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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: 19-46838532-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=46838532&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 46838532,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001301076.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"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.344A>G",
"hgvs_p": "p.Asp115Gly",
"transcript": "NM_004069.6",
"protein_id": "NP_004060.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 142,
"cds_start": 344,
"cds_end": null,
"cds_length": 429,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 789,
"mane_select": "ENST00000263270.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004069.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.344A>G",
"hgvs_p": "p.Asp115Gly",
"transcript": "ENST00000263270.11",
"protein_id": "ENSP00000263270.6",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 142,
"cds_start": 344,
"cds_end": null,
"cds_length": 429,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 789,
"mane_select": "NM_004069.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263270.11"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "ENST00000597020.5",
"protein_id": "ENSP00000470235.1",
"transcript_support_level": 1,
"aa_start": 95,
"aa_end": null,
"aa_length": 122,
"cds_start": 284,
"cds_end": null,
"cds_length": 369,
"cdna_start": 347,
"cdna_end": null,
"cdna_length": 707,
"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.98A>G",
"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": 458,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000600964.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.461A>G",
"hgvs_p": "p.Asp154Gly",
"transcript": "ENST00000960448.1",
"protein_id": "ENSP00000630507.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 181,
"cds_start": 461,
"cds_end": null,
"cds_length": 546,
"cdna_start": 561,
"cdna_end": null,
"cdna_length": 925,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960448.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.392A>G",
"hgvs_p": "p.Asp131Gly",
"transcript": "NM_001301076.3",
"protein_id": "NP_001288005.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 158,
"cds_start": 392,
"cds_end": null,
"cds_length": 477,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 887,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301076.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.392A>G",
"hgvs_p": "p.Asp131Gly",
"transcript": "ENST00000601498.5",
"protein_id": "ENSP00000470176.1",
"transcript_support_level": 2,
"aa_start": 131,
"aa_end": null,
"aa_length": 158,
"cds_start": 392,
"cds_end": null,
"cds_length": 477,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 898,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601498.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "NM_001301078.3",
"protein_id": "NP_001288007.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 156,
"cds_start": 386,
"cds_end": null,
"cds_length": 471,
"cdna_start": 466,
"cdna_end": null,
"cdna_length": 831,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301078.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.386A>G",
"hgvs_p": "p.Asp129Gly",
"transcript": "ENST00000352203.8",
"protein_id": "ENSP00000263271.6",
"transcript_support_level": 2,
"aa_start": 129,
"aa_end": null,
"aa_length": 156,
"cds_start": 386,
"cds_end": null,
"cds_length": 471,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 793,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352203.8"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.350A>G",
"hgvs_p": "p.Asp117Gly",
"transcript": "NM_001301081.3",
"protein_id": "NP_001288010.1",
"transcript_support_level": null,
"aa_start": 117,
"aa_end": null,
"aa_length": 144,
"cds_start": 350,
"cds_end": null,
"cds_length": 435,
"cdna_start": 532,
"cdna_end": null,
"cdna_length": 897,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001301081.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.350A>G",
"hgvs_p": "p.Asp117Gly",
"transcript": "ENST00000599990.5",
"protein_id": "ENSP00000471340.1",
"transcript_support_level": 2,
"aa_start": 117,
"aa_end": null,
"aa_length": 144,
"cds_start": 350,
"cds_end": null,
"cds_length": 435,
"cdna_start": 455,
"cdna_end": null,
"cdna_length": 829,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599990.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.338A>G",
"hgvs_p": "p.Asp113Gly",
"transcript": "ENST00000930899.1",
"protein_id": "ENSP00000600958.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 140,
"cds_start": 338,
"cds_end": null,
"cds_length": 423,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930899.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.293A>G",
"hgvs_p": "p.Asp98Gly",
"transcript": "ENST00000869561.1",
"protein_id": "ENSP00000539620.1",
"transcript_support_level": null,
"aa_start": 98,
"aa_end": null,
"aa_length": 125,
"cds_start": 293,
"cds_end": null,
"cds_length": 378,
"cdna_start": 373,
"cdna_end": null,
"cdna_length": 732,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869561.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.284A>G",
"hgvs_p": "p.Asp95Gly",
"transcript": "ENST00000960449.1",
"protein_id": "ENSP00000630508.1",
"transcript_support_level": null,
"aa_start": 95,
"aa_end": null,
"aa_length": 122,
"cds_start": 284,
"cds_end": null,
"cds_length": 369,
"cdna_start": 369,
"cdna_end": null,
"cdna_length": 739,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960449.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.236A>G",
"hgvs_p": "p.Asp79Gly",
"transcript": "ENST00000930898.1",
"protein_id": "ENSP00000600957.1",
"transcript_support_level": null,
"aa_start": 79,
"aa_end": null,
"aa_length": 106,
"cds_start": 236,
"cds_end": null,
"cds_length": 321,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 726,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930898.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.230A>G",
"hgvs_p": "p.Asp77Gly",
"transcript": "NM_021575.5",
"protein_id": "NP_067586.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 104,
"cds_start": 230,
"cds_end": null,
"cds_length": 315,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 675,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021575.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.230A>G",
"hgvs_p": "p.Asp77Gly",
"transcript": "ENST00000601649.1",
"protein_id": "ENSP00000470898.1",
"transcript_support_level": 3,
"aa_start": 77,
"aa_end": null,
"aa_length": 104,
"cds_start": 230,
"cds_end": null,
"cds_length": 315,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 315,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000601649.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.194A>G",
"hgvs_p": "p.Asp65Gly",
"transcript": "ENST00000593442.5",
"protein_id": "ENSP00000472080.1",
"transcript_support_level": 2,
"aa_start": 65,
"aa_end": null,
"aa_length": 92,
"cds_start": 194,
"cds_end": null,
"cds_length": 279,
"cdna_start": 262,
"cdna_end": null,
"cdna_length": 636,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000593442.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.134A>G",
"hgvs_p": "p.Asp45Gly",
"transcript": "ENST00000930901.1",
"protein_id": "ENSP00000600960.1",
"transcript_support_level": null,
"aa_start": 45,
"aa_end": null,
"aa_length": 72,
"cds_start": 134,
"cds_end": null,
"cds_length": 219,
"cdna_start": 175,
"cdna_end": null,
"cdna_length": 540,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930901.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.80A>G",
"hgvs_p": "p.Asp27Gly",
"transcript": "ENST00000930900.1",
"protein_id": "ENSP00000600959.1",
"transcript_support_level": null,
"aa_start": 27,
"aa_end": null,
"aa_length": 54,
"cds_start": 80,
"cds_end": null,
"cds_length": 165,
"cdna_start": 184,
"cdna_end": null,
"cdna_length": 554,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930900.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.434A>G",
"hgvs_p": "p.Asp145Gly",
"transcript": "XM_011526423.3",
"protein_id": "XP_011524725.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 172,
"cds_start": 434,
"cds_end": null,
"cds_length": 519,
"cdna_start": 729,
"cdna_end": null,
"cdna_length": 1094,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011526423.3"
},
{
"aa_ref": "D",
"aa_alt": "G",
"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.392A>G",
"hgvs_p": "p.Asp131Gly",
"transcript": "XM_011526424.4",
"protein_id": "XP_011524726.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 158,
"cds_start": 392,
"cds_end": null,
"cds_length": 477,
"cdna_start": 574,
"cdna_end": null,
"cdna_length": 939,
"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.269A>G",
"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": 355,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000598027.1"
}
],
"gene_symbol": "AP2S1",
"gene_hgnc_id": 565,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.849238395690918,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.473,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9755,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.41,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.771,
"phylop100way_prediction": "Uncertain_significance",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001301076.3",
"gene_symbol": "AP2S1",
"hgnc_id": 565,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.392A>G",
"hgvs_p": "p.Asp131Gly"
}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}