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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: 16-68365044-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=68365044&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SMPD3",
"hgnc_id": 14240,
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_018667.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.917,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.18,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.5147615671157837,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5271,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_018667.4",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000219334.10",
"protein_coding": true,
"protein_id": "NP_061137.1",
"strand": false,
"transcript": "NM_018667.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5271,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000219334.10",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018667.4",
"protein_coding": true,
"protein_id": "ENSP00000219334.5",
"strand": false,
"transcript": "ENST00000219334.10",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 647,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2093,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1944,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000563226.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000455955.1",
"strand": false,
"transcript": "ENST00000563226.1",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 638,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2073,
"cdna_start": 1449,
"cds_end": null,
"cds_length": 1917,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000568373.5",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000457422.1",
"strand": false,
"transcript": "ENST00000568373.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3010,
"cdna_start": 1781,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879593.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549652.1",
"strand": false,
"transcript": "ENST00000879593.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5194,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879594.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549653.1",
"strand": false,
"transcript": "ENST00000879594.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5233,
"cdna_start": 1758,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000879595.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549654.1",
"strand": false,
"transcript": "ENST00000879595.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5367,
"cdna_start": 1892,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879596.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549655.1",
"strand": false,
"transcript": "ENST00000879596.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5413,
"cdna_start": 1938,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879597.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549656.1",
"strand": false,
"transcript": "ENST00000879597.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6044,
"cdna_start": 2569,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879598.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549657.1",
"strand": false,
"transcript": "ENST00000879598.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4259,
"cdna_start": 2512,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879599.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549658.1",
"strand": false,
"transcript": "ENST00000879599.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3361,
"cdna_start": 2113,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000879601.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549660.1",
"strand": false,
"transcript": "ENST00000879601.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 655,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3111,
"cdna_start": 1863,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879602.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549661.1",
"strand": false,
"transcript": "ENST00000879602.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3667,
"cdna_start": 2419,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000879603.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549662.1",
"strand": false,
"transcript": "ENST00000879603.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 655,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3595,
"cdna_start": 2367,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955003.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625062.1",
"strand": false,
"transcript": "ENST00000955003.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2947,
"cdna_start": 2091,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000955004.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000625063.1",
"strand": false,
"transcript": "ENST00000955004.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3052,
"cdna_start": 2196,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000955005.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000625064.1",
"strand": false,
"transcript": "ENST00000955005.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 630,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2861,
"cdna_start": 1688,
"cds_end": null,
"cds_length": 1893,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000879600.1",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549659.1",
"strand": false,
"transcript": "ENST00000879600.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 655,
"aa_ref": "A",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1938,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_005256032.4",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005256089.1",
"strand": false,
"transcript": "XM_005256032.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5428,
"cdna_start": 1953,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_011523207.2",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011521509.1",
"strand": false,
"transcript": "XM_011523207.2",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 655,
"aa_ref": "A",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5474,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 1968,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "XM_017023406.2",
"gene_hgnc_id": 14240,
"gene_symbol": "SMPD3",
"hgvs_c": "c.1372G>C",
"hgvs_p": "p.Ala458Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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