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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: 7-106099254-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=106099254&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SYPL1",
"hgnc_id": 11507,
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Cys77Tyr",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_001381910.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 953,
"alphamissense_prediction": null,
"alphamissense_score": 0.9875,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Intellectual disability",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.06164848804473877,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 241,
"aa_ref": "C",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 202,
"cds_end": null,
"cds_length": 726,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_182715.4",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Cys33Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000455385.7",
"protein_coding": true,
"protein_id": "NP_874384.1",
"strand": false,
"transcript": "NM_182715.4",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 241,
"aa_ref": "C",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2130,
"cdna_start": 202,
"cds_end": null,
"cds_length": 726,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000455385.7",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Cys33Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_182715.4",
"protein_coding": true,
"protein_id": "ENSP00000388336.2",
"strand": false,
"transcript": "ENST00000455385.7",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 259,
"aa_ref": "C",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 199,
"cds_end": null,
"cds_length": 780,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000011473.6",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Cys51Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000011473.2",
"strand": false,
"transcript": "ENST00000011473.6",
"transcript_support_level": 1
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 285,
"aa_ref": "C",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2205,
"cdna_start": 277,
"cds_end": null,
"cds_length": 858,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001381910.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Cys77Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368839.1",
"strand": false,
"transcript": "NM_001381910.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 285,
"aa_ref": "C",
"aa_start": 77,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1027,
"cdna_start": 290,
"cds_end": null,
"cds_length": 858,
"cds_start": 230,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000706299.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.230G>A",
"hgvs_p": "p.Cys77Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516340.1",
"strand": false,
"transcript": "ENST00000706299.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 267,
"aa_ref": "C",
"aa_start": 59,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 280,
"cds_end": null,
"cds_length": 804,
"cds_start": 176,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001381911.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.176G>A",
"hgvs_p": "p.Cys59Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368840.1",
"strand": false,
"transcript": "NM_001381911.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 259,
"aa_ref": "C",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2127,
"cdna_start": 199,
"cds_end": null,
"cds_length": 780,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_006754.5",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Cys51Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_006745.1",
"strand": false,
"transcript": "NM_006754.5",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 242,
"aa_ref": "C",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2249,
"cdna_start": 199,
"cds_end": null,
"cds_length": 729,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001381918.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Cys51Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368847.1",
"strand": false,
"transcript": "NM_001381918.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 242,
"aa_ref": "C",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2233,
"cdna_start": 199,
"cds_end": null,
"cds_length": 729,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001381919.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Cys51Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368848.1",
"strand": false,
"transcript": "NM_001381919.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 242,
"aa_ref": "C",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1077,
"cdna_start": 172,
"cds_end": null,
"cds_length": 729,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000706298.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Cys51Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516339.1",
"strand": false,
"transcript": "ENST00000706298.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 237,
"aa_ref": "C",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2118,
"cdna_start": 190,
"cds_end": null,
"cds_length": 714,
"cds_start": 86,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001381912.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.86G>A",
"hgvs_p": "p.Cys29Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368841.1",
"strand": false,
"transcript": "NM_001381912.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 224,
"aa_ref": "C",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 202,
"cds_end": null,
"cds_length": 675,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001381920.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Cys33Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368849.1",
"strand": false,
"transcript": "NM_001381920.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 224,
"aa_ref": "C",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2236,
"cdna_start": 202,
"cds_end": null,
"cds_length": 675,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_001381921.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Cys33Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368850.1",
"strand": false,
"transcript": "NM_001381921.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 224,
"aa_ref": "C",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1193,
"cdna_start": 111,
"cds_end": null,
"cds_length": 675,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000470347.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Cys33Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000419070.1",
"strand": false,
"transcript": "ENST00000470347.1",
"transcript_support_level": 3
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 196,
"aa_ref": "C",
"aa_start": 51,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1938,
"cdna_start": 199,
"cds_end": null,
"cds_length": 591,
"cds_start": 152,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001381913.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.152G>A",
"hgvs_p": "p.Cys51Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368842.1",
"strand": false,
"transcript": "NM_001381913.1",
"transcript_support_level": null
},
{
"aa_alt": "Y",
"aa_end": null,
"aa_length": 178,
"aa_ref": "C",
"aa_start": 33,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1946,
"cdna_start": 202,
"cds_end": null,
"cds_length": 537,
"cds_start": 98,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000895750.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.98G>A",
"hgvs_p": "p.Cys33Tyr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000565809.1",
"strand": false,
"transcript": "ENST00000895750.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 130,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1797,
"cdna_start": null,
"cds_end": null,
"cds_length": 393,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001381915.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.70-6117G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368844.1",
"strand": false,
"transcript": "NM_001381915.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 113,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1919,
"cdna_start": null,
"cds_end": null,
"cds_length": 342,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001381916.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.70-6117G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368845.1",
"strand": false,
"transcript": "NM_001381916.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 109,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2005,
"cdna_start": null,
"cds_end": null,
"cds_length": 330,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001381917.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "c.-202-1357G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001368846.1",
"strand": false,
"transcript": "NM_001381917.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 835,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000634737.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "n.32G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000489167.1",
"strand": false,
"transcript": "ENST00000634737.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1930,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000706297.1",
"gene_hgnc_id": 11507,
"gene_symbol": "SYPL1",
"hgvs_c": "n.98G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000516338.1",
"strand": false,
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}