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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: 3-194604337-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=194604337&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM44",
"hgnc_id": 25120,
"hgvs_c": "c.1267G>T",
"hgvs_p": "p.Val423Leu",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001166305.2",
"verdict": "Uncertain_significance"
},
{
"benign_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "LOC105374291",
"hgnc_id": null,
"hgvs_c": "n.706C>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "XR_001741083.2",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": 0.3567,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.4,
"chr": "3",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09047317504882812,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001011655.3",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Val376Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000347147.9",
"protein_coding": true,
"protein_id": "NP_001011655.1",
"strand": false,
"transcript": "NM_001011655.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 428,
"aa_ref": "V",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2342,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1287,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000347147.9",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Val376Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001011655.3",
"protein_coding": true,
"protein_id": "ENSP00000333355.6",
"strand": false,
"transcript": "ENST00000347147.9",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "V",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2490,
"cdna_start": 1473,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000392432.6",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1267G>T",
"hgvs_p": "p.Val423Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000376227.2",
"strand": false,
"transcript": "ENST00000392432.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 438,
"aa_ref": "V",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1508,
"cdna_start": 1236,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000473092.5",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Val376Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000418674.1",
"strand": false,
"transcript": "ENST00000473092.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 197,
"aa_ref": "V",
"aa_start": 134,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1445,
"cdna_start": 400,
"cds_end": null,
"cds_length": 594,
"cds_start": 400,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000432352.5",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.400G>T",
"hgvs_p": "p.Val134Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000409963.1",
"strand": false,
"transcript": "ENST00000432352.5",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 396,
"aa_ref": "G",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2197,
"cdna_start": 1188,
"cds_end": null,
"cds_length": 1191,
"cds_start": 1122,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000381975.7",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1122G>T",
"hgvs_p": "p.Gly374Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000371402.3",
"strand": false,
"transcript": "ENST00000381975.7",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 119,
"aa_ref": "G",
"aa_start": 106,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 452,
"cdna_start": 318,
"cds_end": null,
"cds_length": 360,
"cds_start": 318,
"consequences": [
"synonymous_variant"
],
"exon_count": 4,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000429560.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.318G>T",
"hgvs_p": "p.Gly106Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000403053.1",
"strand": false,
"transcript": "ENST00000429560.1",
"transcript_support_level": 1
},
{
"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": 1899,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000477651.5",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "n.890G>T",
"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": "ENST00000477651.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 475,
"aa_ref": "V",
"aa_start": 423,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2483,
"cdna_start": 1471,
"cds_end": null,
"cds_length": 1428,
"cds_start": 1267,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001166305.2",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1267G>T",
"hgvs_p": "p.Val423Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001159777.1",
"strand": false,
"transcript": "NM_001166305.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 458,
"aa_ref": "V",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1374,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000943214.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613273.1",
"strand": false,
"transcript": "ENST00000943214.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 438,
"aa_ref": "V",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2372,
"cdna_start": 1330,
"cds_end": null,
"cds_length": 1317,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_138399.5",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Val376Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_612408.3",
"strand": false,
"transcript": "NM_138399.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 435,
"aa_ref": "V",
"aa_start": 383,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2476,
"cdna_start": 1464,
"cds_end": null,
"cds_length": 1308,
"cds_start": 1147,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000943212.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.1147G>T",
"hgvs_p": "p.Val383Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613271.1",
"strand": false,
"transcript": "ENST00000943212.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 382,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2264,
"cdna_start": 1225,
"cds_end": null,
"cds_length": 1149,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000943213.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.955G>T",
"hgvs_p": "p.Val319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613272.1",
"strand": false,
"transcript": "ENST00000943213.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 381,
"aa_ref": "V",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 1159,
"cds_end": null,
"cds_length": 1146,
"cds_start": 985,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000936589.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.985G>T",
"hgvs_p": "p.Val329Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606648.1",
"strand": false,
"transcript": "ENST00000936589.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 373,
"aa_ref": "V",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2047,
"cdna_start": 1012,
"cds_end": null,
"cds_length": 1122,
"cds_start": 928,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000943216.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.928G>T",
"hgvs_p": "p.Val310Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613275.1",
"strand": false,
"transcript": "ENST00000943216.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 371,
"aa_ref": "V",
"aa_start": 319,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2141,
"cdna_start": 1129,
"cds_end": null,
"cds_length": 1116,
"cds_start": 955,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000936587.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.955G>T",
"hgvs_p": "p.Val319Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606646.1",
"strand": false,
"transcript": "ENST00000936587.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 339,
"aa_ref": "V",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1977,
"cdna_start": 934,
"cds_end": null,
"cds_length": 1020,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000943215.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Val276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000613274.1",
"strand": false,
"transcript": "ENST00000943215.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 328,
"aa_ref": "V",
"aa_start": 276,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 972,
"cds_end": null,
"cds_length": 987,
"cds_start": 826,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000870306.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.826G>T",
"hgvs_p": "p.Val276Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000540365.1",
"strand": false,
"transcript": "ENST00000870306.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 293,
"aa_ref": "V",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1907,
"cdna_start": 898,
"cds_end": null,
"cds_length": 882,
"cds_start": 721,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000936588.1",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.721G>T",
"hgvs_p": "p.Val241Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000606647.1",
"strand": false,
"transcript": "ENST00000936588.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 261,
"aa_ref": "V",
"aa_start": 209,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 846,
"cdna_start": 625,
"cds_end": null,
"cds_length": 786,
"cds_start": 625,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000452358.5",
"gene_hgnc_id": 25120,
"gene_symbol": "TMEM44",
"hgvs_c": "c.625G>T",
"hgvs_p": "p.Val209Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000414333.1",
"strand": false,
"transcript": "ENST00000452358.5",
"transcript_support_level": 3
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 396,
"aa_ref": "G",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2338,
"cdna_start": 1326,
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