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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: 17-43529890-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=43529890&ref=A&alt=G&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": "ETV4",
"hgnc_id": 3493,
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"inheritance_mode": "",
"pathogenic_score": 2,
"score": 0,
"transcript": "NM_001986.4",
"verdict": "Uncertain_significance"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"intron_variant"
],
"gene_symbol": "DHX8",
"hgnc_id": 2749,
"hgvs_c": "c.3444-6522A>G",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001322219.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_score": 0,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": 0.4323,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.42,
"chr": "17",
"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": 0.11579599976539612,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1455,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001079675.5",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000319349.10",
"protein_coding": true,
"protein_id": "NP_001073143.1",
"strand": false,
"transcript": "NM_001079675.5",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2335,
"cdna_start": 1156,
"cds_end": null,
"cds_length": 1455,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000319349.10",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001079675.5",
"protein_coding": true,
"protein_id": "ENSP00000321835.4",
"strand": false,
"transcript": "ENST00000319349.10",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2182,
"cdna_start": 1003,
"cds_end": null,
"cds_length": 1455,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000393664.6",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377273.1",
"strand": false,
"transcript": "ENST00000393664.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1727,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1455,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000591713.5",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000465718.1",
"strand": false,
"transcript": "ENST00000591713.5",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 207,
"aa_ref": "F",
"aa_start": 40,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 917,
"cdna_start": 391,
"cds_end": null,
"cds_length": 624,
"cds_start": 118,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000586826.1",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.118T>C",
"hgvs_p": "p.Phe40Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468636.1",
"strand": false,
"transcript": "ENST00000586826.1",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2299,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1455,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369366.2",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356295.1",
"strand": false,
"transcript": "NM_001369366.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2218,
"cdna_start": 1039,
"cds_end": null,
"cds_length": 1455,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001986.4",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001977.1",
"strand": false,
"transcript": "NM_001986.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2297,
"cdna_start": 1120,
"cds_end": null,
"cds_length": 1455,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000857844.1",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527903.1",
"strand": false,
"transcript": "ENST00000857844.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 484,
"aa_ref": "F",
"aa_start": 317,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2296,
"cdna_start": 1113,
"cds_end": null,
"cds_length": 1455,
"cds_start": 949,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000922775.1",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.949T>C",
"hgvs_p": "p.Phe317Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592834.1",
"strand": false,
"transcript": "ENST00000922775.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 483,
"aa_ref": "F",
"aa_start": 316,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2215,
"cdna_start": 1036,
"cds_end": null,
"cds_length": 1452,
"cds_start": 946,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369367.2",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.946T>C",
"hgvs_p": "p.Phe316Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356296.1",
"strand": false,
"transcript": "NM_001369367.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 479,
"aa_ref": "F",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2203,
"cdna_start": 1024,
"cds_end": null,
"cds_length": 1440,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001369368.2",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.934T>C",
"hgvs_p": "p.Phe312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356297.1",
"strand": false,
"transcript": "NM_001369368.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 479,
"aa_ref": "F",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2318,
"cdna_start": 1138,
"cds_end": null,
"cds_length": 1440,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000857843.1",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.934T>C",
"hgvs_p": "p.Phe312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527902.1",
"strand": false,
"transcript": "ENST00000857843.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
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"aa_length": 479,
"aa_ref": "F",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2405,
"cdna_start": 1222,
"cds_end": null,
"cds_length": 1440,
"cds_start": 934,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000922774.1",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.934T>C",
"hgvs_p": "p.Phe312Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592833.1",
"strand": false,
"transcript": "ENST00000922774.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 464,
"aa_ref": "F",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2355,
"cdna_start": 1173,
"cds_end": null,
"cds_length": 1395,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000922776.1",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.889T>C",
"hgvs_p": "p.Phe297Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592835.1",
"strand": false,
"transcript": "ENST00000922776.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 459,
"aa_ref": "F",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 1081,
"cds_end": null,
"cds_length": 1380,
"cds_start": 874,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000922777.1",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.874T>C",
"hgvs_p": "p.Phe292Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000592836.1",
"strand": false,
"transcript": "ENST00000922777.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "F",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2224,
"cdna_start": 1045,
"cds_end": null,
"cds_length": 1338,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001261437.3",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Phe278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248366.1",
"strand": false,
"transcript": "NM_001261437.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "F",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2107,
"cdna_start": 928,
"cds_end": null,
"cds_length": 1338,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001261438.3",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Phe278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001248367.1",
"strand": false,
"transcript": "NM_001261438.3",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 445,
"aa_ref": "F",
"aa_start": 278,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2147,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1338,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000538265.5",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Phe278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000443846.1",
"strand": false,
"transcript": "ENST00000538265.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
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"aa_length": 445,
"aa_ref": "F",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1775,
"cdna_start": 1028,
"cds_end": null,
"cds_length": 1338,
"cds_start": 832,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000545954.5",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.832T>C",
"hgvs_p": "p.Phe278Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000440023.1",
"strand": false,
"transcript": "ENST00000545954.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 430,
"aa_ref": "F",
"aa_start": 263,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1628,
"cdna_start": 883,
"cds_end": null,
"cds_length": 1293,
"cds_start": 787,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000545089.5",
"gene_hgnc_id": 3493,
"gene_symbol": "ETV4",
"hgvs_c": "c.787T>C",
"hgvs_p": "p.Phe263Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000441749.1",
"strand": false,
"transcript": "ENST00000545089.5",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 425,
"aa_ref": "F",
"aa_start": 258,
"biotype": "protein_coding",
"canonical": false,
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