← Back to variant description
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: 8-60865355-CTG-GTT (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=60865355&ref=CTG&alt=GTT&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "CHD7",
"hgnc_id": 20626,
"hgvs_c": "c.8416_8418delCTGinsGTT",
"hgvs_p": "p.Leu2806Val",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_017780.4",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "GTT",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "8",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2997,
"aa_ref": "L",
"aa_start": 2806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11606,
"cdna_start": 8933,
"cds_end": null,
"cds_length": 8994,
"cds_start": 8416,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_017780.4",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8416_8418delCTGinsGTT",
"hgvs_p": "p.Leu2806Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000423902.7",
"protein_coding": true,
"protein_id": "NP_060250.2",
"strand": true,
"transcript": "NM_017780.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2997,
"aa_ref": "L",
"aa_start": 2806,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 11606,
"cdna_start": 8933,
"cds_end": null,
"cds_length": 8994,
"cds_start": 8416,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423902.7",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8416_8418delCTGinsGTT",
"hgvs_p": "p.Leu2806Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017780.4",
"protein_coding": true,
"protein_id": "ENSP00000392028.1",
"strand": true,
"transcript": "ENST00000423902.7",
"transcript_support_level": 5
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 948,
"aa_ref": "L",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3456,
"cdna_start": 2337,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000524602.5",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.2269_2271delCTGinsGTT",
"hgvs_p": "p.Leu757Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437061.1",
"strand": true,
"transcript": "ENST00000524602.5",
"transcript_support_level": 1
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3008,
"aa_ref": "L",
"aa_start": 2817,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10464,
"cdna_start": 8923,
"cds_end": null,
"cds_length": 9027,
"cds_start": 8449,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933299.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8449_8451delCTGinsGTT",
"hgvs_p": "p.Leu2817Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603358.1",
"strand": true,
"transcript": "ENST00000933299.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2997,
"aa_ref": "L",
"aa_start": 2806,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10294,
"cdna_start": 8760,
"cds_end": null,
"cds_length": 8994,
"cds_start": 8416,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933300.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8416_8418delCTGinsGTT",
"hgvs_p": "p.Leu2806Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603359.1",
"strand": true,
"transcript": "ENST00000933300.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2986,
"aa_ref": "L",
"aa_start": 2795,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 10433,
"cdna_start": 8857,
"cds_end": null,
"cds_length": 8961,
"cds_start": 8383,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000933298.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8383_8385delCTGinsGTT",
"hgvs_p": "p.Leu2795Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000603357.1",
"strand": true,
"transcript": "ENST00000933298.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 948,
"aa_ref": "L",
"aa_start": 757,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5116,
"cdna_start": 2443,
"cds_end": null,
"cds_length": 2847,
"cds_start": 2269,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001316690.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.2269_2271delCTGinsGTT",
"hgvs_p": "p.Leu757Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001303619.1",
"strand": true,
"transcript": "NM_001316690.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3027,
"aa_ref": "L",
"aa_start": 2836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11696,
"cdna_start": 9023,
"cds_end": null,
"cds_length": 9084,
"cds_start": 8506,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517553.3",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8506_8508delCTGinsGTT",
"hgvs_p": "p.Leu2836Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515855.1",
"strand": true,
"transcript": "XM_011517553.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3027,
"aa_ref": "L",
"aa_start": 2836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11650,
"cdna_start": 8977,
"cds_end": null,
"cds_length": 9084,
"cds_start": 8506,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517554.4",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8506_8508delCTGinsGTT",
"hgvs_p": "p.Leu2836Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515856.1",
"strand": true,
"transcript": "XM_011517554.4",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3027,
"aa_ref": "L",
"aa_start": 2836,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11711,
"cdna_start": 9038,
"cds_end": null,
"cds_length": 9084,
"cds_start": 8506,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013612.2",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8506_8508delCTGinsGTT",
"hgvs_p": "p.Leu2836Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869101.1",
"strand": true,
"transcript": "XM_017013612.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 3026,
"aa_ref": "L",
"aa_start": 2835,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11693,
"cdna_start": 9020,
"cds_end": null,
"cds_length": 9081,
"cds_start": 8503,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011517555.3",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8503_8505delCTGinsGTT",
"hgvs_p": "p.Leu2835Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011515857.1",
"strand": true,
"transcript": "XM_011517555.3",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2996,
"aa_ref": "L",
"aa_start": 2805,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11603,
"cdna_start": 8930,
"cds_end": null,
"cds_length": 8991,
"cds_start": 8413,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017013613.2",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8413_8415delCTGinsGTT",
"hgvs_p": "p.Leu2805Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016869102.1",
"strand": true,
"transcript": "XM_017013613.2",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2953,
"aa_ref": "L",
"aa_start": 2762,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11474,
"cdna_start": 8801,
"cds_end": null,
"cds_length": 8862,
"cds_start": 8284,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421945.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8284_8286delCTGinsGTT",
"hgvs_p": "p.Leu2762Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277901.1",
"strand": true,
"transcript": "XM_047421945.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2952,
"aa_ref": "L",
"aa_start": 2761,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11471,
"cdna_start": 8798,
"cds_end": null,
"cds_length": 8859,
"cds_start": 8281,
"consequences": [
"missense_variant"
],
"exon_count": 38,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421946.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8281_8283delCTGinsGTT",
"hgvs_p": "p.Leu2761Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277902.1",
"strand": true,
"transcript": "XM_047421946.1",
"transcript_support_level": null
},
{
"aa_alt": "V",
"aa_end": null,
"aa_length": 2922,
"aa_ref": "L",
"aa_start": 2731,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 11381,
"cdna_start": 8708,
"cds_end": null,
"cds_length": 8769,
"cds_start": 8191,
"consequences": [
"missense_variant"
],
"exon_count": 37,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421947.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "c.8191_8193delCTGinsGTT",
"hgvs_p": "p.Leu2731Val",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277903.1",
"strand": true,
"transcript": "XM_047421947.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 566,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000528280.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "n.462_464delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000528280.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 3726,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000695850.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "n.1592_1594delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000695850.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2054,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000695852.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "n.523_525delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000695852.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 10902,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 37,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000695853.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "n.*1475_*1477delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512218.1",
"strand": true,
"transcript": "ENST00000695853.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 10902,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 37,
"exon_rank": 37,
"exon_rank_end": null,
"feature": "ENST00000695853.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "n.*1475_*1477delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000512218.1",
"strand": true,
"transcript": "ENST00000695853.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 616,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000532149.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "n.*222_*224delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000532149.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 4222,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 1,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000618450.1",
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"hgvs_c": "n.*230_*232delCTGinsGTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000618450.1",
"transcript_support_level": 6
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 20626,
"gene_symbol": "CHD7",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 7.465,
"pos": 60865355,
"ref": "CTG",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_017780.4"
}
]
}