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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: 11-71437869-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=71437869&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BP4_Moderate",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DHCR7",
"hgnc_id": 2860,
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Phe319Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_001425107.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BP7,BS2",
"acmg_score": -8,
"allele_count_reference_population": 195,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.51,
"chr": "11",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "DHCR7-related disorder,Inborn genetic diseases,Smith-Lemli-Opitz syndrome,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.04899999871850014,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001360.3",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000355527.8",
"protein_coding": true,
"protein_id": "NP_001351.2",
"strand": false,
"transcript": "NM_001360.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2627,
"cdna_start": 1141,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000355527.8",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001360.3",
"protein_coding": true,
"protein_id": "ENSP00000347717.4",
"strand": false,
"transcript": "ENST00000355527.8",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2601,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000407721.6",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000384739.2",
"strand": false,
"transcript": "ENST00000407721.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 280,
"aa_ref": "F",
"aa_start": 107,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2287,
"cdna_start": 811,
"cds_end": null,
"cds_length": 843,
"cds_start": 321,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000685320.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.321C>T",
"hgvs_p": "p.Phe107Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000509319.1",
"strand": false,
"transcript": "ENST00000685320.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 115,
"aa_ref": "F",
"aa_start": 87,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 979,
"cdna_start": 262,
"cds_end": null,
"cds_length": 348,
"cds_start": 261,
"consequences": [
"synonymous_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000534795.5",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.261C>T",
"hgvs_p": "p.Phe87Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000432256.1",
"strand": false,
"transcript": "ENST00000534795.5",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 492,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2678,
"cdna_start": 1192,
"cds_end": null,
"cds_length": 1479,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001425107.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Phe319Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412036.1",
"strand": false,
"transcript": "NM_001425107.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 492,
"aa_ref": "F",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2710,
"cdna_start": 1234,
"cds_end": null,
"cds_length": 1479,
"cds_start": 957,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000682708.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.957C>T",
"hgvs_p": "p.Phe319Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506866.1",
"strand": false,
"transcript": "ENST00000682708.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 487,
"aa_ref": "F",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2663,
"cdna_start": 1177,
"cds_end": null,
"cds_length": 1464,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425108.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Phe314Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412037.1",
"strand": false,
"transcript": "NM_001425108.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 487,
"aa_ref": "F",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2695,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1464,
"cds_start": 942,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000683287.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.942C>T",
"hgvs_p": "p.Phe314Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507607.1",
"strand": false,
"transcript": "ENST00000683287.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2604,
"cdna_start": 1118,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001163817.2",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001157289.1",
"strand": false,
"transcript": "NM_001163817.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2854,
"cdna_start": 1368,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425109.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412038.1",
"strand": false,
"transcript": "NM_001425109.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 1154,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001425110.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001412039.1",
"strand": false,
"transcript": "NM_001425110.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2603,
"cdna_start": 1127,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000525346.6",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435707.3",
"strand": false,
"transcript": "ENST00000525346.6",
"transcript_support_level": 4
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2850,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000526780.6",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435668.2",
"strand": false,
"transcript": "ENST00000526780.6",
"transcript_support_level": 2
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2576,
"cdna_start": 1090,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864862.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534921.1",
"strand": false,
"transcript": "ENST00000864862.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2649,
"cdna_start": 1169,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864863.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534922.1",
"strand": false,
"transcript": "ENST00000864863.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2548,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864864.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534923.1",
"strand": false,
"transcript": "ENST00000864864.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 1070,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000864865.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534924.1",
"strand": false,
"transcript": "ENST00000864865.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 1044,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000864866.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000534925.1",
"strand": false,
"transcript": "ENST00000864866.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2643,
"cdna_start": 1157,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000938772.1",
"gene_hgnc_id": 2860,
"gene_symbol": "DHCR7",
"hgvs_c": "c.906C>T",
"hgvs_p": "p.Phe302Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608831.1",
"strand": false,
"transcript": "ENST00000938772.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 475,
"aa_ref": "F",
"aa_start": 302,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2818,
"cdna_start": 1332,
"cds_end": null,
"cds_length": 1428,
"cds_start": 906,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000938773.1",
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