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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: 17-29631398-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=29631398&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"BP4",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SSH2",
"hgnc_id": 30580,
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Glu1266Lys",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -5,
"transcript": "NM_001282129.2",
"verdict": "Likely_benign"
},
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ABHD15-AS1",
"hgnc_id": 49685,
"hgvs_c": "n.153+70699C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 1,
"transcript": "ENST00000581474.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4,BS2",
"acmg_score": -5,
"allele_count_reference_population": 79,
"alphamissense_prediction": null,
"alphamissense_score": 0.1538,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.07,
"chr": "17",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.28365474939346313,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "E",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9484,
"cdna_start": 4024,
"cds_end": null,
"cds_length": 4353,
"cds_start": 3796,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001282129.2",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Glu1266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000540801.6",
"protein_coding": true,
"protein_id": "NP_001269058.1",
"strand": false,
"transcript": "NM_001282129.2",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "E",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 9484,
"cdna_start": 4024,
"cds_end": null,
"cds_length": 4353,
"cds_start": 3796,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000540801.6",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Glu1266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001282129.2",
"protein_coding": true,
"protein_id": "ENSP00000444743.1",
"strand": false,
"transcript": "ENST00000540801.6",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "E",
"aa_start": 1239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9327,
"cdna_start": 3867,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3715,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000269033.7",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Glu1239Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000269033.3",
"strand": false,
"transcript": "ENST00000269033.7",
"transcript_support_level": 1
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1429,
"aa_ref": "E",
"aa_start": 1245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4471,
"cdna_start": 3873,
"cds_end": null,
"cds_length": 4290,
"cds_start": 3733,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000649863.1",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3733G>A",
"hgvs_p": "p.Glu1245Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000497148.1",
"strand": false,
"transcript": "ENST00000649863.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "E",
"aa_start": 1239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9215,
"cdna_start": 3755,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3715,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_033389.3",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Glu1239Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_203747.2",
"strand": false,
"transcript": "NM_033389.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 115,
"aa_ref": "E",
"aa_start": 29,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 493,
"cdna_start": 87,
"cds_end": null,
"cds_length": 348,
"cds_start": 85,
"consequences": [
"missense_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000577991.1",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.85G>A",
"hgvs_p": "p.Glu29Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465703.1",
"strand": false,
"transcript": "ENST00000577991.1",
"transcript_support_level": 2
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1450,
"aa_ref": "E",
"aa_start": 1266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9366,
"cdna_start": 3906,
"cds_end": null,
"cds_length": 4353,
"cds_start": 3796,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "XM_005258058.4",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3796G>A",
"hgvs_p": "p.Glu1266Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258115.1",
"strand": false,
"transcript": "XM_005258058.4",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1430,
"aa_ref": "E",
"aa_start": 1246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9351,
"cdna_start": 3891,
"cds_end": null,
"cds_length": 4293,
"cds_start": 3736,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_005258059.3",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3736G>A",
"hgvs_p": "p.Glu1246Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258116.1",
"strand": false,
"transcript": "XM_005258059.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1423,
"aa_ref": "E",
"aa_start": 1239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9285,
"cdna_start": 3825,
"cds_end": null,
"cds_length": 4272,
"cds_start": 3715,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047436967.1",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3715G>A",
"hgvs_p": "p.Glu1239Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292923.1",
"strand": false,
"transcript": "XM_047436967.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1405,
"aa_ref": "E",
"aa_start": 1221,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9995,
"cdna_start": 4535,
"cds_end": null,
"cds_length": 4218,
"cds_start": 3661,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_011525404.3",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3661G>A",
"hgvs_p": "p.Glu1221Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523706.1",
"strand": false,
"transcript": "XM_011525404.3",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1401,
"aa_ref": "E",
"aa_start": 1217,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9121,
"cdna_start": 3661,
"cds_end": null,
"cds_length": 4206,
"cds_start": 3649,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "XM_006722149.5",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3649G>A",
"hgvs_p": "p.Glu1217Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006722212.1",
"strand": false,
"transcript": "XM_006722149.5",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1394,
"aa_ref": "E",
"aa_start": 1210,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9485,
"cdna_start": 4025,
"cds_end": null,
"cds_length": 4185,
"cds_start": 3628,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "XM_047436968.1",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3628G>A",
"hgvs_p": "p.Glu1210Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292924.1",
"strand": false,
"transcript": "XM_047436968.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "E",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9047,
"cdna_start": 3587,
"cds_end": null,
"cds_length": 4044,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_011525407.1",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3487G>A",
"hgvs_p": "p.Glu1163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011523709.1",
"strand": false,
"transcript": "XM_011525407.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 1347,
"aa_ref": "E",
"aa_start": 1163,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 9056,
"cdna_start": 3596,
"cds_end": null,
"cds_length": 4044,
"cds_start": 3487,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "XM_047436969.1",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.3487G>A",
"hgvs_p": "p.Glu1163Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047292925.1",
"strand": false,
"transcript": "XM_047436969.1",
"transcript_support_level": null
},
{
"aa_alt": "K",
"aa_end": null,
"aa_length": 984,
"aa_ref": "E",
"aa_start": 800,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8107,
"cdna_start": 2647,
"cds_end": null,
"cds_length": 2955,
"cds_start": 2398,
"consequences": [
"missense_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "XM_005258060.4",
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"hgvs_c": "c.2398G>A",
"hgvs_p": "p.Glu800Lys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005258117.1",
"strand": false,
"transcript": "XM_005258060.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 187,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000581474.1",
"gene_hgnc_id": 49685,
"gene_symbol": "ABHD15-AS1",
"hgvs_c": "n.153+70699C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000581474.1",
"transcript_support_level": 5
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs745762993",
"effect": "missense_variant",
"frequency_reference_population": 0.00004894678,
"gene_hgnc_id": 30580,
"gene_symbol": "SSH2",
"gnomad_exomes_ac": 77,
"gnomad_exomes_af": 0.0000526717,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 2,
"gnomad_genomes_af": 0.0000131482,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 4.312,
"pos": 29631398,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.254,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_001282129.2"
}
]
}