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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: 3-48479244-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=48479244&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SHISA5",
"hgnc_id": 30376,
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Val83Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_016479.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 2,
"alphamissense_prediction": null,
"alphamissense_score": 0.0918,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.68,
"chr": "3",
"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": 0.04501467943191528,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 240,
"aa_ref": "V",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 327,
"cds_end": null,
"cds_length": 723,
"cds_start": 247,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_016479.6",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Val83Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000296444.7",
"protein_coding": true,
"protein_id": "NP_057563.3",
"strand": false,
"transcript": "NM_016479.6",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 240,
"aa_ref": "V",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2034,
"cdna_start": 327,
"cds_end": null,
"cds_length": 723,
"cds_start": 247,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000296444.7",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Val83Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016479.6",
"protein_coding": true,
"protein_id": "ENSP00000296444.2",
"strand": false,
"transcript": "ENST00000296444.7",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 242,
"aa_ref": "V",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 295,
"cds_end": null,
"cds_length": 729,
"cds_start": 247,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949300.1",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Val83Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619359.1",
"strand": false,
"transcript": "ENST00000949300.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 239,
"aa_ref": "V",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2045,
"cdna_start": 341,
"cds_end": null,
"cds_length": 720,
"cds_start": 247,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000929322.1",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Val83Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000599381.1",
"strand": false,
"transcript": "ENST00000929322.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 239,
"aa_ref": "V",
"aa_start": 83,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2056,
"cdna_start": 352,
"cds_end": null,
"cds_length": 720,
"cds_start": 247,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949298.1",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.247G>A",
"hgvs_p": "p.Val83Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619357.1",
"strand": false,
"transcript": "ENST00000949298.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 233,
"aa_ref": "V",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2013,
"cdna_start": 306,
"cds_end": null,
"cds_length": 702,
"cds_start": 226,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001272065.3",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258994.1",
"strand": false,
"transcript": "NM_001272065.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 233,
"aa_ref": "V",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1933,
"cdna_start": 261,
"cds_end": null,
"cds_length": 702,
"cds_start": 226,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000443308.6",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000395373.2",
"strand": false,
"transcript": "ENST00000443308.6",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 232,
"aa_ref": "V",
"aa_start": 76,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2000,
"cdna_start": 299,
"cds_end": null,
"cds_length": 699,
"cds_start": 226,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000949299.1",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.226G>A",
"hgvs_p": "p.Val76Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619358.1",
"strand": false,
"transcript": "ENST00000949299.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 209,
"aa_ref": "V",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2059,
"cdna_start": 352,
"cds_end": null,
"cds_length": 630,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001272066.2",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Val52Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258995.1",
"strand": false,
"transcript": "NM_001272066.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 209,
"aa_ref": "V",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2266,
"cdna_start": 559,
"cds_end": null,
"cds_length": 630,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001272067.2",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Val52Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258996.1",
"strand": false,
"transcript": "NM_001272067.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 209,
"aa_ref": "V",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2431,
"cdna_start": 724,
"cds_end": null,
"cds_length": 630,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001272068.2",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Val52Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001258997.1",
"strand": false,
"transcript": "NM_001272068.2",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 209,
"aa_ref": "V",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 544,
"cds_end": null,
"cds_length": 630,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000442747.5",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Val52Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408223.1",
"strand": false,
"transcript": "ENST00000442747.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 209,
"aa_ref": "V",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2081,
"cdna_start": 368,
"cds_end": null,
"cds_length": 630,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000444115.5",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Val52Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407957.1",
"strand": false,
"transcript": "ENST00000444115.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 209,
"aa_ref": "V",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2385,
"cdna_start": 600,
"cds_end": null,
"cds_length": 630,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000619810.4",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Val52Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000484992.1",
"strand": false,
"transcript": "ENST00000619810.4",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 111,
"aa_ref": "V",
"aa_start": 52,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 575,
"cdna_start": 392,
"cds_end": null,
"cds_length": 337,
"cds_start": 154,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000417841.5",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "c.154G>A",
"hgvs_p": "p.Val52Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412509.1",
"strand": false,
"transcript": "ENST00000417841.5",
"transcript_support_level": 4
},
{
"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": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000415268.1",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "n.*193G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400498.1",
"strand": false,
"transcript": "ENST00000415268.1",
"transcript_support_level": 4
},
{
"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": 2306,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000417962.5",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "n.*458G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407330.1",
"strand": false,
"transcript": "ENST00000417962.5",
"transcript_support_level": 2
},
{
"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": 884,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000424965.5",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "n.247G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000412811.1",
"strand": false,
"transcript": "ENST00000424965.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 713,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000486344.5",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "n.316G>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": "ENST00000486344.5",
"transcript_support_level": 2
},
{
"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": 556,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000415268.1",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "n.*193G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000400498.1",
"strand": false,
"transcript": "ENST00000415268.1",
"transcript_support_level": 4
},
{
"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": 2306,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000417962.5",
"gene_hgnc_id": 30376,
"gene_symbol": "SHISA5",
"hgvs_c": "n.*458G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000407330.1",
"strand": false,
"transcript": "ENST00000417962.5",
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}
],
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"effect": "missense_variant",
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"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Benign",
"phylop100way_score": -2.479,
"pos": 48479244,
"ref": "C",
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"splice_score_selected": null,
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}
]
}