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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: 7-140694788-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140694788&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 10,
"criteria": [
"BP4_Strong",
"BP6",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ADCK2",
"hgnc_id": 19039,
"hgvs_c": "c.1866A>T",
"hgvs_p": "p.Pro622Pro",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -10,
"transcript": "NM_052853.4",
"verdict": "Benign"
},
{
"benign_score": 9,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NDUFB2",
"hgnc_id": 7697,
"hgvs_c": "c.-268-1131A>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -9,
"transcript": "ENST00000482954.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BP7,BS2",
"acmg_score": -10,
"allele_count_reference_population": 263,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.88,
"chr": "7",
"clinvar_classification": "Likely benign",
"clinvar_disease": "ADCK2-related disorder",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8799999952316284,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 626,
"aa_ref": "P",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 2252,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1866,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_052853.4",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1866A>T",
"hgvs_p": "p.Pro622Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000072869.9",
"protein_coding": true,
"protein_id": "NP_443085.2",
"strand": true,
"transcript": "NM_052853.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 626,
"aa_ref": "P",
"aa_start": 622,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 2252,
"cds_end": null,
"cds_length": 1881,
"cds_start": 1866,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000072869.9",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1866A>T",
"hgvs_p": "p.Pro622Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_052853.4",
"protein_coding": true,
"protein_id": "ENSP00000072869.4",
"strand": true,
"transcript": "ENST00000072869.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 590,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": null,
"cds_end": null,
"cds_length": 1773,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000476491.5",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1741-984A>T",
"hgvs_p": null,
"intron_rank": 7,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420512.1",
"strand": true,
"transcript": "ENST00000476491.5",
"transcript_support_level": 1
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 733,
"aa_ref": "P",
"aa_start": 729,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 2556,
"cds_end": null,
"cds_length": 2202,
"cds_start": 2187,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000926717.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.2187A>T",
"hgvs_p": "p.Pro729Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596776.1",
"strand": true,
"transcript": "ENST00000926717.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 639,
"aa_ref": "P",
"aa_start": 635,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 2291,
"cds_end": null,
"cds_length": 1920,
"cds_start": 1905,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896694.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1905A>T",
"hgvs_p": "p.Pro635Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566753.1",
"strand": true,
"transcript": "ENST00000896694.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 625,
"aa_ref": "P",
"aa_start": 621,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 2274,
"cds_end": null,
"cds_length": 1878,
"cds_start": 1863,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000926715.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1863A>T",
"hgvs_p": "p.Pro621Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596774.1",
"strand": true,
"transcript": "ENST00000926715.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "P",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1860,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000896697.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1860A>T",
"hgvs_p": "p.Pro620Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566756.1",
"strand": true,
"transcript": "ENST00000896697.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 624,
"aa_ref": "P",
"aa_start": 620,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": 2242,
"cds_end": null,
"cds_length": 1875,
"cds_start": 1860,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000953390.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1860A>T",
"hgvs_p": "p.Pro620Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623449.1",
"strand": true,
"transcript": "ENST00000953390.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 608,
"aa_ref": "P",
"aa_start": 604,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 1825,
"cds_end": null,
"cds_length": 1827,
"cds_start": 1812,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896699.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1812A>T",
"hgvs_p": "p.Pro604Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566758.1",
"strand": true,
"transcript": "ENST00000896699.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 594,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 2197,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896692.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1770A>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566751.1",
"strand": true,
"transcript": "ENST00000896692.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 583,
"aa_ref": "P",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 1956,
"cds_end": null,
"cds_length": 1752,
"cds_start": 1737,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896698.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1737A>T",
"hgvs_p": "p.Pro579Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566757.1",
"strand": true,
"transcript": "ENST00000896698.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 565,
"aa_ref": "P",
"aa_start": 561,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 1698,
"cds_start": 1683,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000953389.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1683A>T",
"hgvs_p": "p.Pro561Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623448.1",
"strand": true,
"transcript": "ENST00000953389.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 551,
"aa_ref": "P",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 2087,
"cds_end": null,
"cds_length": 1656,
"cds_start": 1641,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926714.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1641A>T",
"hgvs_p": "p.Pro547Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596773.1",
"strand": true,
"transcript": "ENST00000926714.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 542,
"aa_ref": "P",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 2023,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000896693.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1614A>T",
"hgvs_p": "p.Pro538Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566752.1",
"strand": true,
"transcript": "ENST00000896693.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 510,
"aa_ref": "P",
"aa_start": 506,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1904,
"cds_end": null,
"cds_length": 1533,
"cds_start": 1518,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000896695.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1518A>T",
"hgvs_p": "p.Pro506Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566754.1",
"strand": true,
"transcript": "ENST00000896695.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 499,
"aa_ref": "P",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 1871,
"cds_end": null,
"cds_length": 1500,
"cds_start": 1485,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000926716.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1485A>T",
"hgvs_p": "p.Pro495Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596775.1",
"strand": true,
"transcript": "ENST00000926716.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 481,
"aa_ref": "P",
"aa_start": 477,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 1817,
"cds_end": null,
"cds_length": 1446,
"cds_start": 1431,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000896696.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1431A>T",
"hgvs_p": "p.Pro477Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566755.1",
"strand": true,
"transcript": "ENST00000896696.1",
"transcript_support_level": null
},
{
"aa_alt": "P",
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"aa_length": 223,
"aa_ref": "P",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 950,
"cdna_start": 657,
"cds_end": null,
"cds_length": 672,
"cds_start": 657,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000473512.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.657A>T",
"hgvs_p": "p.Pro219Pro",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000420288.1",
"strand": true,
"transcript": "ENST00000473512.1",
"transcript_support_level": 3
},
{
"aa_alt": "P",
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"aa_length": 594,
"aa_ref": "P",
"aa_start": 590,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 2156,
"cds_end": null,
"cds_length": 1785,
"cds_start": 1770,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_011516675.4",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1770A>T",
"hgvs_p": "p.Pro590Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011514977.1",
"strand": true,
"transcript": "XM_011516675.4",
"transcript_support_level": null
},
{
"aa_alt": "P",
"aa_end": null,
"aa_length": 542,
"aa_ref": "P",
"aa_start": 538,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 2000,
"cds_end": null,
"cds_length": 1629,
"cds_start": 1614,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "XM_006716170.5",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.1614A>T",
"hgvs_p": "p.Pro538Pro",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716233.1",
"strand": true,
"transcript": "XM_006716170.5",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 469,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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]
}