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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: 14-31080626-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=31080626&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 31080626,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "ENST00000542754.7",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "ENST00000334725.8",
"protein_id": "ENSP00000334484.4",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 149,
"cds_start": 348,
"cds_end": null,
"cds_length": 450,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 1122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.306+42G>T",
"hgvs_p": null,
"transcript": "NM_001128126.3",
"protein_id": "NP_001121598.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": "ENST00000542754.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.306+42G>T",
"hgvs_p": null,
"transcript": "ENST00000542754.7",
"protein_id": "ENSP00000438170.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
"cds_end": null,
"cds_length": 435,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4060,
"mane_select": "NM_001128126.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.295-2905G>T",
"hgvs_p": null,
"transcript": "ENST00000216366.9",
"protein_id": "ENSP00000216366.5",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 132,
"cds_start": -4,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2034,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "ENST00000313566.11",
"protein_id": "ENSP00000322508.8",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 173,
"cds_start": 348,
"cds_end": null,
"cds_length": 522,
"cdna_start": 445,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "NM_007077.5",
"protein_id": "NP_009008.2",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 159,
"cds_start": 348,
"cds_end": null,
"cds_length": 480,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1610,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "ENST00000554345.6",
"protein_id": "ENSP00000450768.2",
"transcript_support_level": 3,
"aa_start": 116,
"aa_end": null,
"aa_length": 159,
"cds_start": 348,
"cds_end": null,
"cds_length": 480,
"cdna_start": 556,
"cdna_end": null,
"cdna_length": 1608,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "NM_001254727.2",
"protein_id": "NP_001241656.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 149,
"cds_start": 348,
"cds_end": null,
"cds_length": 450,
"cdna_start": 558,
"cdna_end": null,
"cdna_length": 1732,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "ENST00000673317.1",
"protein_id": "ENSP00000500890.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 135,
"cds_start": 348,
"cds_end": null,
"cds_length": 408,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 2562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "XM_005267293.6",
"protein_id": "XP_005267350.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 159,
"cds_start": 348,
"cds_end": null,
"cds_length": 480,
"cdna_start": 1130,
"cdna_end": null,
"cdna_length": 2182,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "XM_011536371.4",
"protein_id": "XP_011534673.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 159,
"cds_start": 348,
"cds_end": null,
"cds_length": 480,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 1646,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.348G>T",
"hgvs_p": "p.Met116Ile",
"transcript": "XM_011536372.4",
"protein_id": "XP_011534674.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 159,
"cds_start": 348,
"cds_end": null,
"cds_length": 480,
"cdna_start": 1094,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "n.348G>T",
"hgvs_p": null,
"transcript": "ENST00000672143.1",
"protein_id": "ENSP00000500016.1",
"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": 2694,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.306+42G>T",
"hgvs_p": null,
"transcript": "NM_001254728.2",
"protein_id": "NP_001241657.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"cdna_start": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.306+42G>T",
"hgvs_p": null,
"transcript": "NM_001254729.2",
"protein_id": "NP_001241658.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
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"cds_length": 435,
"cdna_start": null,
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"cdna_length": 4114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.306+42G>T",
"hgvs_p": null,
"transcript": "ENST00000555417.6",
"protein_id": "ENSP00000451609.2",
"transcript_support_level": 3,
"aa_start": null,
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"cds_start": -4,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.306+42G>T",
"hgvs_p": null,
"transcript": "ENST00000556232.8",
"protein_id": "ENSP00000451918.3",
"transcript_support_level": 4,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1257,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.306+42G>T",
"hgvs_p": null,
"transcript": "ENST00000557346.6",
"protein_id": "ENSP00000451479.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 144,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 699,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.306+42G>T",
"hgvs_p": null,
"transcript": "ENST00000713810.1",
"protein_id": "ENSP00000519116.1",
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},
{
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],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.295-4143G>T",
"hgvs_p": null,
"transcript": "NM_001254726.2",
"protein_id": "NP_001241655.1",
"transcript_support_level": null,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.295-4143G>T",
"hgvs_p": null,
"transcript": "ENST00000554609.6",
"protein_id": "ENSP00000452383.2",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 6,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.*10+42G>T",
"hgvs_p": null,
"transcript": "ENST00000713808.1",
"protein_id": "ENSP00000519114.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 130,
"cds_start": -4,
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"cds_length": 393,
"cdna_start": null,
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"cdna_length": 1316,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "AP4S1",
"gene_hgnc_id": 575,
"hgvs_c": "c.298+7649G>T",
"hgvs_p": null,
"transcript": "ENST00000713807.1",
"protein_id": "ENSP00000519113.1",
"transcript_support_level": null,
"aa_start": null,
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"aa_length": 102,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1234,
"mane_select": null,
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},
{
"aa_ref": null,
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}
],
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"dbsnp": "rs74807133",
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"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.84372e-7,
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"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0641283392906189,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.049,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.69,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.079,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"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": "ENST00000542754.7",
"gene_symbol": "AP4S1",
"hgnc_id": 575,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.306+42G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}