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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: 13-36965643-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=36965643&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ALG5",
"hgnc_id": 20266,
"hgvs_c": "c.705G>C",
"hgvs_p": "p.Gln235His",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_013338.5",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.9977,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"chr": "13",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Polycystic kidney disease 7",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8544848561286926,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 324,
"aa_ref": "Q",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 745,
"cds_end": null,
"cds_length": 975,
"cds_start": 705,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_013338.5",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.705G>C",
"hgvs_p": "p.Gln235His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000239891.4",
"protein_coding": true,
"protein_id": "NP_037470.1",
"strand": false,
"transcript": "NM_013338.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 324,
"aa_ref": "Q",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1219,
"cdna_start": 745,
"cds_end": null,
"cds_length": 975,
"cds_start": 705,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000239891.4",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.705G>C",
"hgvs_p": "p.Gln235His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_013338.5",
"protein_coding": true,
"protein_id": "ENSP00000239891.3",
"strand": false,
"transcript": "ENST00000239891.4",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 355,
"aa_ref": "Q",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1234,
"cdna_start": 860,
"cds_end": null,
"cds_length": 1068,
"cds_start": 798,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000857206.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.798G>C",
"hgvs_p": "p.Gln266His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527265.1",
"strand": false,
"transcript": "ENST00000857206.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 317,
"aa_ref": "Q",
"aa_start": 228,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1085,
"cdna_start": 721,
"cds_end": null,
"cds_length": 954,
"cds_start": 684,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000857208.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.684G>C",
"hgvs_p": "p.Gln228His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527267.1",
"strand": false,
"transcript": "ENST00000857208.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 310,
"aa_ref": "Q",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3471,
"cdna_start": 737,
"cds_end": null,
"cds_length": 933,
"cds_start": 705,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679572.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.705G>C",
"hgvs_p": "p.Gln235His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505481.1",
"strand": false,
"transcript": "ENST00000679572.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 304,
"aa_ref": "Q",
"aa_start": 215,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1044,
"cdna_start": 685,
"cds_end": null,
"cds_length": 915,
"cds_start": 645,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000680671.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.645G>C",
"hgvs_p": "p.Gln215His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506352.1",
"strand": false,
"transcript": "ENST00000680671.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 294,
"aa_ref": "Q",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1124,
"cdna_start": 682,
"cds_end": null,
"cds_length": 885,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001142364.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.615G>C",
"hgvs_p": "p.Gln205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001135836.1",
"strand": false,
"transcript": "NM_001142364.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 294,
"aa_ref": "Q",
"aa_start": 205,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1021,
"cdna_start": 657,
"cds_end": null,
"cds_length": 885,
"cds_start": 615,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000443765.6",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.615G>C",
"hgvs_p": "p.Gln205His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000390533.1",
"strand": false,
"transcript": "ENST00000443765.6",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 293,
"aa_ref": "Q",
"aa_start": 204,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1065,
"cdna_start": 691,
"cds_end": null,
"cds_length": 882,
"cds_start": 612,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000857204.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.612G>C",
"hgvs_p": "p.Gln204His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527264.1",
"strand": false,
"transcript": "ENST00000857204.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 291,
"aa_ref": "Q",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1384,
"cdna_start": 1013,
"cds_end": null,
"cds_length": 876,
"cds_start": 606,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000681016.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.606G>C",
"hgvs_p": "p.Gln202His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505412.1",
"strand": false,
"transcript": "ENST00000681016.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 291,
"aa_ref": "Q",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1057,
"cdna_start": 684,
"cds_end": null,
"cds_length": 876,
"cds_start": 606,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000681893.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.606G>C",
"hgvs_p": "p.Gln202His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506235.1",
"strand": false,
"transcript": "ENST00000681893.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 286,
"aa_ref": "Q",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 901,
"cdna_start": 631,
"cds_end": null,
"cds_length": 861,
"cds_start": 591,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000679837.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.591G>C",
"hgvs_p": "p.Gln197His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505491.1",
"strand": false,
"transcript": "ENST00000679837.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 266,
"aa_ref": "Q",
"aa_start": 177,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 932,
"cdna_start": 569,
"cds_end": null,
"cds_length": 801,
"cds_start": 531,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000857207.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.531G>C",
"hgvs_p": "p.Gln177His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527266.1",
"strand": false,
"transcript": "ENST00000857207.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 259,
"aa_ref": "Q",
"aa_start": 235,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1023,
"cdna_start": 745,
"cds_end": null,
"cds_length": 780,
"cds_start": 705,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000681763.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.705G>C",
"hgvs_p": "p.Gln235His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506186.1",
"strand": false,
"transcript": "ENST00000681763.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 251,
"aa_ref": "Q",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 960,
"cdna_start": 486,
"cds_end": null,
"cds_length": 756,
"cds_start": 486,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000679673.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.486G>C",
"hgvs_p": "p.Gln162His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505408.1",
"strand": false,
"transcript": "ENST00000679673.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 213,
"aa_ref": "Q",
"aa_start": 124,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 803,
"cdna_start": 429,
"cds_end": null,
"cds_length": 642,
"cds_start": 372,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000939859.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.372G>C",
"hgvs_p": "p.Gln124His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000609918.1",
"strand": false,
"transcript": "ENST00000939859.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 261,
"aa_ref": "Q",
"aa_start": 172,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1067,
"cdna_start": 593,
"cds_end": null,
"cds_length": 786,
"cds_start": 516,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "XM_047430283.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.516G>C",
"hgvs_p": "p.Gln172His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047286239.1",
"strand": false,
"transcript": "XM_047430283.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 171,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3285,
"cdna_start": null,
"cds_end": null,
"cds_length": 516,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000680012.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "c.507+6334G>C",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504993.1",
"strand": false,
"transcript": "ENST00000680012.1",
"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": 687,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000460230.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "n.469G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000460230.1",
"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": 1396,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000496689.2",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "n.922G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000496689.2",
"transcript_support_level": 5
},
{
"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": 1563,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000679760.1",
"gene_hgnc_id": 20266,
"gene_symbol": "ALG5",
"hgvs_c": "n.1282G>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
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