← Back to variant description
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: 19-46838489-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46838489&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46838489,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001301076.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.387G>A",
"hgvs_p": "p.Thr129Thr",
"transcript": "NM_004069.6",
"protein_id": "NP_004060.2",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 142,
"cds_start": 387,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263270.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004069.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.387G>A",
"hgvs_p": "p.Thr129Thr",
"transcript": "ENST00000263270.11",
"protein_id": "ENSP00000263270.6",
"transcript_support_level": 1,
"aa_start": 129,
"aa_end": null,
"aa_length": 142,
"cds_start": 387,
"cds_end": null,
"cds_length": 429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004069.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263270.11"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.327G>A",
"hgvs_p": "p.Thr109Thr",
"transcript": "ENST00000597020.5",
"protein_id": "ENSP00000470235.1",
"transcript_support_level": 1,
"aa_start": 109,
"aa_end": null,
"aa_length": 122,
"cds_start": 327,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000597020.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "n.141G>A",
"hgvs_p": null,
"transcript": "ENST00000600964.1",
"protein_id": null,
"transcript_support_level": 1,
"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": "ENST00000600964.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.504G>A",
"hgvs_p": "p.Thr168Thr",
"transcript": "ENST00000960448.1",
"protein_id": "ENSP00000630507.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 181,
"cds_start": 504,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960448.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Thr145Thr",
"transcript": "NM_001301076.3",
"protein_id": "NP_001288005.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 158,
"cds_start": 435,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301076.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Thr145Thr",
"transcript": "ENST00000601498.5",
"protein_id": "ENSP00000470176.1",
"transcript_support_level": 2,
"aa_start": 145,
"aa_end": null,
"aa_length": 158,
"cds_start": 435,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601498.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.429G>A",
"hgvs_p": "p.Thr143Thr",
"transcript": "NM_001301078.3",
"protein_id": "NP_001288007.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 156,
"cds_start": 429,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301078.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.429G>A",
"hgvs_p": "p.Thr143Thr",
"transcript": "ENST00000352203.8",
"protein_id": "ENSP00000263271.6",
"transcript_support_level": 2,
"aa_start": 143,
"aa_end": null,
"aa_length": 156,
"cds_start": 429,
"cds_end": null,
"cds_length": 471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352203.8"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Thr131Thr",
"transcript": "NM_001301081.3",
"protein_id": "NP_001288010.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 144,
"cds_start": 393,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301081.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.393G>A",
"hgvs_p": "p.Thr131Thr",
"transcript": "ENST00000599990.5",
"protein_id": "ENSP00000471340.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 144,
"cds_start": 393,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599990.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.381G>A",
"hgvs_p": "p.Thr127Thr",
"transcript": "ENST00000930899.1",
"protein_id": "ENSP00000600958.1",
"transcript_support_level": null,
"aa_start": 127,
"aa_end": null,
"aa_length": 140,
"cds_start": 381,
"cds_end": null,
"cds_length": 423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930899.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.336G>A",
"hgvs_p": "p.Thr112Thr",
"transcript": "ENST00000869561.1",
"protein_id": "ENSP00000539620.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 125,
"cds_start": 336,
"cds_end": null,
"cds_length": 378,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869561.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.327G>A",
"hgvs_p": "p.Thr109Thr",
"transcript": "ENST00000960449.1",
"protein_id": "ENSP00000630508.1",
"transcript_support_level": null,
"aa_start": 109,
"aa_end": null,
"aa_length": 122,
"cds_start": 327,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960449.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.279G>A",
"hgvs_p": "p.Thr93Thr",
"transcript": "ENST00000930898.1",
"protein_id": "ENSP00000600957.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 106,
"cds_start": 279,
"cds_end": null,
"cds_length": 321,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930898.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Thr91Thr",
"transcript": "NM_021575.5",
"protein_id": "NP_067586.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 104,
"cds_start": 273,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021575.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.273G>A",
"hgvs_p": "p.Thr91Thr",
"transcript": "ENST00000601649.1",
"protein_id": "ENSP00000470898.1",
"transcript_support_level": 3,
"aa_start": 91,
"aa_end": null,
"aa_length": 104,
"cds_start": 273,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601649.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.237G>A",
"hgvs_p": "p.Thr79Thr",
"transcript": "ENST00000593442.5",
"protein_id": "ENSP00000472080.1",
"transcript_support_level": 2,
"aa_start": 79,
"aa_end": null,
"aa_length": 92,
"cds_start": 237,
"cds_end": null,
"cds_length": 279,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593442.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.177G>A",
"hgvs_p": "p.Thr59Thr",
"transcript": "ENST00000930901.1",
"protein_id": "ENSP00000600960.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 72,
"cds_start": 177,
"cds_end": null,
"cds_length": 219,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930901.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.123G>A",
"hgvs_p": "p.Thr41Thr",
"transcript": "ENST00000930900.1",
"protein_id": "ENSP00000600959.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 54,
"cds_start": 123,
"cds_end": null,
"cds_length": 165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930900.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.477G>A",
"hgvs_p": "p.Thr159Thr",
"transcript": "XM_011526423.3",
"protein_id": "XP_011524725.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 172,
"cds_start": 477,
"cds_end": null,
"cds_length": 519,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526423.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Thr145Thr",
"transcript": "XM_011526424.4",
"protein_id": "XP_011524726.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 158,
"cds_start": 435,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526424.4"
},
{
"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": "AP2S1",
"gene_hgnc_id": 565,
"hgvs_c": "n.312G>A",
"hgvs_p": null,
"transcript": "ENST00000598027.1",
"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": "retained_intron",
"feature": "ENST00000598027.1"
}
],
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"dbsnp": "rs762267195",
"frequency_reference_population": 0.000013630461,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000116295,
"gnomad_genomes_af": 0.0000328446,
"gnomad_exomes_ac": 17,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.23000000417232513,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.23,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.676,
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001301076.3",
"gene_symbol": "AP2S1",
"hgnc_id": 565,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.435G>A",
"hgvs_p": "p.Thr145Thr"
}
],
"clinvar_disease": "Familial hypocalciuric hypercalcemia 3,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not provided|Familial hypocalciuric hypercalcemia 3",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}