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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: 7-74059930-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74059930&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ELN",
"hgnc_id": 3327,
"hgvs_c": "c.1546C>A",
"hgvs_p": "p.Pro516Thr",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001278939.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ELN-AS1",
"hgnc_id": 40212,
"hgvs_c": "n.202G>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "ENST00000435932.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.4309,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.47,
"chr": "7",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Inborn genetic diseases,Supravalvar aortic stenosis",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09859341382980347,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 724,
"aa_ref": "P",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_000501.4",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1459C>A",
"hgvs_p": "p.Pro487Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000252034.12",
"protein_coding": true,
"protein_id": "NP_000492.2",
"strand": true,
"transcript": "NM_000501.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 724,
"aa_ref": "P",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3397,
"cdna_start": 1474,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000252034.12",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1459C>A",
"hgvs_p": "p.Pro487Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000501.4",
"protein_coding": true,
"protein_id": "ENSP00000252034.7",
"strand": true,
"transcript": "ENST00000252034.12",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 730,
"aa_ref": "P",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2240,
"cdna_start": 1524,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000380562.8",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1477C>A",
"hgvs_p": "p.Pro493Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369936.4",
"strand": true,
"transcript": "ENST00000380562.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 714,
"aa_ref": "P",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": 1454,
"cds_end": null,
"cds_length": 2145,
"cds_start": 1429,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000458204.5",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1429C>A",
"hgvs_p": "p.Pro477Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403162.1",
"strand": true,
"transcript": "ENST00000458204.5",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 711,
"aa_ref": "P",
"aa_start": 492,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3361,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 2136,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000357036.9",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1474C>A",
"hgvs_p": "p.Pro492Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349540.5",
"strand": true,
"transcript": "ENST00000357036.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 705,
"aa_ref": "P",
"aa_start": 468,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3109,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 2118,
"cds_start": 1402,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000380576.9",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1402C>A",
"hgvs_p": "p.Pro468Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369950.5",
"strand": true,
"transcript": "ENST00000380576.9",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 677,
"aa_ref": "P",
"aa_start": 458,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3043,
"cdna_start": 1403,
"cds_end": null,
"cds_length": 2034,
"cds_start": 1372,
"consequences": [
"missense_variant"
],
"exon_count": 30,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000380575.8",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1372C>A",
"hgvs_p": "p.Pro458Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369949.4",
"strand": true,
"transcript": "ENST00000380575.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 658,
"aa_ref": "P",
"aa_start": 454,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3214,
"cdna_start": 1390,
"cds_end": null,
"cds_length": 1977,
"cds_start": 1360,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 21,
"exon_rank_end": null,
"feature": "ENST00000380584.8",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1360C>A",
"hgvs_p": "p.Pro454Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000369958.4",
"strand": true,
"transcript": "ENST00000380584.8",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 786,
"aa_ref": "P",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3583,
"cdna_start": 1561,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "NM_001278939.2",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1546C>A",
"hgvs_p": "p.Pro516Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265868.1",
"strand": true,
"transcript": "NM_001278939.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 786,
"aa_ref": "P",
"aa_start": 516,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2361,
"cdna_start": 1546,
"cds_end": null,
"cds_length": 2361,
"cds_start": 1546,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000692049.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1546C>A",
"hgvs_p": "p.Pro516Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000510104.1",
"strand": true,
"transcript": "ENST00000692049.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 757,
"aa_ref": "P",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2274,
"cdna_start": 1459,
"cds_end": null,
"cds_length": 2274,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000320399.10",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1459C>A",
"hgvs_p": "p.Pro487Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000313565.6",
"strand": true,
"transcript": "ENST00000320399.10",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 750,
"aa_ref": "P",
"aa_start": 513,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3248,
"cdna_start": 1555,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1537,
"consequences": [
"missense_variant"
],
"exon_count": 34,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000953888.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1537C>A",
"hgvs_p": "p.Pro513Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623947.1",
"strand": true,
"transcript": "ENST00000953888.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 730,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3415,
"cdna_start": 1492,
"cds_end": null,
"cds_length": 2193,
"cds_start": 1477,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "NM_001278915.2",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1477C>A",
"hgvs_p": "p.Pro493Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265844.1",
"strand": true,
"transcript": "NM_001278915.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 729,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 1529,
"cds_end": null,
"cds_length": 2190,
"cds_start": 1474,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000869821.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1474C>A",
"hgvs_p": "p.Pro492Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539880.1",
"strand": true,
"transcript": "ENST00000869821.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 725,
"aa_ref": "P",
"aa_start": 473,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3394,
"cdna_start": 1431,
"cds_end": null,
"cds_length": 2178,
"cds_start": 1417,
"consequences": [
"missense_variant"
],
"exon_count": 31,
"exon_rank": 22,
"exon_rank_end": null,
"feature": "ENST00000953850.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1417C>A",
"hgvs_p": "p.Pro473Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623909.1",
"strand": true,
"transcript": "ENST00000953850.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 724,
"aa_ref": "P",
"aa_start": 505,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3176,
"cdna_start": 1536,
"cds_end": null,
"cds_length": 2175,
"cds_start": 1513,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 24,
"exon_rank_end": null,
"feature": "ENST00000869853.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1513C>A",
"hgvs_p": "p.Pro505Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539912.1",
"strand": true,
"transcript": "ENST00000869853.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 723,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3223,
"cdna_start": 1532,
"cds_end": null,
"cds_length": 2172,
"cds_start": 1456,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000869840.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1456C>A",
"hgvs_p": "p.Pro486Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539899.1",
"strand": true,
"transcript": "ENST00000869840.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3692,
"cdna_start": 1775,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000869804.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1459C>A",
"hgvs_p": "p.Pro487Thr",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539863.1",
"strand": true,
"transcript": "ENST00000869804.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
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"aa_length": 722,
"aa_ref": "P",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 1498,
"cds_end": null,
"cds_length": 2169,
"cds_start": 1453,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000953875.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1453C>A",
"hgvs_p": "p.Pro485Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623934.1",
"strand": true,
"transcript": "ENST00000953875.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 720,
"aa_ref": "P",
"aa_start": 487,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3192,
"cdna_start": 1514,
"cds_end": null,
"cds_length": 2163,
"cds_start": 1459,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000953869.1",
"gene_hgnc_id": 3327,
"gene_symbol": "ELN",
"hgvs_c": "c.1459C>A",
"hgvs_p": "p.Pro487Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623928.1",
"strand": true,
"transcript": "ENST00000953869.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 716,
"aa_ref": "P",
"aa_start": 479,
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