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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: 15-60351753-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=60351753&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 60351753,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001002858.3",
"consequences": [
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "NM_004039.3",
"protein_id": "NP_004030.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000451270.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004039.3"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000451270.7",
"protein_id": "ENSP00000387545.3",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004039.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000451270.7"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Gly268Glu",
"transcript": "ENST00000332680.8",
"protein_id": "ENSP00000346032.3",
"transcript_support_level": 1,
"aa_start": 268,
"aa_end": null,
"aa_length": 357,
"cds_start": 803,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000332680.8"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000396024.7",
"protein_id": "ENSP00000379342.3",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396024.7"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000421017.6",
"protein_id": "ENSP00000411352.2",
"transcript_support_level": 1,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000421017.6"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.833G>A",
"hgvs_p": "p.Gly278Glu",
"transcript": "ENST00000559780.6",
"protein_id": "ENSP00000453770.2",
"transcript_support_level": 3,
"aa_start": 278,
"aa_end": null,
"aa_length": 367,
"cds_start": 833,
"cds_end": null,
"cds_length": 1104,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559780.6"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.803G>A",
"hgvs_p": "p.Gly268Glu",
"transcript": "NM_001002858.3",
"protein_id": "NP_001002858.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 357,
"cds_start": 803,
"cds_end": null,
"cds_length": 1074,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002858.3"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.788G>A",
"hgvs_p": "p.Gly263Glu",
"transcript": "ENST00000971931.1",
"protein_id": "ENSP00000641990.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 352,
"cds_start": 788,
"cds_end": null,
"cds_length": 1059,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971931.1"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "NM_001002857.2",
"protein_id": "NP_001002857.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002857.2"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "NM_001136015.3",
"protein_id": "NP_001129487.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136015.3"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000557906.6",
"protein_id": "ENSP00000452895.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557906.6"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000558558.6",
"protein_id": "ENSP00000452981.2",
"transcript_support_level": 3,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558558.6"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000559818.6",
"protein_id": "ENSP00000453859.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559818.6"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000559956.6",
"protein_id": "ENSP00000453694.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000559956.6"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000560468.6",
"protein_id": "ENSP00000452858.2",
"transcript_support_level": 5,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560468.6"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000677968.1",
"protein_id": "ENSP00000503447.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677968.1"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000678061.1",
"protein_id": "ENSP00000503855.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678061.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000678450.1",
"protein_id": "ENSP00000504164.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678450.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000678870.1",
"protein_id": "ENSP00000503757.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678870.1"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000679109.1",
"protein_id": "ENSP00000504035.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000679109.1"
},
{
"aa_ref": "G",
"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": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000861991.1",
"protein_id": "ENSP00000532050.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861991.1"
},
{
"aa_ref": "G",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANXA2",
"gene_hgnc_id": 537,
"hgvs_c": "c.749G>A",
"hgvs_p": "p.Gly250Glu",
"transcript": "ENST00000861992.1",
"protein_id": "ENSP00000532051.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 339,
"cds_start": 749,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000861992.1"
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{
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],
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"dbsnp": "rs757848231",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 0.00000342162,
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"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9369745850563049,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.583,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9964,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.48,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"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": "PP3_Moderate",
"acmg_by_gene": [
{
"score": 2,
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"pathogenic_score": 2,
"criteria": [
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001002858.3",
"gene_symbol": "ANXA2",
"hgnc_id": 537,
"effects": [
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],
"inheritance_mode": "AR",
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"hgvs_p": "p.Gly268Glu"
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],
"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
}