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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: 17-78202747-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=78202747&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "AFMID",
"hgnc_id": 20910,
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_001145526.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 33,
"alphamissense_prediction": null,
"alphamissense_score": 0.3954,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"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": 0.32016801834106445,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 303,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 313,
"cds_end": null,
"cds_length": 912,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001010982.5",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000409257.10",
"protein_coding": true,
"protein_id": "NP_001010982.2",
"strand": true,
"transcript": "NM_001010982.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 303,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1686,
"cdna_start": 313,
"cds_end": null,
"cds_length": 912,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000409257.10",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001010982.5",
"protein_coding": true,
"protein_id": "ENSP00000386890.4",
"strand": true,
"transcript": "ENST00000409257.10",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": 313,
"cds_end": null,
"cds_length": 927,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000327898.9",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000328938.5",
"strand": true,
"transcript": "ENST00000327898.9",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 334,
"aa_ref": "G",
"aa_start": 133,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1778,
"cdna_start": 406,
"cds_end": null,
"cds_length": 1005,
"cds_start": 397,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857474.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.397G>A",
"hgvs_p": "p.Gly133Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527533.1",
"strand": true,
"transcript": "ENST00000857474.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 332,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1762,
"cdna_start": 311,
"cds_end": null,
"cds_length": 999,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857484.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527543.1",
"strand": true,
"transcript": "ENST00000857484.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 327,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1753,
"cdna_start": 316,
"cds_end": null,
"cds_length": 984,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000965675.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000635734.1",
"strand": true,
"transcript": "ENST00000965675.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 322,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1776,
"cdna_start": 345,
"cds_end": null,
"cds_length": 969,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857463.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527522.1",
"strand": true,
"transcript": "ENST00000857463.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 320,
"aa_ref": "G",
"aa_start": 119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1737,
"cdna_start": 364,
"cds_end": null,
"cds_length": 963,
"cds_start": 355,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000857469.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Gly119Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527528.1",
"strand": true,
"transcript": "ENST00000857469.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 314,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1717,
"cdna_start": 313,
"cds_end": null,
"cds_length": 945,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857477.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527536.1",
"strand": true,
"transcript": "ENST00000857477.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 309,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1704,
"cdna_start": 316,
"cds_end": null,
"cds_length": 930,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857470.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527529.1",
"strand": true,
"transcript": "ENST00000857470.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 308,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1701,
"cdna_start": 313,
"cds_end": null,
"cds_length": 927,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001145526.3",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001138998.1",
"strand": true,
"transcript": "NM_001145526.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 305,
"aa_ref": "G",
"aa_start": 104,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1690,
"cdna_start": 319,
"cds_end": null,
"cds_length": 918,
"cds_start": 310,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857478.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.310G>A",
"hgvs_p": "p.Gly104Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527537.1",
"strand": true,
"transcript": "ENST00000857478.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 304,
"aa_ref": "G",
"aa_start": 103,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1722,
"cdna_start": 348,
"cds_end": null,
"cds_length": 915,
"cds_start": 307,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857464.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Gly103Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527523.1",
"strand": true,
"transcript": "ENST00000857464.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1594,
"cdna_start": 208,
"cds_end": null,
"cds_length": 822,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857480.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527539.1",
"strand": true,
"transcript": "ENST00000857480.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 273,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1592,
"cdna_start": 311,
"cds_end": null,
"cds_length": 822,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857481.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527540.1",
"strand": true,
"transcript": "ENST00000857481.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 268,
"aa_ref": "G",
"aa_start": 67,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1585,
"cdna_start": 212,
"cds_end": null,
"cds_length": 807,
"cds_start": 199,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000857465.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.199G>A",
"hgvs_p": "p.Gly67Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527524.1",
"strand": true,
"transcript": "ENST00000857465.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 255,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1540,
"cdna_start": 313,
"cds_end": null,
"cds_length": 768,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857479.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527538.1",
"strand": true,
"transcript": "ENST00000857479.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 250,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 313,
"cds_end": null,
"cds_length": 753,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857483.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527542.1",
"strand": true,
"transcript": "ENST00000857483.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 240,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1550,
"cdna_start": 313,
"cds_end": null,
"cds_length": 723,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001391999.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001378928.1",
"strand": true,
"transcript": "NM_001391999.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 226,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1457,
"cdna_start": 317,
"cds_end": null,
"cds_length": 681,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 9,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000857466.1",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000527525.1",
"strand": true,
"transcript": "ENST00000857466.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 205,
"aa_ref": "G",
"aa_start": 102,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 631,
"cdna_start": 317,
"cds_end": null,
"cds_length": 618,
"cds_start": 304,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000591256.5",
"gene_hgnc_id": 20910,
"gene_symbol": "AFMID",
"hgvs_c": "c.304G>A",
"hgvs_p": "p.Gly102Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000466515.1",
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