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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: 15-74196083-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=74196083&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 21,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "STRA6",
"hgnc_id": 30650,
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Leu",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -21,
"transcript": "NM_001199042.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_score": -21,
"allele_count_reference_population": 298340,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.66,
"chr": "15",
"clinvar_classification": "Benign",
"clinvar_disease": "Matthew-Wood syndrome,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:4",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6600000262260437,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 421,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_022369.4",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000395105.9",
"protein_coding": true,
"protein_id": "NP_071764.3",
"strand": false,
"transcript": "NM_022369.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2708,
"cdna_start": 421,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000395105.9",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_022369.4",
"protein_coding": true,
"protein_id": "ENSP00000378537.4",
"strand": false,
"transcript": "ENST00000395105.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "L",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2565,
"cdna_start": 787,
"cds_end": null,
"cds_length": 2121,
"cds_start": 448,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000563965.5",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000456609.1",
"strand": false,
"transcript": "ENST00000563965.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 658,
"aa_ref": "L",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2776,
"cdna_start": 489,
"cds_end": null,
"cds_length": 1977,
"cds_start": 304,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000423167.6",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.304C>T",
"hgvs_p": "p.Leu102Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000413012.2",
"strand": false,
"transcript": "ENST00000423167.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 159,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1889,
"cdna_start": 525,
"cds_end": null,
"cds_length": 480,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000432245.6",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000407176.2",
"strand": false,
"transcript": "ENST00000432245.6",
"transcript_support_level": 1
},
{
"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": 2151,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000569936.5",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "n.331C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000461799.1",
"strand": false,
"transcript": "ENST00000569936.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 706,
"aa_ref": "L",
"aa_start": 150,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3003,
"cdna_start": 716,
"cds_end": null,
"cds_length": 2121,
"cds_start": 448,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001199042.2",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.448C>T",
"hgvs_p": "p.Leu150Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185971.1",
"strand": false,
"transcript": "NM_001199042.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 704,
"aa_ref": "L",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2980,
"cdna_start": 693,
"cds_end": null,
"cds_length": 2115,
"cds_start": 442,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001199040.2",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Leu148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185969.1",
"strand": false,
"transcript": "NM_001199040.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 704,
"aa_ref": "L",
"aa_start": 148,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2631,
"cdna_start": 693,
"cds_end": null,
"cds_length": 2115,
"cds_start": 442,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000535552.5",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.442C>T",
"hgvs_p": "p.Leu148Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440238.1",
"strand": false,
"transcript": "ENST00000535552.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 682,
"aa_ref": "L",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2991,
"cdna_start": 704,
"cds_end": null,
"cds_length": 2049,
"cds_start": 376,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001199041.2",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Leu126Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001185970.1",
"strand": false,
"transcript": "NM_001199041.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 682,
"aa_ref": "L",
"aa_start": 126,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2455,
"cdna_start": 704,
"cds_end": null,
"cds_length": 2049,
"cds_start": 376,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000574278.5",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.376C>T",
"hgvs_p": "p.Leu126Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000458827.1",
"strand": false,
"transcript": "ENST00000574278.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2823,
"cdna_start": 536,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142617.2",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136089.1",
"strand": false,
"transcript": "NM_001142617.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2688,
"cdna_start": 401,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001142618.2",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001136090.1",
"strand": false,
"transcript": "NM_001142618.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2766,
"cdna_start": 479,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001437994.1",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001424923.1",
"strand": false,
"transcript": "NM_001437994.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2864,
"cdna_start": 577,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000323940.9",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000326085.5",
"strand": false,
"transcript": "ENST00000323940.9",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2732,
"cdna_start": 445,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000449139.6",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000410221.2",
"strand": false,
"transcript": "ENST00000449139.6",
"transcript_support_level": 5
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2843,
"cdna_start": 559,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000616000.4",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000479112.1",
"strand": false,
"transcript": "ENST00000616000.4",
"transcript_support_level": 2
},
{
"aa_alt": "L",
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"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2769,
"cdna_start": 482,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863855.1",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533914.1",
"strand": false,
"transcript": "ENST00000863855.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2730,
"cdna_start": 443,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000863856.1",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533915.1",
"strand": false,
"transcript": "ENST00000863856.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2767,
"cdna_start": 480,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935164.1",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605223.1",
"strand": false,
"transcript": "ENST00000935164.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 667,
"aa_ref": "L",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2781,
"cdna_start": 499,
"cds_end": null,
"cds_length": 2004,
"cds_start": 331,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000935166.1",
"gene_hgnc_id": 30650,
"gene_symbol": "STRA6",
"hgvs_c": "c.331C>T",
"hgvs_p": "p.Leu111Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
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