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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: 19-46838542-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46838542&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46838542,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001301076.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.334A>T",
"hgvs_p": "p.Thr112Ser",
"transcript": "NM_004069.6",
"protein_id": "NP_004060.2",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 142,
"cds_start": 334,
"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": "S",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.334A>T",
"hgvs_p": "p.Thr112Ser",
"transcript": "ENST00000263270.11",
"protein_id": "ENSP00000263270.6",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 142,
"cds_start": 334,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.274A>T",
"hgvs_p": "p.Thr92Ser",
"transcript": "ENST00000597020.5",
"protein_id": "ENSP00000470235.1",
"transcript_support_level": 1,
"aa_start": 92,
"aa_end": null,
"aa_length": 122,
"cds_start": 274,
"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.88A>T",
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.451A>T",
"hgvs_p": "p.Thr151Ser",
"transcript": "ENST00000960448.1",
"protein_id": "ENSP00000630507.1",
"transcript_support_level": null,
"aa_start": 151,
"aa_end": null,
"aa_length": 181,
"cds_start": 451,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.382A>T",
"hgvs_p": "p.Thr128Ser",
"transcript": "NM_001301076.3",
"protein_id": "NP_001288005.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 158,
"cds_start": 382,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.382A>T",
"hgvs_p": "p.Thr128Ser",
"transcript": "ENST00000601498.5",
"protein_id": "ENSP00000470176.1",
"transcript_support_level": 2,
"aa_start": 128,
"aa_end": null,
"aa_length": 158,
"cds_start": 382,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.376A>T",
"hgvs_p": "p.Thr126Ser",
"transcript": "NM_001301078.3",
"protein_id": "NP_001288007.1",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 156,
"cds_start": 376,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.376A>T",
"hgvs_p": "p.Thr126Ser",
"transcript": "ENST00000352203.8",
"protein_id": "ENSP00000263271.6",
"transcript_support_level": 2,
"aa_start": 126,
"aa_end": null,
"aa_length": 156,
"cds_start": 376,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.340A>T",
"hgvs_p": "p.Thr114Ser",
"transcript": "NM_001301081.3",
"protein_id": "NP_001288010.1",
"transcript_support_level": null,
"aa_start": 114,
"aa_end": null,
"aa_length": 144,
"cds_start": 340,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.340A>T",
"hgvs_p": "p.Thr114Ser",
"transcript": "ENST00000599990.5",
"protein_id": "ENSP00000471340.1",
"transcript_support_level": 2,
"aa_start": 114,
"aa_end": null,
"aa_length": 144,
"cds_start": 340,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.328A>T",
"hgvs_p": "p.Thr110Ser",
"transcript": "ENST00000930899.1",
"protein_id": "ENSP00000600958.1",
"transcript_support_level": null,
"aa_start": 110,
"aa_end": null,
"aa_length": 140,
"cds_start": 328,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.283A>T",
"hgvs_p": "p.Thr95Ser",
"transcript": "ENST00000869561.1",
"protein_id": "ENSP00000539620.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 125,
"cds_start": 283,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.274A>T",
"hgvs_p": "p.Thr92Ser",
"transcript": "ENST00000960449.1",
"protein_id": "ENSP00000630508.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 122,
"cds_start": 274,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.226A>T",
"hgvs_p": "p.Thr76Ser",
"transcript": "ENST00000930898.1",
"protein_id": "ENSP00000600957.1",
"transcript_support_level": null,
"aa_start": 76,
"aa_end": null,
"aa_length": 106,
"cds_start": 226,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.220A>T",
"hgvs_p": "p.Thr74Ser",
"transcript": "NM_021575.5",
"protein_id": "NP_067586.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 104,
"cds_start": 220,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.220A>T",
"hgvs_p": "p.Thr74Ser",
"transcript": "ENST00000601649.1",
"protein_id": "ENSP00000470898.1",
"transcript_support_level": 3,
"aa_start": 74,
"aa_end": null,
"aa_length": 104,
"cds_start": 220,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.184A>T",
"hgvs_p": "p.Thr62Ser",
"transcript": "ENST00000593442.5",
"protein_id": "ENSP00000472080.1",
"transcript_support_level": 2,
"aa_start": 62,
"aa_end": null,
"aa_length": 92,
"cds_start": 184,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.124A>T",
"hgvs_p": "p.Thr42Ser",
"transcript": "ENST00000930901.1",
"protein_id": "ENSP00000600960.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 72,
"cds_start": 124,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.70A>T",
"hgvs_p": "p.Thr24Ser",
"transcript": "ENST00000930900.1",
"protein_id": "ENSP00000600959.1",
"transcript_support_level": null,
"aa_start": 24,
"aa_end": null,
"aa_length": 54,
"cds_start": 70,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.424A>T",
"hgvs_p": "p.Thr142Ser",
"transcript": "XM_011526423.3",
"protein_id": "XP_011524725.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 172,
"cds_start": 424,
"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": "S",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_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.382A>T",
"hgvs_p": "p.Thr128Ser",
"transcript": "XM_011526424.4",
"protein_id": "XP_011524726.1",
"transcript_support_level": null,
"aa_start": 128,
"aa_end": null,
"aa_length": 158,
"cds_start": 382,
"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.259A>T",
"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": "rs779087525",
"frequency_reference_population": 0.0000068151967,
"hom_count_reference_population": 0,
"allele_count_reference_population": 11,
"gnomad_exomes_af": 0.00000684055,
"gnomad_genomes_af": 0.0000065716,
"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1933322250843048,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.128,
"revel_prediction": "Benign",
"alphamissense_score": 0.0916,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.29,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 5.755,
"phylop100way_prediction": "Uncertain_significance",
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001301076.3",
"gene_symbol": "AP2S1",
"hgnc_id": 565,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.382A>T",
"hgvs_p": "p.Thr128Ser"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}