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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: 16-16134385-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=16134385&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 13,
"criteria": [
"BP4_Strong",
"BP7",
"BA1"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ABCC1",
"hgnc_id": 51,
"hgvs_c": "c.4002G>A",
"hgvs_p": "p.Ser1334Ser",
"inheritance_mode": "Unknown,AD",
"pathogenic_score": 0,
"score": -13,
"transcript": "NM_004996.4",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP7,BA1",
"acmg_score": -13,
"allele_count_reference_population": 421988,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.85,
"chr": "16",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8500000238418579,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6504,
"cdna_start": 4138,
"cds_end": null,
"cds_length": 4596,
"cds_start": 4002,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_004996.4",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.4002G>A",
"hgvs_p": "p.Ser1334Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000399410.8",
"protein_coding": true,
"protein_id": "NP_004987.2",
"strand": true,
"transcript": "NM_004996.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1531,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 6504,
"cdna_start": 4138,
"cds_end": null,
"cds_length": 4596,
"cds_start": 4002,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000399410.8",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.4002G>A",
"hgvs_p": "p.Ser1334Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004996.4",
"protein_coding": true,
"protein_id": "ENSP00000382342.3",
"strand": true,
"transcript": "ENST00000399410.8",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "S",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6387,
"cdna_start": 4000,
"cds_end": null,
"cds_length": 4419,
"cds_start": 3825,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000572882.3",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3825G>A",
"hgvs_p": "p.Ser1275Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461615.2",
"strand": true,
"transcript": "ENST00000572882.3",
"transcript_support_level": 1
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1583,
"aa_ref": "S",
"aa_start": 1386,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6649,
"cdna_start": 4287,
"cds_end": null,
"cds_length": 4752,
"cds_start": 4158,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000914156.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.4158G>A",
"hgvs_p": "p.Ser1386Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584215.1",
"strand": true,
"transcript": "ENST00000914156.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1541,
"aa_ref": "S",
"aa_start": 1344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6594,
"cdna_start": 4207,
"cds_end": null,
"cds_length": 4626,
"cds_start": 4032,
"consequences": [
"synonymous_variant"
],
"exon_count": 32,
"exon_rank": 29,
"exon_rank_end": null,
"feature": "ENST00000399408.7",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.4032G>A",
"hgvs_p": "p.Ser1344Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000382340.4",
"strand": true,
"transcript": "ENST00000399408.7",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1527,
"aa_ref": "S",
"aa_start": 1330,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6498,
"cdna_start": 4130,
"cds_end": null,
"cds_length": 4584,
"cds_start": 3990,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000914151.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3990G>A",
"hgvs_p": "p.Ser1330Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584210.1",
"strand": true,
"transcript": "ENST00000914151.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1517,
"aa_ref": "S",
"aa_start": 1320,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6436,
"cdna_start": 4070,
"cds_end": null,
"cds_length": 4554,
"cds_start": 3960,
"consequences": [
"synonymous_variant"
],
"exon_count": 31,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000914157.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3960G>A",
"hgvs_p": "p.Ser1320Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584216.1",
"strand": true,
"transcript": "ENST00000914157.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "S",
"aa_start": 1292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6378,
"cdna_start": 4012,
"cds_end": null,
"cds_length": 4470,
"cds_start": 3876,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_019901.2",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3876G>A",
"hgvs_p": "p.Ser1292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_063956.2",
"strand": true,
"transcript": "NM_019901.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1489,
"aa_ref": "S",
"aa_start": 1292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6441,
"cdna_start": 4066,
"cds_end": null,
"cds_length": 4470,
"cds_start": 3876,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000914139.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3876G>A",
"hgvs_p": "p.Ser1292Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584198.1",
"strand": true,
"transcript": "ENST00000914139.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1485,
"aa_ref": "S",
"aa_start": 1288,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6420,
"cdna_start": 4045,
"cds_end": null,
"cds_length": 4458,
"cds_start": 3864,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000914141.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3864G>A",
"hgvs_p": "p.Ser1288Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584200.1",
"strand": true,
"transcript": "ENST00000914141.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1482,
"aa_ref": "S",
"aa_start": 1285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6357,
"cdna_start": 3991,
"cds_end": null,
"cds_length": 4449,
"cds_start": 3855,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_019902.2",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3855G>A",
"hgvs_p": "p.Ser1285Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_063957.2",
"strand": true,
"transcript": "NM_019902.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1482,
"aa_ref": "S",
"aa_start": 1285,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6412,
"cdna_start": 4028,
"cds_end": null,
"cds_length": 4449,
"cds_start": 3855,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000914140.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3855G>A",
"hgvs_p": "p.Ser1285Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584199.1",
"strand": true,
"transcript": "ENST00000914140.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "S",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6336,
"cdna_start": 3970,
"cds_end": null,
"cds_length": 4428,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_019898.3",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3834G>A",
"hgvs_p": "p.Ser1278Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_063953.2",
"strand": true,
"transcript": "NM_019898.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1475,
"aa_ref": "S",
"aa_start": 1278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6379,
"cdna_start": 3992,
"cds_end": null,
"cds_length": 4428,
"cds_start": 3834,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000914143.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3834G>A",
"hgvs_p": "p.Ser1278Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584202.1",
"strand": true,
"transcript": "ENST00000914143.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1472,
"aa_ref": "S",
"aa_start": 1275,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6327,
"cdna_start": 3961,
"cds_end": null,
"cds_length": 4419,
"cds_start": 3825,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_019862.3",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3825G>A",
"hgvs_p": "p.Ser1275Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_063915.2",
"strand": true,
"transcript": "NM_019862.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6309,
"cdna_start": 4138,
"cds_end": null,
"cds_length": 4401,
"cds_start": 4002,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "NM_001438755.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.4002G>A",
"hgvs_p": "p.Ser1334Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425684.1",
"strand": true,
"transcript": "NM_001438755.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1466,
"aa_ref": "S",
"aa_start": 1334,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6322,
"cdna_start": 4142,
"cds_end": null,
"cds_length": 4401,
"cds_start": 4002,
"consequences": [
"synonymous_variant"
],
"exon_count": 30,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000914148.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.4002G>A",
"hgvs_p": "p.Ser1334Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584207.1",
"strand": true,
"transcript": "ENST00000914148.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1443,
"aa_ref": "S",
"aa_start": 1246,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6290,
"cdna_start": 3903,
"cds_end": null,
"cds_length": 4332,
"cds_start": 3738,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000914142.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3738G>A",
"hgvs_p": "p.Ser1246Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584201.1",
"strand": true,
"transcript": "ENST00000914142.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "S",
"aa_start": 1243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6231,
"cdna_start": 3865,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3729,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "NM_001438715.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3729G>A",
"hgvs_p": "p.Ser1243Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425644.1",
"strand": true,
"transcript": "NM_001438715.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1440,
"aa_ref": "S",
"aa_start": 1243,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6241,
"cdna_start": 3858,
"cds_end": null,
"cds_length": 4323,
"cds_start": 3729,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000914149.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
"hgvs_c": "c.3729G>A",
"hgvs_p": "p.Ser1243Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000584208.1",
"strand": true,
"transcript": "ENST00000914149.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 1436,
"aa_ref": "S",
"aa_start": 1239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6218,
"cdna_start": 3857,
"cds_end": null,
"cds_length": 4311,
"cds_start": 3717,
"consequences": [
"synonymous_variant"
],
"exon_count": 29,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000914153.1",
"gene_hgnc_id": 51,
"gene_symbol": "ABCC1",
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