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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: 6-159775311-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=159775311&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 12,
"criteria": [
"BP4_Strong",
"BA1"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "ACAT2",
"hgnc_id": 94,
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Lys240Arg",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 0,
"score": -12,
"transcript": "NM_001303253.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_score": -12,
"allele_count_reference_population": 876430,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0905,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.22,
"chr": "6",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.000828474760055542,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 397,
"aa_ref": "K",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1194,
"cds_start": 632,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_005891.3",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Lys211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367048.5",
"protein_coding": true,
"protein_id": "NP_005882.2",
"strand": true,
"transcript": "NM_005891.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 397,
"aa_ref": "K",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1520,
"cdna_start": 675,
"cds_end": null,
"cds_length": 1194,
"cds_start": 632,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000367048.5",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Lys211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_005891.3",
"protein_coding": true,
"protein_id": "ENSP00000356015.4",
"strand": true,
"transcript": "ENST00000367048.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 426,
"aa_ref": "K",
"aa_start": 240,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1723,
"cdna_start": 878,
"cds_end": null,
"cds_length": 1281,
"cds_start": 719,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001303253.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.719A>G",
"hgvs_p": "p.Lys240Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290182.1",
"strand": true,
"transcript": "NM_001303253.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 406,
"aa_ref": "K",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2282,
"cdna_start": 728,
"cds_end": null,
"cds_length": 1221,
"cds_start": 659,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869581.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Lys220Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539640.1",
"strand": true,
"transcript": "ENST00000869581.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 405,
"aa_ref": "K",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1529,
"cdna_start": 747,
"cds_end": null,
"cds_length": 1218,
"cds_start": 656,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869587.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.656A>G",
"hgvs_p": "p.Lys219Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539646.1",
"strand": true,
"transcript": "ENST00000869587.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 399,
"aa_ref": "K",
"aa_start": 220,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1286,
"cdna_start": 679,
"cds_end": null,
"cds_length": 1200,
"cds_start": 659,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934474.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.659A>G",
"hgvs_p": "p.Lys220Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604533.1",
"strand": true,
"transcript": "ENST00000934474.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 394,
"aa_ref": "K",
"aa_start": 208,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1518,
"cdna_start": 730,
"cds_end": null,
"cds_length": 1185,
"cds_start": 623,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934470.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.623A>G",
"hgvs_p": "p.Lys208Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604529.1",
"strand": true,
"transcript": "ENST00000934470.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 393,
"aa_ref": "K",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1309,
"cdna_start": 682,
"cds_end": null,
"cds_length": 1182,
"cds_start": 620,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869590.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.620A>G",
"hgvs_p": "p.Lys207Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539649.1",
"strand": true,
"transcript": "ENST00000869590.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 390,
"aa_ref": "K",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": 723,
"cds_end": null,
"cds_length": 1173,
"cds_start": 632,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869582.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Lys211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539641.1",
"strand": true,
"transcript": "ENST00000869582.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 388,
"aa_ref": "K",
"aa_start": 202,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1411,
"cdna_start": 635,
"cds_end": null,
"cds_length": 1167,
"cds_start": 605,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934473.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.605A>G",
"hgvs_p": "p.Lys202Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604532.1",
"strand": true,
"transcript": "ENST00000934473.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 378,
"aa_ref": "K",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1442,
"cdna_start": 658,
"cds_end": null,
"cds_length": 1137,
"cds_start": 575,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000934471.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.575A>G",
"hgvs_p": "p.Lys192Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604530.1",
"strand": true,
"transcript": "ENST00000934471.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 376,
"aa_ref": "K",
"aa_start": 190,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1864,
"cdna_start": 649,
"cds_end": null,
"cds_length": 1131,
"cds_start": 569,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869584.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.569A>G",
"hgvs_p": "p.Lys190Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539643.1",
"strand": true,
"transcript": "ENST00000869584.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 371,
"aa_ref": "K",
"aa_start": 185,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1444,
"cdna_start": 661,
"cds_end": null,
"cds_length": 1116,
"cds_start": 554,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869585.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.554A>G",
"hgvs_p": "p.Lys185Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539644.1",
"strand": true,
"transcript": "ENST00000869585.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 360,
"aa_ref": "K",
"aa_start": 211,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1402,
"cdna_start": 716,
"cds_end": null,
"cds_length": 1083,
"cds_start": 632,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000869586.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.632A>G",
"hgvs_p": "p.Lys211Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539645.1",
"strand": true,
"transcript": "ENST00000869586.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 306,
"aa_ref": "K",
"aa_start": 120,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1164,
"cdna_start": 381,
"cds_end": null,
"cds_length": 921,
"cds_start": 359,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869589.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.359A>G",
"hgvs_p": "p.Lys120Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539648.1",
"strand": true,
"transcript": "ENST00000869589.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 297,
"aa_ref": "K",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1634,
"cdna_start": 419,
"cds_end": null,
"cds_length": 894,
"cds_start": 332,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 7,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000869583.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539642.1",
"strand": true,
"transcript": "ENST00000869583.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 260,
"aa_ref": "K",
"aa_start": 111,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1034,
"cdna_start": 363,
"cds_end": null,
"cds_length": 783,
"cds_start": 332,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000942453.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.332A>G",
"hgvs_p": "p.Lys111Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612512.1",
"strand": true,
"transcript": "ENST00000942453.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 349,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1130,
"cdna_start": null,
"cds_end": null,
"cds_length": 1050,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 8,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869591.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.491-839A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539650.1",
"strand": true,
"transcript": "ENST00000869591.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 308,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1186,
"cdna_start": null,
"cds_end": null,
"cds_length": 927,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 7,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869588.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.491-1991A>G",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539647.1",
"strand": true,
"transcript": "ENST00000869588.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 249,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1049,
"cdna_start": null,
"cds_end": null,
"cds_length": 750,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000934472.1",
"gene_hgnc_id": 94,
"gene_symbol": "ACAT2",
"hgvs_c": "c.191-839A>G",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000604531.1",
"strand": true,
"transcript": "ENST00000934472.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1641,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
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