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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: 7-74797820-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=74797820&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "GTF2IRD2",
"hgnc_id": 30775,
"hgvs_c": "c.2178C>T",
"hgvs_p": "p.Ala726Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001368300.2",
"verdict": "Benign"
},
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ENSG00000289346",
"hgnc_id": null,
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Ala564Ala",
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -11,
"transcript": "ENST00000625377.3",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 1517,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.6200000047683716,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 949,
"aa_ref": "A",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 2850,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_173537.5",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Ala564Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000451013.7",
"protein_coding": true,
"protein_id": "NP_775808.4",
"strand": false,
"transcript": "NM_173537.5",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 949,
"aa_ref": "A",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3605,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 2850,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000451013.7",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Ala564Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173537.5",
"protein_coding": true,
"protein_id": "ENSP00000406723.3",
"strand": false,
"transcript": "ENST00000451013.7",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 949,
"aa_ref": "A",
"aa_start": 564,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4346,
"cdna_start": 2676,
"cds_end": null,
"cds_length": 2850,
"cds_start": 1692,
"consequences": [
"synonymous_variant"
],
"exon_count": 23,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000625377.3",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000289346",
"hgvs_c": "c.1692C>T",
"hgvs_p": "p.Ala564Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486581.2",
"strand": false,
"transcript": "ENST00000625377.3",
"transcript_support_level": 5
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "A",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4784,
"cdna_start": 3115,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2178,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "NM_001368300.2",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.2178C>T",
"hgvs_p": "p.Ala726Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001355229.1",
"strand": false,
"transcript": "NM_001368300.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 1111,
"aa_ref": "A",
"aa_start": 726,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4663,
"cdna_start": 3028,
"cds_end": null,
"cds_length": 3336,
"cds_start": 2178,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 17,
"exon_rank_end": null,
"feature": "ENST00000651129.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.2178C>T",
"hgvs_p": "p.Ala726Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000498563.1",
"strand": false,
"transcript": "ENST00000651129.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 954,
"aa_ref": "A",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3620,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1707,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001388079.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1707C>T",
"hgvs_p": "p.Ala569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375008.1",
"strand": false,
"transcript": "NM_001388079.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 954,
"aa_ref": "A",
"aa_start": 569,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3627,
"cdna_start": 1951,
"cds_end": null,
"cds_length": 2865,
"cds_start": 1707,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000907795.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1707C>T",
"hgvs_p": "p.Ala569Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577854.1",
"strand": false,
"transcript": "ENST00000907795.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1641,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001388087.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.Ala547Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375016.1",
"strand": false,
"transcript": "NM_001388087.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 932,
"aa_ref": "A",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3561,
"cdna_start": 1885,
"cds_end": null,
"cds_length": 2799,
"cds_start": 1641,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000966521.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1641C>T",
"hgvs_p": "p.Ala547Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636580.1",
"strand": false,
"transcript": "ENST00000966521.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 930,
"aa_ref": "A",
"aa_start": 545,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3510,
"cdna_start": 1835,
"cds_end": null,
"cds_length": 2793,
"cds_start": 1635,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000966524.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1635C>T",
"hgvs_p": "p.Ala545Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636583.1",
"strand": false,
"transcript": "ENST00000966524.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 928,
"aa_ref": "A",
"aa_start": 543,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3545,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 2787,
"cds_start": 1629,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907797.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1629C>T",
"hgvs_p": "p.Ala543Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577856.1",
"strand": false,
"transcript": "ENST00000907797.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 927,
"aa_ref": "A",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1870,
"cds_end": null,
"cds_length": 2784,
"cds_start": 1626,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001388080.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1626C>T",
"hgvs_p": "p.Ala542Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375009.1",
"strand": false,
"transcript": "NM_001388080.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 927,
"aa_ref": "A",
"aa_start": 542,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3502,
"cdna_start": 1828,
"cds_end": null,
"cds_length": 2784,
"cds_start": 1626,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907800.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1626C>T",
"hgvs_p": "p.Ala542Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577859.1",
"strand": false,
"transcript": "ENST00000907800.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 923,
"aa_ref": "A",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3527,
"cdna_start": 1858,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001388081.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Ala538Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375010.1",
"strand": false,
"transcript": "NM_001388081.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 923,
"aa_ref": "A",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3491,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907799.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1614C>T",
"hgvs_p": "p.Ala538Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577858.1",
"strand": false,
"transcript": "ENST00000907799.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 921,
"aa_ref": "A",
"aa_start": 536,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3528,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2766,
"cds_start": 1608,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000907794.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1608C>T",
"hgvs_p": "p.Ala536Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577853.1",
"strand": false,
"transcript": "ENST00000907794.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 909,
"aa_ref": "A",
"aa_start": 524,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3838,
"cdna_start": 2165,
"cds_end": null,
"cds_length": 2730,
"cds_start": 1572,
"consequences": [
"synonymous_variant"
],
"exon_count": 15,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000966528.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1572C>T",
"hgvs_p": "p.Ala524Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000636587.1",
"strand": false,
"transcript": "ENST00000966528.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 904,
"aa_ref": "A",
"aa_start": 519,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3470,
"cdna_start": 1801,
"cds_end": null,
"cds_length": 2715,
"cds_start": 1557,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001388082.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1557C>T",
"hgvs_p": "p.Ala519Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375011.1",
"strand": false,
"transcript": "NM_001388082.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 883,
"aa_ref": "A",
"aa_start": 498,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3409,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 2652,
"cds_start": 1494,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000907798.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1494C>T",
"hgvs_p": "p.Ala498Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000577857.1",
"strand": false,
"transcript": "ENST00000907798.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 878,
"aa_ref": "A",
"aa_start": 493,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3392,
"cdna_start": 1723,
"cds_end": null,
"cds_length": 2637,
"cds_start": 1479,
"consequences": [
"synonymous_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "NM_001388083.1",
"gene_hgnc_id": 30775,
"gene_symbol": "GTF2IRD2",
"hgvs_c": "c.1479C>T",
"hgvs_p": "p.Ala493Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001375012.1",
"strand": false,
"transcript": "NM_001388083.1",
"transcript_support_level": null
},
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{
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],
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"phenotype_combined": "not provided",
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}
]
}