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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: 7-111728658-GT-CG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=111728658&ref=GT&alt=CG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "DOCK4",
"hgnc_id": 19192,
"hgvs_c": "c.5543_5544delACinsCG",
"hgvs_p": "p.Asn1848Thr",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001363540.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "CG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "7",
"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": "T",
"aa_end": null,
"aa_length": 1975,
"aa_ref": "N",
"aa_start": 1848,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8353,
"cdna_start": 5805,
"cds_end": null,
"cds_length": 5928,
"cds_start": 5543,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001363540.2",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5543_5544delACinsCG",
"hgvs_p": "p.Asn1848Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000428084.6",
"protein_coding": true,
"protein_id": "NP_001350469.1",
"strand": false,
"transcript": "NM_001363540.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1975,
"aa_ref": "N",
"aa_start": 1848,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8353,
"cdna_start": 5805,
"cds_end": null,
"cds_length": 5928,
"cds_start": 5543,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000428084.6",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5543_5544delACinsCG",
"hgvs_p": "p.Asn1848Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001363540.2",
"protein_coding": true,
"protein_id": "ENSP00000410746.1",
"strand": false,
"transcript": "ENST00000428084.6",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1966,
"aa_ref": "N",
"aa_start": 1839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8326,
"cdna_start": 5778,
"cds_end": null,
"cds_length": 5901,
"cds_start": 5516,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437633.6",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5516_5517delACinsCG",
"hgvs_p": "p.Asn1839Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000404179.1",
"strand": false,
"transcript": "ENST00000437633.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1388,
"aa_ref": "N",
"aa_start": 1261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6333,
"cdna_start": 3785,
"cds_end": null,
"cds_length": 4167,
"cds_start": 3782,
"consequences": [
"missense_variant"
],
"exon_count": 36,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000423057.6",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.3782_3783delACinsCG",
"hgvs_p": "p.Asn1261Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000412834.1",
"strand": false,
"transcript": "ENST00000423057.6",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1998,
"aa_ref": "N",
"aa_start": 1871,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5999,
"cdna_start": 5615,
"cds_end": null,
"cds_length": 5997,
"cds_start": 5612,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000445943.5",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5612_5613delACinsCG",
"hgvs_p": "p.Asn1871Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397412.1",
"strand": false,
"transcript": "ENST00000445943.5",
"transcript_support_level": 5
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1966,
"aa_ref": "N",
"aa_start": 1839,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8326,
"cdna_start": 5778,
"cds_end": null,
"cds_length": 5901,
"cds_start": 5516,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_014705.4",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5516_5517delACinsCG",
"hgvs_p": "p.Asn1839Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_055520.3",
"strand": false,
"transcript": "NM_014705.4",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 897,
"aa_ref": "N",
"aa_start": 770,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4815,
"cdna_start": 2311,
"cds_end": null,
"cds_length": 2694,
"cds_start": 2309,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000658652.1",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.2309_2310delACinsCG",
"hgvs_p": "p.Asn770Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499282.1",
"strand": false,
"transcript": "ENST00000658652.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 849,
"aa_ref": "N",
"aa_start": 722,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4206,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 2550,
"cds_start": 2165,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000450156.6",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.2165_2166delACinsCG",
"hgvs_p": "p.Asn722Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406468.2",
"strand": false,
"transcript": "ENST00000450156.6",
"transcript_support_level": 4
},
{
"aa_alt": "HV",
"aa_end": null,
"aa_length": 680,
"aa_ref": "QL",
"aa_start": 654,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3817,
"cdna_start": 1983,
"cds_end": null,
"cds_length": 2043,
"cds_start": 1962,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000664131.1",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.1962_1963delACinsCG",
"hgvs_p": "p.GlnLeu654HisVal",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000499490.1",
"strand": false,
"transcript": "ENST00000664131.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 2006,
"aa_ref": "N",
"aa_start": 1879,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8750,
"cdna_start": 6202,
"cds_end": null,
"cds_length": 6021,
"cds_start": 5636,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012819.2",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5636_5637delACinsCG",
"hgvs_p": "p.Asn1879Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868308.1",
"strand": false,
"transcript": "XM_017012819.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1997,
"aa_ref": "N",
"aa_start": 1870,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8722,
"cdna_start": 6174,
"cds_end": null,
"cds_length": 5994,
"cds_start": 5609,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012820.2",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5609_5610delACinsCG",
"hgvs_p": "p.Asn1870Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868309.1",
"strand": false,
"transcript": "XM_017012820.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1988,
"aa_ref": "N",
"aa_start": 1861,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8697,
"cdna_start": 6149,
"cds_end": null,
"cds_length": 5967,
"cds_start": 5582,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012821.2",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5582_5583delACinsCG",
"hgvs_p": "p.Asn1861Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868310.1",
"strand": false,
"transcript": "XM_017012821.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1986,
"aa_ref": "N",
"aa_start": 1859,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13256,
"cdna_start": 10708,
"cds_end": null,
"cds_length": 5961,
"cds_start": 5576,
"consequences": [
"missense_variant"
],
"exon_count": 53,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012822.2",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5576_5577delACinsCG",
"hgvs_p": "p.Asn1859Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868311.1",
"strand": false,
"transcript": "XM_017012822.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1979,
"aa_ref": "N",
"aa_start": 1852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8669,
"cdna_start": 6121,
"cds_end": null,
"cds_length": 5940,
"cds_start": 5555,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421078.1",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5555_5556delACinsCG",
"hgvs_p": "p.Asn1852Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277034.1",
"strand": false,
"transcript": "XM_047421078.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1977,
"aa_ref": "N",
"aa_start": 1850,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 13228,
"cdna_start": 10680,
"cds_end": null,
"cds_length": 5934,
"cds_start": 5549,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421079.1",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5549_5550delACinsCG",
"hgvs_p": "p.Asn1850Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277035.1",
"strand": false,
"transcript": "XM_047421079.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1968,
"aa_ref": "N",
"aa_start": 1841,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8637,
"cdna_start": 6089,
"cds_end": null,
"cds_length": 5907,
"cds_start": 5522,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012823.2",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5522_5523delACinsCG",
"hgvs_p": "p.Asn1841Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868312.1",
"strand": false,
"transcript": "XM_017012823.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1959,
"aa_ref": "N",
"aa_start": 1832,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8609,
"cdna_start": 6061,
"cds_end": null,
"cds_length": 5880,
"cds_start": 5495,
"consequences": [
"missense_variant"
],
"exon_count": 51,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012824.2",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5495_5496delACinsCG",
"hgvs_p": "p.Asn1832Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868313.1",
"strand": false,
"transcript": "XM_017012824.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1950,
"aa_ref": "N",
"aa_start": 1823,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8583,
"cdna_start": 6035,
"cds_end": null,
"cds_length": 5853,
"cds_start": 5468,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_017012825.2",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5468_5469delACinsCG",
"hgvs_p": "p.Asn1823Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016868314.1",
"strand": false,
"transcript": "XM_017012825.2",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1948,
"aa_ref": "N",
"aa_start": 1821,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8272,
"cdna_start": 5724,
"cds_end": null,
"cds_length": 5847,
"cds_start": 5462,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047421081.1",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5462_5463delACinsCG",
"hgvs_p": "p.Asn1821Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047277037.1",
"strand": false,
"transcript": "XM_047421081.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1937,
"aa_ref": "N",
"aa_start": 1810,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8239,
"cdna_start": 5691,
"cds_end": null,
"cds_length": 5814,
"cds_start": 5429,
"consequences": [
"missense_variant"
],
"exon_count": 52,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_006716189.3",
"gene_hgnc_id": 19192,
"gene_symbol": "DOCK4",
"hgvs_c": "c.5429_5430delACinsCG",
"hgvs_p": "p.Asn1810Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006716252.1",
"strand": false,
"transcript": "XM_006716189.3",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 1899,
"aa_ref": "N",
"aa_start": 1772,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8624,
"cdna_start": 6076,
"cds_end": null,
"cds_length": 5700,
"cds_start": 5315,
"consequences": [
"missense_variant"
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