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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: 3-37296147-CTT-TTC (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=37296147&ref=CTT&alt=TTC&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [],
"effects": [
"missense_variant"
],
"gene_symbol": "GOLGA4",
"hgnc_id": 4427,
"hgvs_c": "c.859_861delCTTinsTTC",
"hgvs_p": "p.Leu287Phe",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": 0,
"transcript": "NM_001429190.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "",
"acmg_score": 0,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "TTC",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "3",
"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": "F",
"aa_end": null,
"aa_length": 2230,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7806,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 6693,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002078.5",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.742_744delCTTinsTTC",
"hgvs_p": "p.Leu248Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000361924.7",
"protein_coding": true,
"protein_id": "NP_002069.2",
"strand": true,
"transcript": "NM_002078.5",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2230,
"aa_ref": "L",
"aa_start": 248,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7806,
"cdna_start": 1022,
"cds_end": null,
"cds_length": 6693,
"cds_start": 742,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000361924.7",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.742_744delCTTinsTTC",
"hgvs_p": "p.Leu248Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_002078.5",
"protein_coding": true,
"protein_id": "ENSP00000354486.2",
"strand": true,
"transcript": "ENST00000361924.7",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2250,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7732,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 6753,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000437131.2",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.808_810delCTTinsTTC",
"hgvs_p": "p.Leu270Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000405842.2",
"strand": true,
"transcript": "ENST00000437131.2",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2243,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7673,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 6732,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000356847.8",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.808_810delCTTinsTTC",
"hgvs_p": "p.Leu270Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000349305.4",
"strand": true,
"transcript": "ENST00000356847.8",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 584,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2036,
"cdna_start": null,
"cds_end": null,
"cds_length": 1756,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000429018.5",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.228+22546_228+22548delCTTinsTTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403009.1",
"strand": true,
"transcript": "ENST00000429018.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 166,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1451,
"cdna_start": null,
"cds_end": null,
"cds_length": 501,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000444882.5",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.477+13875_477+13877delCTTinsTTC",
"hgvs_p": null,
"intron_rank": 3,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000406894.1",
"strand": true,
"transcript": "ENST00000444882.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 4152,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000435830.6",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "n.2063_2065delCTTinsTTC",
"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": "ENST00000435830.6",
"transcript_support_level": 1
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2285,
"aa_ref": "L",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7858,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 6858,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 26,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000431105.2",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.907_909delCTTinsTTC",
"hgvs_p": "p.Leu303Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392907.2",
"strand": true,
"transcript": "ENST00000431105.2",
"transcript_support_level": 3
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2283,
"aa_ref": "L",
"aa_start": 303,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7908,
"cdna_start": 1187,
"cds_end": null,
"cds_length": 6852,
"cds_start": 907,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000706569.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.907_909delCTTinsTTC",
"hgvs_p": "p.Leu303Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000516454.1",
"strand": true,
"transcript": "ENST00000706569.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2267,
"aa_ref": "L",
"aa_start": 287,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7732,
"cdna_start": 1139,
"cds_end": null,
"cds_length": 6804,
"cds_start": 859,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001429190.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.859_861delCTTinsTTC",
"hgvs_p": "p.Leu287Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001416119.1",
"strand": true,
"transcript": "NM_001429190.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2252,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7744,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 6759,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001429191.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.808_810delCTTinsTTC",
"hgvs_p": "p.Leu270Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001416120.1",
"strand": true,
"transcript": "NM_001429191.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2252,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7785,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 6759,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699995.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.808_810delCTTinsTTC",
"hgvs_p": "p.Leu270Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514745.1",
"strand": true,
"transcript": "ENST00000699995.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2250,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7681,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 6753,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001410721.2",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.808_810delCTTinsTTC",
"hgvs_p": "p.Leu270Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397650.1",
"strand": true,
"transcript": "NM_001410721.2",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2245,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7693,
"cdna_start": 1140,
"cds_end": null,
"cds_length": 6738,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699994.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.808_810delCTTinsTTC",
"hgvs_p": "p.Leu270Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514744.1",
"strand": true,
"transcript": "ENST00000699994.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2245,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7629,
"cdna_start": 994,
"cds_end": null,
"cds_length": 6738,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000699996.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.808_810delCTTinsTTC",
"hgvs_p": "p.Leu270Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000514746.1",
"strand": true,
"transcript": "ENST00000699996.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2243,
"aa_ref": "L",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7660,
"cdna_start": 1088,
"cds_end": null,
"cds_length": 6732,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001172713.3",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.808_810delCTTinsTTC",
"hgvs_p": "p.Leu270Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166184.1",
"strand": true,
"transcript": "NM_001172713.3",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2243,
"aa_ref": "L",
"aa_start": 261,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7727,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 6732,
"cds_start": 781,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918083.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.781_783delCTTinsTTC",
"hgvs_p": "p.Leu261Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588142.1",
"strand": true,
"transcript": "ENST00000918083.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2242,
"aa_ref": "L",
"aa_start": 260,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7719,
"cdna_start": 1065,
"cds_end": null,
"cds_length": 6729,
"cds_start": 778,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918084.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.778_780delCTTinsTTC",
"hgvs_p": "p.Leu260Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588143.1",
"strand": true,
"transcript": "ENST00000918084.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2236,
"aa_ref": "L",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7696,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 6711,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001429196.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.760_762delCTTinsTTC",
"hgvs_p": "p.Leu254Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001416125.1",
"strand": true,
"transcript": "NM_001429196.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2236,
"aa_ref": "L",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7769,
"cdna_start": 1114,
"cds_end": null,
"cds_length": 6711,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000918080.1",
"gene_hgnc_id": 4427,
"gene_symbol": "GOLGA4",
"hgvs_c": "c.760_762delCTTinsTTC",
"hgvs_p": "p.Leu254Phe",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588139.1",
"strand": true,
"transcript": "ENST00000918080.1",
"transcript_support_level": null
},
{
"aa_alt": "F",
"aa_end": null,
"aa_length": 2234,
"aa_ref": "L",
"aa_start": 254,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7633,
"cdna_start": 1040,
"cds_end": null,
"cds_length": 6705,
"cds_start": 760,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001429198.1",
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