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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: 16-3113479-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=3113479&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 3113479,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001042428.2",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "NM_001042428.2",
"protein_id": "NP_001035893.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 554,
"cds_start": 49,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": "ENST00000219091.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "ENST00000219091.9",
"protein_id": "ENSP00000219091.4",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 554,
"cds_start": 49,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 160,
"cdna_end": null,
"cdna_length": 1968,
"mane_select": "NM_001042428.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "ENST00000382192.7",
"protein_id": "ENSP00000371627.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 554,
"cds_start": 49,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 254,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "ENST00000620094.4",
"protein_id": "ENSP00000480401.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 554,
"cds_start": 49,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "NM_001278158.2",
"protein_id": "NP_001265087.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 554,
"cds_start": 49,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 496,
"cdna_end": null,
"cdna_length": 2304,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "NM_003456.3",
"protein_id": "NP_003447.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 554,
"cds_start": 49,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 228,
"cdna_end": null,
"cdna_length": 2036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "ENST00000414351.5",
"protein_id": "ENSP00000403306.1",
"transcript_support_level": 3,
"aa_start": 17,
"aa_end": null,
"aa_length": 277,
"cds_start": 49,
"cds_end": null,
"cds_length": 836,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 1006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "ENST00000444510.6",
"protein_id": "ENSP00000394360.2",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 117,
"cds_start": 49,
"cds_end": null,
"cds_length": 354,
"cdna_start": 421,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "XM_005255558.3",
"protein_id": "XP_005255615.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 554,
"cds_start": 49,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 428,
"cdna_end": null,
"cdna_length": 2236,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr",
"transcript": "XM_047434601.1",
"protein_id": "XP_047290557.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 554,
"cds_start": 49,
"cds_end": null,
"cds_length": 1665,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 2162,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.4424G>T",
"hgvs_p": null,
"transcript": "ENST00000653667.1",
"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": 4967,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.4053G>T",
"hgvs_p": null,
"transcript": "ENST00000657201.1",
"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": 4266,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.3193G>T",
"hgvs_p": null,
"transcript": "ENST00000657996.1",
"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,
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"cdna_length": 3406,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.4574G>T",
"hgvs_p": null,
"transcript": "ENST00000668823.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.2737+1316G>T",
"hgvs_p": null,
"transcript": "ENST00000572691.2",
"protein_id": null,
"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,
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"cdna_length": 3232,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.2732+1316G>T",
"hgvs_p": null,
"transcript": "ENST00000664624.1",
"protein_id": null,
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},
{
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"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
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"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.3263+1316G>T",
"hgvs_p": null,
"transcript": "ENST00000670666.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.3059+1316G>T",
"hgvs_p": null,
"transcript": "ENST00000673666.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 3820,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"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": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.1776+1316G>T",
"hgvs_p": null,
"transcript": "ENST00000674022.1",
"protein_id": null,
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},
{
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"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF213-AS1",
"gene_hgnc_id": 50505,
"hgvs_c": "n.410-700G>T",
"hgvs_p": null,
"transcript": "ENST00000807030.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF205-AS1",
"gene_hgnc_id": 28586,
"hgvs_c": "n.724+1316G>T",
"hgvs_p": null,
"transcript": "NR_024166.1",
"protein_id": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ZNF205-AS1",
"gene_hgnc_id": 28586,
"hgvs_c": "n.719+1316G>T",
"hgvs_p": null,
"transcript": "NR_024167.1",
"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": 1214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ZNF205",
"gene_hgnc_id": 12996,
"dbsnp": "rs754509014",
"frequency_reference_population": 0.0000027377982,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.0000027378,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.046250730752944946,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.03,
"revel_prediction": "Benign",
"alphamissense_score": 0.0567,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.132,
"phylop100way_prediction": "Benign",
"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": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_001042428.2",
"gene_symbol": "ZNF205",
"hgnc_id": 12996,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Pro17Thr"
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000653667.1",
"gene_symbol": "ZNF213-AS1",
"hgnc_id": 50505,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.4424G>T",
"hgvs_p": null
},
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NR_024166.1",
"gene_symbol": "ZNF205-AS1",
"hgnc_id": 28586,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.724+1316G>T",
"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
}