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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: 9-133153634-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=133153634&ref=G&alt=A&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": "GBGT1",
"hgnc_id": 20460,
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Ser329Ser",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_021996.6",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000285245",
"hgnc_id": null,
"hgvs_c": "c.396+1544C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -2,
"transcript": "ENST00000647146.1",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "9",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5799999833106995,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1044,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_021996.6",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Ser329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000372040.9",
"protein_coding": true,
"protein_id": "NP_068836.2",
"strand": false,
"transcript": "NM_021996.6",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1954,
"cdna_start": 1268,
"cds_end": null,
"cds_length": 1044,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000372040.9",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Ser329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_021996.6",
"protein_coding": true,
"protein_id": "ENSP00000361110.3",
"strand": false,
"transcript": "ENST00000372040.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 120,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2870,
"cdna_start": null,
"cds_end": null,
"cds_length": 363,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000470431.5",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.*1540C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000495017.1",
"strand": false,
"transcript": "ENST00000470431.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 985,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3705,
"cdna_start": null,
"cds_end": null,
"cds_length": 2958,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 23,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000647146.1",
"gene_hgnc_id": null,
"gene_symbol": "ENSG00000285245",
"hgvs_c": "c.396+1544C>T",
"hgvs_p": null,
"intron_rank": 6,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000493691.1",
"strand": false,
"transcript": "ENST00000647146.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 370,
"aa_ref": "S",
"aa_start": 352,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1931,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 1113,
"cds_start": 1056,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000953305.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.1056C>T",
"hgvs_p": "p.Ser352Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623364.1",
"strand": false,
"transcript": "ENST00000953305.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 363,
"aa_ref": "S",
"aa_start": 345,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2001,
"cdna_start": 1316,
"cds_end": null,
"cds_length": 1092,
"cds_start": 1035,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000953298.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.1035C>T",
"hgvs_p": "p.Ser345Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623357.1",
"strand": false,
"transcript": "ENST00000953298.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 353,
"aa_ref": "S",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2003,
"cdna_start": 1317,
"cds_end": null,
"cds_length": 1062,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913414.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Ser335Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583473.1",
"strand": false,
"transcript": "ENST00000913414.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 353,
"aa_ref": "S",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1971,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 1062,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000953297.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Ser335Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623356.1",
"strand": false,
"transcript": "ENST00000953297.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 353,
"aa_ref": "S",
"aa_start": 335,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2214,
"cdna_start": 1535,
"cds_end": null,
"cds_length": 1062,
"cds_start": 1005,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000953302.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.1005C>T",
"hgvs_p": "p.Ser335Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623361.1",
"strand": false,
"transcript": "ENST00000953302.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2526,
"cdna_start": 1840,
"cds_end": null,
"cds_length": 1044,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900751.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Ser329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570810.1",
"strand": false,
"transcript": "ENST00000900751.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2006,
"cdna_start": 1325,
"cds_end": null,
"cds_length": 1044,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000913413.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Ser329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583472.1",
"strand": false,
"transcript": "ENST00000913413.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1821,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1044,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000953293.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Ser329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623352.1",
"strand": false,
"transcript": "ENST00000953293.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 347,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1976,
"cdna_start": 1291,
"cds_end": null,
"cds_length": 1044,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000953294.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Ser329Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623353.1",
"strand": false,
"transcript": "ENST00000953294.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 347,
"aa_ref": "S",
"aa_start": 329,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 1517,
"cds_end": null,
"cds_length": 1044,
"cds_start": 987,
"consequences": [
"synonymous_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000953300.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.987C>T",
"hgvs_p": "p.Ser329Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623359.1",
"strand": false,
"transcript": "ENST00000953300.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 346,
"aa_ref": "S",
"aa_start": 328,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1947,
"cdna_start": 1265,
"cds_end": null,
"cds_length": 1041,
"cds_start": 984,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000953301.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.984C>T",
"hgvs_p": "p.Ser328Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623360.1",
"strand": false,
"transcript": "ENST00000953301.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 339,
"aa_ref": "S",
"aa_start": 321,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1244,
"cds_end": null,
"cds_length": 1020,
"cds_start": 963,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900748.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.963C>T",
"hgvs_p": "p.Ser321Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570807.1",
"strand": false,
"transcript": "ENST00000900748.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 339,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1936,
"cdna_start": 1257,
"cds_end": null,
"cds_length": 1020,
"cds_start": 963,
"consequences": [
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],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000953304.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.963C>T",
"hgvs_p": "p.Ser321Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623363.1",
"strand": false,
"transcript": "ENST00000953304.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 330,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1903,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 993,
"cds_start": 936,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001282632.2",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Ser312Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001269561.1",
"strand": false,
"transcript": "NM_001282632.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 330,
"aa_ref": "S",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1449,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 993,
"cds_start": 936,
"consequences": [
"synonymous_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000540636.6",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.936C>T",
"hgvs_p": "p.Ser312Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000437663.1",
"strand": false,
"transcript": "ENST00000540636.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1830,
"cdna_start": 1144,
"cds_end": null,
"cds_length": 927,
"cds_start": 870,
"consequences": [
"synonymous_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000900749.1",
"gene_hgnc_id": 20460,
"gene_symbol": "GBGT1",
"hgvs_c": "c.870C>T",
"hgvs_p": "p.Ser290Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000570808.1",
"strand": false,
"transcript": "ENST00000900749.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 308,
"aa_ref": "S",
"aa_start": 290,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1836,
"cdna_start": 1151,
"cds_end": null,
"cds_length": 927,
"cds_start": 870,
"consequences": [
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