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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: 18-46505974-CCC-ACG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=46505974&ref=CCC&alt=ACG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "LOXHD1",
"hgnc_id": 26521,
"hgvs_c": "c.5740_5742delGGGinsCGT",
"hgvs_p": "p.Gly1914Arg",
"inheritance_mode": "AR,AD",
"pathogenic_score": 1,
"score": 1,
"transcript": "NM_001384474.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_score": 1,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "ACG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "18",
"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": "R",
"aa_end": null,
"aa_length": 2273,
"aa_ref": "G",
"aa_start": 1914,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7208,
"cdna_start": 5929,
"cds_end": null,
"cds_length": 6822,
"cds_start": 5740,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001384474.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.5740_5742delGGGinsCGT",
"hgvs_p": "p.Gly1914Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000642948.1",
"protein_coding": true,
"protein_id": "NP_001371403.1",
"strand": false,
"transcript": "NM_001384474.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2273,
"aa_ref": "G",
"aa_start": 1914,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7208,
"cdna_start": 5929,
"cds_end": null,
"cds_length": 6822,
"cds_start": 5740,
"consequences": [
"missense_variant"
],
"exon_count": 41,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000642948.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.5740_5742delGGGinsCGT",
"hgvs_p": "p.Gly1914Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001384474.1",
"protein_coding": true,
"protein_id": "ENSP00000496347.1",
"strand": false,
"transcript": "ENST00000642948.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "G",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3968,
"cdna_start": 2823,
"cds_end": null,
"cds_length": 3345,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000300591.11",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.2407_2409delGGGinsCGT",
"hgvs_p": "p.Gly803Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000300591.6",
"strand": false,
"transcript": "ENST00000300591.11",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "G",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3633,
"cdna_start": 2472,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000579038.6",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.2119_2121delGGGinsCGT",
"hgvs_p": "p.Gly707Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000463285.1",
"strand": false,
"transcript": "ENST00000579038.6",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 512,
"aa_ref": "G",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1539,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398686.8",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.457_459delGGGinsCGT",
"hgvs_p": "p.Gly153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381676.4",
"strand": false,
"transcript": "ENST00000398686.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2211,
"aa_ref": "G",
"aa_start": 1852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7022,
"cdna_start": 5743,
"cds_end": null,
"cds_length": 6636,
"cds_start": 5554,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_144612.7",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.5554_5556delGGGinsCGT",
"hgvs_p": "p.Gly1852Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653213.6",
"strand": false,
"transcript": "NM_144612.7",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2211,
"aa_ref": "G",
"aa_start": 1852,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6848,
"cdna_start": 5556,
"cds_end": null,
"cds_length": 6636,
"cds_start": 5554,
"consequences": [
"missense_variant"
],
"exon_count": 40,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000536736.5",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.5554_5556delGGGinsCGT",
"hgvs_p": "p.Gly1852Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000444586.1",
"strand": false,
"transcript": "ENST00000536736.5",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 2067,
"aa_ref": "G",
"aa_start": 1708,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6226,
"cdna_start": 5124,
"cds_end": null,
"cds_length": 6204,
"cds_start": 5122,
"consequences": [
"missense_variant"
],
"exon_count": 39,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000441551.6",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.5122_5124delGGGinsCGT",
"hgvs_p": "p.Gly1708Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000387621.2",
"strand": false,
"transcript": "ENST00000441551.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "G",
"aa_start": 803,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3981,
"cdna_start": 2823,
"cds_end": null,
"cds_length": 3345,
"cds_start": 2407,
"consequences": [
"missense_variant"
],
"exon_count": 24,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145472.3",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.2407_2409delGGGinsCGT",
"hgvs_p": "p.Gly803Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138944.1",
"strand": false,
"transcript": "NM_001145472.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1100,
"aa_ref": "G",
"aa_start": 741,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 2463,
"cds_end": null,
"cds_length": 3303,
"cds_start": 2221,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000582408.6",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.2221_2223delGGGinsCGT",
"hgvs_p": "p.Gly741Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000461964.1",
"strand": false,
"transcript": "ENST00000582408.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1011,
"aa_ref": "G",
"aa_start": 707,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3644,
"cdna_start": 2472,
"cds_end": null,
"cds_length": 3036,
"cds_start": 2119,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001308013.2",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.2119_2121delGGGinsCGT",
"hgvs_p": "p.Gly707Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001294942.1",
"strand": false,
"transcript": "NM_001308013.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 512,
"aa_ref": "G",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1958,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1539,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001145473.3",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.457_459delGGGinsCGT",
"hgvs_p": "p.Gly153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138945.1",
"strand": false,
"transcript": "NM_001145473.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 457,
"aa_ref": "G",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1851,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1374,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001173129.2",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.457_459delGGGinsCGT",
"hgvs_p": "p.Gly153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001166600.1",
"strand": false,
"transcript": "NM_001173129.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 457,
"aa_ref": "G",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1831,
"cdna_start": 670,
"cds_end": null,
"cds_length": 1374,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000398705.7",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.457_459delGGGinsCGT",
"hgvs_p": "p.Gly153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000381692.2",
"strand": false,
"transcript": "ENST00000398705.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 179,
"aa_ref": "G",
"aa_start": 153,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 675,
"cdna_start": 593,
"cds_end": null,
"cds_length": 541,
"cds_start": 457,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000414184.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.457_459delGGGinsCGT",
"hgvs_p": "p.Gly153Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000392440.1",
"strand": false,
"transcript": "ENST00000414184.1",
"transcript_support_level": 3
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1925,
"aa_ref": "G",
"aa_start": 1566,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6076,
"cdna_start": 4797,
"cds_end": null,
"cds_length": 5778,
"cds_start": 4696,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437289.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.4696_4698delGGGinsCGT",
"hgvs_p": "p.Gly1566Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293245.1",
"strand": false,
"transcript": "XM_047437289.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1768,
"aa_ref": "G",
"aa_start": 1636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5538,
"cdna_start": 5055,
"cds_end": null,
"cds_length": 5307,
"cds_start": 4906,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437290.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.4906_4908delGGGinsCGT",
"hgvs_p": "p.Gly1636Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293246.1",
"strand": false,
"transcript": "XM_047437290.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1765,
"aa_ref": "G",
"aa_start": 1636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7090,
"cdna_start": 5055,
"cds_end": null,
"cds_length": 5298,
"cds_start": 4906,
"consequences": [
"missense_variant"
],
"exon_count": 33,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437291.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.4906_4908delGGGinsCGT",
"hgvs_p": "p.Gly1636Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293247.1",
"strand": false,
"transcript": "XM_047437291.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1741,
"aa_ref": "G",
"aa_start": 1636,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5450,
"cdna_start": 5055,
"cds_end": null,
"cds_length": 5226,
"cds_start": 4906,
"consequences": [
"missense_variant"
],
"exon_count": 32,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047437292.1",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.4906_4908delGGGinsCGT",
"hgvs_p": "p.Gly1636Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047293248.1",
"strand": false,
"transcript": "XM_047437292.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1660,
"aa_ref": "G",
"aa_start": 1301,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5251,
"cdna_start": 3972,
"cds_end": null,
"cds_length": 4983,
"cds_start": 3901,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_011525804.3",
"gene_hgnc_id": 26521,
"gene_symbol": "LOXHD1",
"hgvs_c": "c.3901_3903delGGGinsCGT",
"hgvs_p": "p.Gly1301Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_011524106.1",
"strand": false,
"transcript": "XM_011525804.3",
"transcript_support_level": null
},
{
"aa_alt": "TV",
"aa_end": null,
"aa_length": 1635,
"aa_ref": "TG",
"aa_start": 1628,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5153,
"cdna_start": 5033,
"cds_end": null,
"cds_length": 4908,
"cds_start": 4884,
"consequences": [
"missense_variant"
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