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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: 6-159775175-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=159775175&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 159775175,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001303253.1",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Asn166His",
"transcript": "NM_005891.3",
"protein_id": "NP_005882.2",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 397,
"cds_start": 496,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000367048.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005891.3"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Asn166His",
"transcript": "ENST00000367048.5",
"protein_id": "ENSP00000356015.4",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 397,
"cds_start": 496,
"cds_end": null,
"cds_length": 1194,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005891.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367048.5"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.583A>C",
"hgvs_p": "p.Asn195His",
"transcript": "NM_001303253.1",
"protein_id": "NP_001290182.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 426,
"cds_start": 583,
"cds_end": null,
"cds_length": 1281,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303253.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Asn175His",
"transcript": "ENST00000869581.1",
"protein_id": "ENSP00000539640.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 406,
"cds_start": 523,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869581.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.520A>C",
"hgvs_p": "p.Asn174His",
"transcript": "ENST00000869587.1",
"protein_id": "ENSP00000539646.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 405,
"cds_start": 520,
"cds_end": null,
"cds_length": 1218,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869587.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.523A>C",
"hgvs_p": "p.Asn175His",
"transcript": "ENST00000934474.1",
"protein_id": "ENSP00000604533.1",
"transcript_support_level": null,
"aa_start": 175,
"aa_end": null,
"aa_length": 399,
"cds_start": 523,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934474.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.487A>C",
"hgvs_p": "p.Asn163His",
"transcript": "ENST00000934470.1",
"protein_id": "ENSP00000604529.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 394,
"cds_start": 487,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934470.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Asn166His",
"transcript": "ENST00000869582.1",
"protein_id": "ENSP00000539641.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 390,
"cds_start": 496,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869582.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.439A>C",
"hgvs_p": "p.Asn147His",
"transcript": "ENST00000934471.1",
"protein_id": "ENSP00000604530.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 378,
"cds_start": 439,
"cds_end": null,
"cds_length": 1137,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934471.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.433A>C",
"hgvs_p": "p.Asn145His",
"transcript": "ENST00000869584.1",
"protein_id": "ENSP00000539643.1",
"transcript_support_level": null,
"aa_start": 145,
"aa_end": null,
"aa_length": 376,
"cds_start": 433,
"cds_end": null,
"cds_length": 1131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869584.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.418A>C",
"hgvs_p": "p.Asn140His",
"transcript": "ENST00000869585.1",
"protein_id": "ENSP00000539644.1",
"transcript_support_level": null,
"aa_start": 140,
"aa_end": null,
"aa_length": 371,
"cds_start": 418,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869585.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.496A>C",
"hgvs_p": "p.Asn166His",
"transcript": "ENST00000869586.1",
"protein_id": "ENSP00000539645.1",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 360,
"cds_start": 496,
"cds_end": null,
"cds_length": 1083,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869586.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.223A>C",
"hgvs_p": "p.Asn75His",
"transcript": "ENST00000869589.1",
"protein_id": "ENSP00000539648.1",
"transcript_support_level": null,
"aa_start": 75,
"aa_end": null,
"aa_length": 306,
"cds_start": 223,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869589.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Asn66His",
"transcript": "ENST00000869583.1",
"protein_id": "ENSP00000539642.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 297,
"cds_start": 196,
"cds_end": null,
"cds_length": 894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869583.1"
},
{
"aa_ref": "N",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.196A>C",
"hgvs_p": "p.Asn66His",
"transcript": "ENST00000942453.1",
"protein_id": "ENSP00000612512.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 260,
"cds_start": 196,
"cds_end": null,
"cds_length": 783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942453.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.491-7A>C",
"hgvs_p": null,
"transcript": "ENST00000869590.1",
"protein_id": "ENSP00000539649.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 393,
"cds_start": null,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869590.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.491-22A>C",
"hgvs_p": null,
"transcript": "ENST00000934473.1",
"protein_id": "ENSP00000604532.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 388,
"cds_start": null,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934473.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.491-975A>C",
"hgvs_p": null,
"transcript": "ENST00000869591.1",
"protein_id": "ENSP00000539650.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 349,
"cds_start": null,
"cds_end": null,
"cds_length": 1050,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869591.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.491-2127A>C",
"hgvs_p": null,
"transcript": "ENST00000869588.1",
"protein_id": "ENSP00000539647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 308,
"cds_start": null,
"cds_end": null,
"cds_length": 927,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869588.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "c.191-975A>C",
"hgvs_p": null,
"transcript": "ENST00000934472.1",
"protein_id": "ENSP00000604531.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 249,
"cds_start": null,
"cds_end": null,
"cds_length": 750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934472.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "n.724A>C",
"hgvs_p": null,
"transcript": "ENST00000467951.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000467951.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"hgvs_c": "n.-111A>C",
"hgvs_p": null,
"transcript": "ENST00000472052.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000472052.1"
}
],
"gene_symbol": "ACAT2",
"gene_hgnc_id": 94,
"dbsnp": "rs1780393296",
"frequency_reference_population": 0.0000065711656,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.00000657117,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9379078149795532,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.89,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.225,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": 0,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 8.677,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001303253.1",
"gene_symbol": "ACAT2",
"hgnc_id": 94,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.583A>C",
"hgvs_p": "p.Asn195His"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}