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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: 22-24543908-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=24543908&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 24543908,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001284251.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Ile188Val",
"transcript": "NM_001284254.2",
"protein_id": "NP_001271183.1",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 239,
"cds_start": 562,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000435822.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284254.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Ile188Val",
"transcript": "ENST00000435822.6",
"protein_id": "ENSP00000405985.1",
"transcript_support_level": 1,
"aa_start": 188,
"aa_end": null,
"aa_length": 239,
"cds_start": 562,
"cds_end": null,
"cds_length": 720,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001284254.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435822.6"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val",
"transcript": "ENST00000621833.4",
"protein_id": "ENSP00000479370.1",
"transcript_support_level": 1,
"aa_start": 244,
"aa_end": null,
"aa_length": 296,
"cds_start": 730,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621833.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val",
"transcript": "NM_001284251.2",
"protein_id": "NP_001271180.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 296,
"cds_start": 730,
"cds_end": null,
"cds_length": 891,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284251.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val",
"transcript": "NM_001284252.2",
"protein_id": "NP_001271181.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 295,
"cds_start": 730,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284252.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val",
"transcript": "ENST00000404664.7",
"protein_id": "ENSP00000384121.3",
"transcript_support_level": 2,
"aa_start": 244,
"aa_end": null,
"aa_length": 295,
"cds_start": 730,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000404664.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.601A>G",
"hgvs_p": "p.Ile201Val",
"transcript": "NM_001284253.2",
"protein_id": "NP_001271182.1",
"transcript_support_level": null,
"aa_start": 201,
"aa_end": null,
"aa_length": 252,
"cds_start": 601,
"cds_end": null,
"cds_length": 759,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284253.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Ile188Val",
"transcript": "NM_031444.4",
"protein_id": "NP_113632.2",
"transcript_support_level": null,
"aa_start": 188,
"aa_end": null,
"aa_length": 240,
"cds_start": 562,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_031444.4"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.562A>G",
"hgvs_p": "p.Ile188Val",
"transcript": "ENST00000407471.7",
"protein_id": "ENSP00000386076.3",
"transcript_support_level": 5,
"aa_start": 188,
"aa_end": null,
"aa_length": 240,
"cds_start": 562,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000407471.7"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.433A>G",
"hgvs_p": "p.Ile145Val",
"transcript": "ENST00000951439.1",
"protein_id": "ENSP00000621498.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 197,
"cds_start": 433,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951439.1"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.433A>G",
"hgvs_p": "p.Ile145Val",
"transcript": "NM_001284255.2",
"protein_id": "NP_001271184.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 196,
"cds_start": 433,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284255.2"
},
{
"aa_ref": "I",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.433A>G",
"hgvs_p": "p.Ile145Val",
"transcript": "ENST00000894495.1",
"protein_id": "ENSP00000564554.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 196,
"cds_start": 433,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894495.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.387-808A>G",
"hgvs_p": null,
"transcript": "NM_001284256.2",
"protein_id": "NP_001271185.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284256.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.387-808A>G",
"hgvs_p": null,
"transcript": "ENST00000402766.5",
"protein_id": "ENSP00000384378.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 137,
"cds_start": null,
"cds_end": null,
"cds_length": 414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000402766.5"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.387-811A>G",
"hgvs_p": null,
"transcript": "NM_001284257.2",
"protein_id": "NP_001271186.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001284257.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.387-811A>G",
"hgvs_p": null,
"transcript": "ENST00000447813.6",
"protein_id": "ENSP00000387867.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 136,
"cds_start": null,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447813.6"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "c.555-808A>G",
"hgvs_p": null,
"transcript": "XM_005261761.3",
"protein_id": "XP_005261818.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 193,
"cds_start": null,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005261761.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "n.562A>G",
"hgvs_p": null,
"transcript": "ENST00000398245.8",
"protein_id": "ENSP00000381297.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000398245.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "n.176A>G",
"hgvs_p": null,
"transcript": "ENST00000493099.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000493099.1"
},
{
"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": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "n.126-2935A>G",
"hgvs_p": null,
"transcript": "ENST00000490922.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000490922.1"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "n.539-808A>G",
"hgvs_p": null,
"transcript": "NR_104286.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_104286.2"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"hgvs_c": "n.*137A>G",
"hgvs_p": null,
"transcript": "ENST00000480272.1",
"protein_id": null,
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000480272.1"
}
],
"gene_symbol": "GUCD1",
"gene_hgnc_id": 14237,
"dbsnp": "rs141530050",
"frequency_reference_population": 0.00020571772,
"hom_count_reference_population": 0,
"allele_count_reference_population": 332,
"gnomad_exomes_af": 0.000214118,
"gnomad_genomes_af": 0.000124959,
"gnomad_exomes_ac": 313,
"gnomad_genomes_ac": 19,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1657596230506897,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.085,
"revel_prediction": "Benign",
"alphamissense_score": 0.0854,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.44,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.833,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_001284251.2",
"gene_symbol": "GUCD1",
"hgnc_id": 14237,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.730A>G",
"hgvs_p": "p.Ile244Val"
}
],
"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
}