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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: 20-18384491-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=18384491&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 18384491,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001367614.1",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2242G>T",
"hgvs_p": "p.Asp748Tyr",
"transcript": "NM_001367614.1",
"protein_id": "NP_001354543.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 777,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000699568.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367614.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2242G>T",
"hgvs_p": "p.Asp748Tyr",
"transcript": "ENST00000699568.1",
"protein_id": "ENSP00000514442.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 777,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001367614.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699568.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Asp734Tyr",
"transcript": "ENST00000699590.1",
"protein_id": "ENSP00000514461.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 763,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699590.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2185G>T",
"hgvs_p": "p.Asp729Tyr",
"transcript": "ENST00000699525.1",
"protein_id": "ENSP00000514418.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 758,
"cds_start": 2185,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699525.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.1588G>T",
"hgvs_p": "p.Asp530Tyr",
"transcript": "ENST00000357236.8",
"protein_id": "ENSP00000349774.5",
"transcript_support_level": 5,
"aa_start": 530,
"aa_end": null,
"aa_length": 559,
"cds_start": 1588,
"cds_end": null,
"cds_length": 1680,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357236.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.*1373G>T",
"hgvs_p": null,
"transcript": "ENST00000377630.9",
"protein_id": "ENSP00000366857.6",
"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": "nonsense_mediated_decay",
"feature": "ENST00000377630.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "n.*1373G>T",
"hgvs_p": null,
"transcript": "ENST00000377630.9",
"protein_id": "ENSP00000366857.6",
"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": "nonsense_mediated_decay",
"feature": "ENST00000377630.9"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2251G>T",
"hgvs_p": "p.Asp751Tyr",
"transcript": "ENST00000913456.1",
"protein_id": "ENSP00000583515.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 780,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913456.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2251G>T",
"hgvs_p": "p.Asp751Tyr",
"transcript": "ENST00000913459.1",
"protein_id": "ENSP00000583518.1",
"transcript_support_level": null,
"aa_start": 751,
"aa_end": null,
"aa_length": 780,
"cds_start": 2251,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913459.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2245G>T",
"hgvs_p": "p.Asp749Tyr",
"transcript": "ENST00000913462.1",
"protein_id": "ENSP00000583521.1",
"transcript_support_level": null,
"aa_start": 749,
"aa_end": null,
"aa_length": 778,
"cds_start": 2245,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913462.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2242G>T",
"hgvs_p": "p.Asp748Tyr",
"transcript": "NM_001367617.1",
"protein_id": "NP_001354546.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 777,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367617.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2242G>T",
"hgvs_p": "p.Asp748Tyr",
"transcript": "NM_001367618.1",
"protein_id": "NP_001354547.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 777,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367618.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2242G>T",
"hgvs_p": "p.Asp748Tyr",
"transcript": "ENST00000907847.1",
"protein_id": "ENSP00000577906.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 777,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907847.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2242G>T",
"hgvs_p": "p.Asp748Tyr",
"transcript": "ENST00000907854.1",
"protein_id": "ENSP00000577913.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 777,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907854.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2242G>T",
"hgvs_p": "p.Asp748Tyr",
"transcript": "ENST00000913461.1",
"protein_id": "ENSP00000583520.1",
"transcript_support_level": null,
"aa_start": 748,
"aa_end": null,
"aa_length": 777,
"cds_start": 2242,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913461.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2224G>T",
"hgvs_p": "p.Asp742Tyr",
"transcript": "NM_001351683.4",
"protein_id": "NP_001338612.2",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 771,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351683.4"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2224G>T",
"hgvs_p": "p.Asp742Tyr",
"transcript": "NM_001351684.2",
"protein_id": "NP_001338613.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 771,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001351684.2"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2224G>T",
"hgvs_p": "p.Asp742Tyr",
"transcript": "ENST00000907851.1",
"protein_id": "ENSP00000577910.1",
"transcript_support_level": null,
"aa_start": 742,
"aa_end": null,
"aa_length": 771,
"cds_start": 2224,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907851.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Asp734Tyr",
"transcript": "NM_001367612.1",
"protein_id": "NP_001354541.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 763,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367612.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Asp734Tyr",
"transcript": "NM_001367613.1",
"protein_id": "NP_001354542.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 763,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001367613.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Asp734Tyr",
"transcript": "ENST00000907855.1",
"protein_id": "ENSP00000577914.1",
"transcript_support_level": null,
"aa_start": 734,
"aa_end": null,
"aa_length": 763,
"cds_start": 2200,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907855.1"
},
{
"aa_ref": "D",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DZANK1",
"gene_hgnc_id": 15858,
"hgvs_c": "c.2200G>T",
"hgvs_p": "p.Asp734Tyr",
"transcript": "ENST00000913455.1",
"protein_id": "ENSP00000583514.1",
"transcript_support_level": null,
"aa_start": 734,
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"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.85031e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.30024152994155884,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.162,
"revel_prediction": "Benign",
"alphamissense_score": 0.0919,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.32,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.65,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001367614.1",
"gene_symbol": "DZANK1",
"hgnc_id": 15858,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.2242G>T",
"hgvs_p": "p.Asp748Tyr"
}
],
"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
}