198Leu",
"transcript": "NM_001330575.2",
"protein_id": "NP_001317504.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 326,
"cds_start": 592,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 3400,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000522161.5",
"protein_id": "ENSP00000429779.1",
"transcript_support_level": 2,
"aa_start": 198,
"aa_end": null,
"aa_length": 326,
"cds_start": 592,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 1766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Val198Leu",
"transcript": "ENST00000517761.5",
"protein_id": "ENSP00000427936.1",
"transcript_support_level": 3,
"aa_start": 198,
"aa_end": null,
"aa_length": 204,
"cds_start": 592,
"cds_end": null,
"cds_length": 616,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Val198Leu",
"transcript": "XM_011516880.4",
"protein_id": "XP_011515182.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 326,
"cds_start": 592,
"cds_end": null,
"cds_length": 981,
"cdna_start": 761,
"cdna_end": null,
"cdna_length": 2886,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Val198Leu",
"transcript": "XM_047421409.1",
"protein_id": "XP_047277365.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 326,
"cds_start": 592,
"cds_end": null,
"cds_length": 981,
"cdna_start": 1376,
"cdna_end": null,
"cdna_length": 3501,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.592G>T",
"hgvs_p": "p.Val198Leu",
"transcript": "XM_047421410.1",
"protein_id": "XP_047277366.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 326,
"cds_start": 592,
"cds_end": null,
"cds_length": 981,
"cdna_start": 4569,
"cdna_end": null,
"cdna_length": 6694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.343G>T",
"hgvs_p": "p.Val115Leu",
"transcript": "XM_005250808.6",
"protein_id": "XP_005250865.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 243,
"cds_start": 343,
"cds_end": null,
"cds_length": 732,
"cdna_start": 432,
"cdna_end": null,
"cdna_length": 2557,
"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": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.125G>T",
"hgvs_p": null,
"transcript": "ENST00000517301.5",
"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": 464,
"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": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.*393G>T",
"hgvs_p": null,
"transcript": "ENST00000517314.5",
"protein_id": "ENSP00000428533.1",
"transcript_support_level": 5,
"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": 654,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.*290G>T",
"hgvs_p": null,
"transcript": "ENST00000517597.5",
"protein_id": "ENSP00000429551.1",
"transcript_support_level": 5,
"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": 897,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.*290G>T",
"hgvs_p": null,
"transcript": "ENST00000521603.5",
"protein_id": "ENSP00000428701.1",
"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": 578,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.471G>T",
"hgvs_p": null,
"transcript": "ENST00000523447.5",
"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": 727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.*393G>T",
"hgvs_p": null,
"transcript": "ENST00000517314.5",
"protein_id": "ENSP00000428533.1",
"transcript_support_level": 5,
"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": 654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.*290G>T",
"hgvs_p": null,
"transcript": "ENST00000517597.5",
"protein_id": "ENSP00000429551.1",
"transcript_support_level": 5,
"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": 897,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.*290G>T",
"hgvs_p": null,
"transcript": "ENST00000521603.5",
"protein_id": "ENSP00000428701.1",
"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": 578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.*9G>T",
"hgvs_p": null,
"transcript": "ENST00000519410.5",
"protein_id": "ENSP00000430561.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 180,
"cds_start": -4,
"cds_end": null,
"cds_length": 544,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "c.*15G>T",
"hgvs_p": null,
"transcript": "ENST00000520227.1",
"protein_id": "ENSP00000429096.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 150,
"cds_start": -4,
"cds_end": null,
"cds_length": 454,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 864,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"hgvs_c": "n.*13G>T",
"hgvs_p": null,
"transcript": "ENST00000524326.1",
"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": 679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DECR1",
"gene_hgnc_id": 2753,
"dbsnp": "rs774551643",
"frequency_reference_population": 0.00010661443,
"hom_count_reference_population": 0,
"allele_count_reference_population": 172,
"gnomad_exomes_af": 0.000113608,
"gnomad_genomes_af": 0.0000394415,
"gnomad_exomes_ac": 166,
"gnomad_genomes_ac": 6,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.553256630897522,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.303,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.03,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.739,
"phylop100way_prediction": "Pathogenic",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000220764.7",
"gene_symbol": "DECR1",
"hgnc_id": 2753,
"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.619G>T",
"hgvs_p": "p.Val207Leu"
}
],
"clinvar_disease": "Progressive encephalopathy with leukodystrophy due to DECR deficiency,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Progressive encephalopathy with leukodystrophy due to DECR deficiency|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}