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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: 7-140673936-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=140673936&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "ADCK2",
"hgnc_id": 19039,
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_052853.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"5_prime_UTR_variant"
],
"gene_symbol": "DENND2A",
"hgnc_id": 22212,
"hgvs_c": "c.-208G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000489552.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.54,
"chr": "7",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.012000000104308128,
"computational_source_selected": "REVEL",
"consequences": [
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 626,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1881,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_052853.4",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 626,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2574,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1881,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000072869.9",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 590,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2092,
"cdna_start": 784,
"cds_end": null,
"cds_length": 1773,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000476491.5",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"intron_rank": null,
"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": "N",
"aa_end": null,
"aa_length": 733,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2878,
"cdna_start": 975,
"cds_end": null,
"cds_length": 2202,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 9,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000926717.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 639,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2612,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1920,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896694.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 625,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2594,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1878,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000926715.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 624,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2549,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1875,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896697.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 624,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2564,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1875,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000953390.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 608,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 619,
"cds_end": null,
"cds_length": 1827,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896699.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 594,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2525,
"cdna_start": 1033,
"cds_end": null,
"cds_length": 1785,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896692.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 583,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 825,
"cds_end": null,
"cds_length": 1752,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896698.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 565,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2418,
"cdna_start": 1009,
"cds_end": null,
"cds_length": 1698,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000953389.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623448.1",
"strand": true,
"transcript": "ENST00000953389.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 551,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2406,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1656,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000926714.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 542,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2349,
"cdna_start": 1015,
"cds_end": null,
"cds_length": 1629,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896693.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566752.1",
"strand": true,
"transcript": "ENST00000896693.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 510,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1533,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896695.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 499,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2191,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1500,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000926716.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 481,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2136,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1446,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000896696.1",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000566755.1",
"strand": true,
"transcript": "ENST00000896696.1",
"transcript_support_level": null
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 469,
"aa_ref": "N",
"aa_start": 39,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1487,
"cdna_start": 118,
"cds_end": null,
"cds_length": 1410,
"cds_start": 117,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000483369.5",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.117C>T",
"hgvs_p": "p.Asn39Asn",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417367.1",
"strand": true,
"transcript": "ENST00000483369.5",
"transcript_support_level": 5
},
{
"aa_alt": "N",
"aa_end": null,
"aa_length": 594,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2478,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1785,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_011516675.4",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": "N",
"aa_end": null,
"aa_length": 542,
"aa_ref": "N",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2322,
"cdna_start": 992,
"cds_end": null,
"cds_length": 1629,
"cds_start": 606,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_006716170.5",
"gene_hgnc_id": 19039,
"gene_symbol": "ADCK2",
"hgvs_c": "c.606C>T",
"hgvs_p": "p.Asn202Asn",
"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": 89,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 537,
"cdna_start": null,
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}