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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: 2-177392837-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=177392837&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "AGPS",
"hgnc_id": 327,
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_003659.4",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "NFE2L2",
"hgnc_id": 7782,
"hgvs_c": "c.-642G>C",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000464747.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000213963",
"hgnc_id": null,
"hgvs_c": "n.-150G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000397057.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "LOC100130691",
"hgnc_id": null,
"hgvs_c": "n.-146G>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "NR_026966.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 1,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "2",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 658,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7633,
"cdna_start": 65,
"cds_end": null,
"cds_length": 1977,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "NM_003659.4",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000264167.11",
"protein_coding": true,
"protein_id": "NP_003650.1",
"strand": true,
"transcript": "NM_003659.4",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 658,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 7633,
"cdna_start": 65,
"cds_end": null,
"cds_length": 1977,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000264167.11",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003659.4",
"protein_coding": true,
"protein_id": "ENSP00000264167.4",
"strand": true,
"transcript": "ENST00000264167.11",
"transcript_support_level": 1
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 676,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2640,
"cdna_start": 65,
"cds_end": null,
"cds_length": 2031,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 21,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000642466.2",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000494433.2",
"strand": true,
"transcript": "ENST00000642466.2",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 657,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5869,
"cdna_start": 85,
"cds_end": null,
"cds_length": 1974,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000927419.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597478.1",
"strand": true,
"transcript": "ENST00000927419.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 638,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2103,
"cdna_start": 92,
"cds_end": null,
"cds_length": 1917,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000679459.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506137.1",
"strand": true,
"transcript": "ENST00000679459.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 634,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5792,
"cdna_start": 77,
"cds_end": null,
"cds_length": 1905,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000927420.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597479.1",
"strand": true,
"transcript": "ENST00000927420.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 631,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3155,
"cdna_start": 65,
"cds_end": null,
"cds_length": 1896,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000884689.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554748.1",
"strand": true,
"transcript": "ENST00000884689.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 629,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2447,
"cdna_start": 92,
"cds_end": null,
"cds_length": 1890,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000637633.2",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000490844.2",
"strand": true,
"transcript": "ENST00000637633.2",
"transcript_support_level": 5
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 628,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3146,
"cdna_start": 65,
"cds_end": null,
"cds_length": 1887,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000884688.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000554747.1",
"strand": true,
"transcript": "ENST00000884688.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 628,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5790,
"cdna_start": 90,
"cds_end": null,
"cds_length": 1887,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000927418.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597477.1",
"strand": true,
"transcript": "ENST00000927418.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 624,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3044,
"cdna_start": 92,
"cds_end": null,
"cds_length": 1875,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000680770.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505536.1",
"strand": true,
"transcript": "ENST00000680770.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 616,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5735,
"cdna_start": 71,
"cds_end": null,
"cds_length": 1851,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 19,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000927421.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597480.1",
"strand": true,
"transcript": "ENST00000927421.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 589,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5652,
"cdna_start": 69,
"cds_end": null,
"cds_length": 1770,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000927422.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597481.1",
"strand": true,
"transcript": "ENST00000927422.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 579,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 262,
"cds_end": null,
"cds_length": 1740,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 18,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000927423.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000597482.1",
"strand": true,
"transcript": "ENST00000927423.1",
"transcript_support_level": null
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 189,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 815,
"cdna_start": 70,
"cds_end": null,
"cds_length": 570,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 5,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000409888.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000386688.1",
"strand": true,
"transcript": "ENST00000409888.1",
"transcript_support_level": 4
},
{
"aa_alt": "G",
"aa_end": null,
"aa_length": 336,
"aa_ref": "G",
"aa_start": 16,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1069,
"cdna_start": 65,
"cds_end": null,
"cds_length": 1011,
"cds_start": 48,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047446105.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "c.48C>G",
"hgvs_p": "p.Gly16Gly",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047302061.1",
"strand": true,
"transcript": "XM_047446105.1",
"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": 2742,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000460342.2",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "n.90C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000460342.2",
"transcript_support_level": 4
},
{
"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": 8603,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 20,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000679421.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "n.78C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000679421.1",
"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": 1143,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000680677.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "n.78C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000680677.1",
"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": 1849,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000680705.1",
"gene_hgnc_id": 327,
"gene_symbol": "AGPS",
"hgvs_c": "n.92C>G",
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