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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: 8-53756610-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=53756610&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ATP6V1H",
"hgnc_id": 18303,
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_015941.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 9,
"alphamissense_prediction": null,
"alphamissense_score": 0.9034,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.3,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7205907702445984,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_015941.4",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000359530.7",
"protein_coding": true,
"protein_id": "NP_057025.2",
"strand": false,
"transcript": "NM_015941.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2120,
"cdna_start": 1469,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000359530.7",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_015941.4",
"protein_coding": true,
"protein_id": "ENSP00000352522.2",
"strand": false,
"transcript": "ENST00000359530.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 465,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2365,
"cdna_start": 1728,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000355221.7",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000347359.3",
"strand": false,
"transcript": "ENST00000355221.7",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2283,
"cdna_start": 1632,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_213620.3",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_998785.1",
"strand": false,
"transcript": "NM_213620.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1892,
"cdna_start": 1429,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000396774.6",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379995.2",
"strand": false,
"transcript": "ENST00000396774.6",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1988,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884428.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554487.1",
"strand": false,
"transcript": "ENST00000884428.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 483,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1985,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1452,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884432.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554491.1",
"strand": false,
"transcript": "ENST00000884432.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "A",
"aa_start": 402,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1975,
"cdna_start": 1451,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1204,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000915528.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1204G>A",
"hgvs_p": "p.Ala402Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585587.1",
"strand": false,
"transcript": "ENST00000915528.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 465,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2066,
"cdna_start": 1415,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_213619.3",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_998784.1",
"strand": false,
"transcript": "NM_213619.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 465,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 1516,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000884425.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554484.1",
"strand": false,
"transcript": "ENST00000884425.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 465,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1901,
"cdna_start": 1377,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000884433.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554492.1",
"strand": false,
"transcript": "ENST00000884433.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 465,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1888,
"cdna_start": 1238,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000915530.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585589.1",
"strand": false,
"transcript": "ENST00000915530.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 465,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1912,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 1398,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000957348.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1168G>A",
"hgvs_p": "p.Ala390Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000627407.1",
"strand": false,
"transcript": "ENST00000957348.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1904,
"cdna_start": 1494,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000884427.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554486.1",
"strand": false,
"transcript": "ENST00000884427.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2031,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000915523.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Ala370Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585582.1",
"strand": false,
"transcript": "ENST00000915523.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 370,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 1251,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1108,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000915533.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1108G>A",
"hgvs_p": "p.Ala370Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585592.1",
"strand": false,
"transcript": "ENST00000915533.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 445,
"aa_ref": "A",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1771,
"cdna_start": 1361,
"cds_end": null,
"cds_length": 1338,
"cds_start": 1222,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000915534.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1222G>A",
"hgvs_p": "p.Ala408Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585593.1",
"strand": false,
"transcript": "ENST00000915534.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 443,
"aa_ref": "A",
"aa_start": 368,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1967,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1332,
"cds_start": 1102,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000520188.5",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1102G>A",
"hgvs_p": "p.Ala368Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000429947.1",
"strand": false,
"transcript": "ENST00000520188.5",
"transcript_support_level": 2
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 441,
"aa_ref": "A",
"aa_start": 366,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1884,
"cdna_start": 1360,
"cds_end": null,
"cds_length": 1326,
"cds_start": 1096,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000884430.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1096G>A",
"hgvs_p": "p.Ala366Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554489.1",
"strand": false,
"transcript": "ENST00000884430.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 435,
"aa_ref": "A",
"aa_start": 360,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1322,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1078,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000884431.1",
"gene_hgnc_id": 18303,
"gene_symbol": "ATP6V1H",
"hgvs_c": "c.1078G>A",
"hgvs_p": "p.Ala360Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554490.1",
"strand": false,
"transcript": "ENST00000884431.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 427,
"aa_ref": "A",
"aa_start": 390,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1874,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1284,
"cds_start": 1168,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000915525.1",
"gene_hgnc_id": 18303,
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"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"pos": 53756610,
"ref": "C",
"revel_prediction": "Uncertain_significance",
"revel_score": 0.337,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_015941.4"
}
]
}