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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: 11-108142545-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=108142545&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PM5",
"PP3_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ACAT1",
"hgnc_id": 93,
"hgvs_c": "c.935T>G",
"hgvs_p": "p.Ile312Arg",
"inheritance_mode": "AR",
"pathogenic_score": 8,
"score": 8,
"transcript": "NM_001386677.1",
"verdict": "Likely_pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Strong"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000285696",
"hgnc_id": null,
"hgvs_c": "n.659A>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 6,
"score": 6,
"transcript": "ENST00000649165.1",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong",
"acmg_score": 8,
"allele_count_reference_population": 2,
"alphamissense_prediction": "Pathogenic",
"alphamissense_score": 0.9746,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"chr": "11",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9881522059440613,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 427,
"aa_ref": "I",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1284,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_000019.4",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.935T>G",
"hgvs_p": "p.Ile312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265838.9",
"protein_coding": true,
"protein_id": "NP_000010.1",
"strand": true,
"transcript": "NM_000019.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 427,
"aa_ref": "I",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1537,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1284,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000265838.9",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.935T>G",
"hgvs_p": "p.Ile312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_000019.4",
"protein_coding": true,
"protein_id": "ENSP00000265838.4",
"strand": true,
"transcript": "ENST00000265838.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000531813.5",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "n.*408T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435965.1",
"strand": true,
"transcript": "ENST00000531813.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2258,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000531813.5",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "n.*408T>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435965.1",
"strand": true,
"transcript": "ENST00000531813.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 435,
"aa_ref": "I",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1511,
"cdna_start": 946,
"cds_end": null,
"cds_length": 1308,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907956.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.935T>G",
"hgvs_p": "p.Ile312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578015.1",
"strand": true,
"transcript": "ENST00000907956.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "I",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1558,
"cdna_start": 975,
"cds_end": null,
"cds_length": 1305,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001386677.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.935T>G",
"hgvs_p": "p.Ile312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001373606.1",
"strand": true,
"transcript": "NM_001386677.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 434,
"aa_ref": "I",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1305,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000672354.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.935T>G",
"hgvs_p": "p.Ile312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000500490.1",
"strand": true,
"transcript": "ENST00000672354.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 429,
"aa_ref": "I",
"aa_start": 314,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1575,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1290,
"cds_start": 941,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000959310.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.941T>G",
"hgvs_p": "p.Ile314Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629369.1",
"strand": true,
"transcript": "ENST00000959310.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 425,
"aa_ref": "I",
"aa_start": 310,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1527,
"cdna_start": 970,
"cds_end": null,
"cds_length": 1278,
"cds_start": 929,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907949.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.929T>G",
"hgvs_p": "p.Ile310Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578008.1",
"strand": true,
"transcript": "ENST00000907949.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 424,
"aa_ref": "I",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1523,
"cdna_start": 966,
"cds_end": null,
"cds_length": 1275,
"cds_start": 926,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907950.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.926T>G",
"hgvs_p": "p.Ile309Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578009.1",
"strand": true,
"transcript": "ENST00000907950.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 422,
"aa_ref": "I",
"aa_start": 312,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 973,
"cds_end": null,
"cds_length": 1269,
"cds_start": 935,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000959311.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.935T>G",
"hgvs_p": "p.Ile312Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629370.1",
"strand": true,
"transcript": "ENST00000959311.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 414,
"aa_ref": "I",
"aa_start": 299,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1493,
"cdna_start": 936,
"cds_end": null,
"cds_length": 1245,
"cds_start": 896,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907951.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.896T>G",
"hgvs_p": "p.Ile299Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578010.1",
"strand": true,
"transcript": "ENST00000907951.1",
"transcript_support_level": null
},
{
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"aa_length": 413,
"aa_ref": "I",
"aa_start": 298,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1483,
"cdna_start": 933,
"cds_end": null,
"cds_length": 1242,
"cds_start": 893,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907954.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.893T>G",
"hgvs_p": "p.Ile298Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578013.1",
"strand": true,
"transcript": "ENST00000907954.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 410,
"aa_ref": "I",
"aa_start": 295,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1519,
"cdna_start": 961,
"cds_end": null,
"cds_length": 1233,
"cds_start": 884,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907943.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.884T>G",
"hgvs_p": "p.Ile295Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578002.1",
"strand": true,
"transcript": "ENST00000907943.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 407,
"aa_ref": "I",
"aa_start": 292,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1501,
"cdna_start": 944,
"cds_end": null,
"cds_length": 1224,
"cds_start": 875,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907944.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.875T>G",
"hgvs_p": "p.Ile292Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578003.1",
"strand": true,
"transcript": "ENST00000907944.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 406,
"aa_ref": "I",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1463,
"cdna_start": 912,
"cds_end": null,
"cds_length": 1221,
"cds_start": 872,
"consequences": [
"missense_variant"
],
"exon_count": 12,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000907953.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.872T>G",
"hgvs_p": "p.Ile291Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578012.1",
"strand": true,
"transcript": "ENST00000907953.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 395,
"aa_ref": "I",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1478,
"cdna_start": 916,
"cds_end": null,
"cds_length": 1188,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907942.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.839T>G",
"hgvs_p": "p.Ile280Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578001.1",
"strand": true,
"transcript": "ENST00000907942.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 395,
"aa_ref": "I",
"aa_start": 280,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1441,
"cdna_start": 879,
"cds_end": null,
"cds_length": 1188,
"cds_start": 839,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907946.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.839T>G",
"hgvs_p": "p.Ile280Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578005.1",
"strand": true,
"transcript": "ENST00000907946.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 379,
"aa_ref": "I",
"aa_start": 264,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1388,
"cdna_start": 831,
"cds_end": null,
"cds_length": 1140,
"cds_start": 791,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000907952.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.791T>G",
"hgvs_p": "p.Ile264Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578011.1",
"strand": true,
"transcript": "ENST00000907952.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "I",
"aa_start": 245,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1336,
"cdna_start": 774,
"cds_end": null,
"cds_length": 1083,
"cds_start": 734,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000907945.1",
"gene_hgnc_id": 93,
"gene_symbol": "ACAT1",
"hgvs_c": "c.734T>G",
"hgvs_p": "p.Ile245Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000578004.1",
"strand": true,
"transcript": "ENST00000907945.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 337,
"aa_ref": "I",
"aa_start": 222,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1623,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1014,
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