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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: 19-55174642-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=55174642&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYT5",
"hgnc_id": 11513,
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"inheritance_mode": "AR",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_003180.3",
"verdict": "Uncertain_significance"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DNAAF3-AS1",
"hgnc_id": 55292,
"hgvs_c": "n.1187-2442C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 4,
"score": 4,
"transcript": "ENST00000591665.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 45,
"alphamissense_prediction": null,
"alphamissense_score": 0.1908,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": -0.06,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.867158055305481,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 1161,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_003180.3",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000354308.8",
"protein_coding": true,
"protein_id": "NP_003171.2",
"strand": false,
"transcript": "NM_003180.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 1053,
"cds_end": null,
"cds_length": 1161,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000354308.8",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003180.3",
"protein_coding": true,
"protein_id": "ENSP00000346265.2",
"strand": false,
"transcript": "ENST00000354308.8",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 1898,
"cds_end": null,
"cds_length": 1161,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000537500.5",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000442896.1",
"strand": false,
"transcript": "ENST00000537500.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1050,
"cds_end": null,
"cds_length": 1161,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868688.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538747.1",
"strand": false,
"transcript": "ENST00000868688.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2354,
"cdna_start": 1646,
"cds_end": null,
"cds_length": 1161,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948087.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618146.1",
"strand": false,
"transcript": "ENST00000948087.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1789,
"cdna_start": 1075,
"cds_end": null,
"cds_length": 1158,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868679.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Val278Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538739.1",
"strand": false,
"transcript": "ENST00000868679.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2806,
"cdna_start": 2092,
"cds_end": null,
"cds_length": 1158,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000868681.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Val278Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538740.1",
"strand": false,
"transcript": "ENST00000868681.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1739,
"cdna_start": 1031,
"cds_end": null,
"cds_length": 1158,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868689.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Val278Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538748.1",
"strand": false,
"transcript": "ENST00000868689.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 384,
"aa_ref": "V",
"aa_start": 277,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1654,
"cdna_start": 941,
"cds_end": null,
"cds_length": 1155,
"cds_start": 829,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868686.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.829G>A",
"hgvs_p": "p.Val277Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538746.1",
"strand": false,
"transcript": "ENST00000868686.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 383,
"aa_ref": "V",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1653,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1152,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000868684.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Val276Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000538743.1",
"strand": false,
"transcript": "ENST00000868684.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 382,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1149,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001297774.2",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001284703.1",
"strand": false,
"transcript": "NM_001297774.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 382,
"aa_ref": "V",
"aa_start": 275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3619,
"cdna_start": 1008,
"cds_end": null,
"cds_length": 1149,
"cds_start": 823,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000590851.5",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.823G>A",
"hgvs_p": "p.Val275Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465576.1",
"strand": false,
"transcript": "ENST00000590851.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 66,
"aa_ref": "V",
"aa_start": 11,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 329,
"cdna_start": 159,
"cds_end": null,
"cds_length": 201,
"cds_start": 31,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000587067.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.31G>A",
"hgvs_p": "p.Val11Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465304.1",
"strand": false,
"transcript": "ENST00000587067.1",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3564,
"cdna_start": 950,
"cds_end": null,
"cds_length": 1161,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_006723339.4",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723402.1",
"strand": false,
"transcript": "XM_006723339.4",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3646,
"cdna_start": 1032,
"cds_end": null,
"cds_length": 1161,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_017027175.2",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882664.1",
"strand": false,
"transcript": "XM_017027175.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 386,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3799,
"cdna_start": 1185,
"cds_end": null,
"cds_length": 1161,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047439256.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295212.1",
"strand": false,
"transcript": "XM_047439256.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 385,
"aa_ref": "V",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3643,
"cdna_start": 1029,
"cds_end": null,
"cds_length": 1158,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "XM_047439257.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.832G>A",
"hgvs_p": "p.Val278Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047295213.1",
"strand": false,
"transcript": "XM_047439257.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 383,
"aa_ref": "V",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 969,
"cds_end": null,
"cds_length": 1152,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_006723341.4",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "c.826G>A",
"hgvs_p": "p.Val276Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006723404.1",
"strand": false,
"transcript": "XM_006723341.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 931,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000588305.5",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "n.716G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000588305.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 512,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000592956.1",
"gene_hgnc_id": 11513,
"gene_symbol": "SYT5",
"hgvs_c": "n.300G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000592956.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1643,
"cdna_start": null,
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}