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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: 6-158084056-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=158084056&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 158084056,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "ENST00000355585.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.3090A>G",
"hgvs_p": "p.Gly1030Gly",
"transcript": "NM_003898.4",
"protein_id": "NP_003889.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3090,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 7402,
"mane_select": "ENST00000355585.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.3090A>G",
"hgvs_p": "p.Gly1030Gly",
"transcript": "ENST00000355585.9",
"protein_id": "ENSP00000347792.4",
"transcript_support_level": 1,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1496,
"cds_start": 3090,
"cds_end": null,
"cds_length": 4491,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 7402,
"mane_select": "NM_003898.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.3090A>G",
"hgvs_p": "p.Gly1030Gly",
"transcript": "ENST00000640338.1",
"protein_id": "ENSP00000492532.1",
"transcript_support_level": 1,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 3098,
"cdna_end": null,
"cdna_length": 3959,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.2379A>G",
"hgvs_p": "p.Gly793Gly",
"transcript": "ENST00000638626.1",
"protein_id": "ENSP00000492369.1",
"transcript_support_level": 1,
"aa_start": 793,
"aa_end": null,
"aa_length": 1259,
"cds_start": 2379,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3119,
"cdna_end": null,
"cdna_length": 7332,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.1119A>G",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000367122.6",
"protein_id": "ENSP00000356089.3",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 839,
"cds_start": 1119,
"cds_end": null,
"cds_length": 2520,
"cdna_start": 1529,
"cdna_end": null,
"cdna_length": 3029,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.3090A>G",
"hgvs_p": "p.Gly1030Gly",
"transcript": "NM_001410947.1",
"protein_id": "NP_001397876.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1288,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3867,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 7552,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.2379A>G",
"hgvs_p": "p.Gly793Gly",
"transcript": "NM_001178088.2",
"protein_id": "NP_001171559.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 1259,
"cds_start": 2379,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 3074,
"cdna_end": null,
"cdna_length": 7287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.3090A>G",
"hgvs_p": "p.Gly1030Gly",
"transcript": "XM_011536224.2",
"protein_id": "XP_011534526.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1451,
"cds_start": 3090,
"cds_end": null,
"cds_length": 4356,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 7267,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.2931A>G",
"hgvs_p": "p.Gly977Gly",
"transcript": "XM_047419470.1",
"protein_id": "XP_047275426.1",
"transcript_support_level": null,
"aa_start": 977,
"aa_end": null,
"aa_length": 1443,
"cds_start": 2931,
"cds_end": null,
"cds_length": 4332,
"cdna_start": 3157,
"cdna_end": null,
"cdna_length": 7370,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.2379A>G",
"hgvs_p": "p.Gly793Gly",
"transcript": "XM_047419472.1",
"protein_id": "XP_047275428.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 1259,
"cds_start": 2379,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 2982,
"cdna_end": null,
"cdna_length": 7195,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.2379A>G",
"hgvs_p": "p.Gly793Gly",
"transcript": "XM_047419473.1",
"protein_id": "XP_047275429.1",
"transcript_support_level": null,
"aa_start": 793,
"aa_end": null,
"aa_length": 1259,
"cds_start": 2379,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 2415,
"cdna_end": null,
"cdna_length": 6628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.3090A>G",
"hgvs_p": "p.Gly1030Gly",
"transcript": "XM_047419475.1",
"protein_id": "XP_047275431.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 3858,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.2097A>G",
"hgvs_p": "p.Gly699Gly",
"transcript": "XM_005267198.5",
"protein_id": "XP_005267255.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2247,
"cdna_end": null,
"cdna_length": 6460,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.2097A>G",
"hgvs_p": "p.Gly699Gly",
"transcript": "XM_011536226.4",
"protein_id": "XP_011534528.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 1165,
"cds_start": 2097,
"cds_end": null,
"cds_length": 3498,
"cdna_start": 2278,
"cdna_end": null,
"cdna_length": 6491,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.3090A>G",
"hgvs_p": "p.Gly1030Gly",
"transcript": "XM_011536227.3",
"protein_id": "XP_011534529.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1158,
"cds_start": 3090,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 3189,
"cdna_end": null,
"cdna_length": 3734,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.1941A>G",
"hgvs_p": "p.Gly647Gly",
"transcript": "XM_011536228.4",
"protein_id": "XP_011534530.1",
"transcript_support_level": null,
"aa_start": 647,
"aa_end": null,
"aa_length": 1113,
"cds_start": 1941,
"cds_end": null,
"cds_length": 3342,
"cdna_start": 2051,
"cdna_end": null,
"cdna_length": 6264,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "c.1329A>G",
"hgvs_p": "p.Gly443Gly",
"transcript": "XM_005267200.2",
"protein_id": "XP_005267257.1",
"transcript_support_level": null,
"aa_start": 443,
"aa_end": null,
"aa_length": 909,
"cds_start": 1329,
"cds_end": null,
"cds_length": 2730,
"cdna_start": 2625,
"cdna_end": null,
"cdna_length": 6838,
"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": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"hgvs_c": "n.2200A>G",
"hgvs_p": null,
"transcript": "ENST00000367112.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SYNJ2",
"gene_hgnc_id": 11504,
"dbsnp": "rs1744173",
"frequency_reference_population": 0.839198,
"hom_count_reference_population": 575076,
"allele_count_reference_population": 1354390,
"gnomad_exomes_af": 0.837966,
"gnomad_genomes_af": 0.851036,
"gnomad_exomes_ac": 1224956,
"gnomad_genomes_ac": 129434,
"gnomad_exomes_homalt": 519074,
"gnomad_genomes_homalt": 56002,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9200000166893005,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.92,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.148,
"phylop100way_prediction": "Benign",
"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": -13,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -13,
"benign_score": 13,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000355585.9",
"gene_symbol": "SYNJ2",
"hgnc_id": 11504,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3090A>G",
"hgvs_p": "p.Gly1030Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}