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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: 12-101723803-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=101723803&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 101723803,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020244.3",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Phe341Leu",
"transcript": "NM_020244.3",
"protein_id": "NP_064629.2",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 406,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000229266.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_020244.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Phe341Leu",
"transcript": "ENST00000229266.8",
"protein_id": "ENSP00000229266.3",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 406,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_020244.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000229266.8"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*391T>C",
"hgvs_p": null,
"transcript": "ENST00000552215.5",
"protein_id": "ENSP00000448831.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000552215.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*391T>C",
"hgvs_p": null,
"transcript": "ENST00000552215.5",
"protein_id": "ENSP00000448831.1",
"transcript_support_level": 1,
"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": "nonsense_mediated_decay",
"feature": "ENST00000552215.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.1120T>C",
"hgvs_p": "p.Phe374Leu",
"transcript": "ENST00000868508.1",
"protein_id": "ENSP00000538567.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 439,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1320,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868508.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.1018T>C",
"hgvs_p": "p.Phe340Leu",
"transcript": "ENST00000931424.1",
"protein_id": "ENSP00000601483.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 405,
"cds_start": 1018,
"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": "ENST00000931424.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Phe341Leu",
"transcript": "ENST00000549872.5",
"protein_id": "ENSP00000448766.1",
"transcript_support_level": 5,
"aa_start": 341,
"aa_end": null,
"aa_length": 398,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1197,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549872.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.961T>C",
"hgvs_p": "p.Phe321Leu",
"transcript": "ENST00000868505.1",
"protein_id": "ENSP00000538564.1",
"transcript_support_level": null,
"aa_start": 321,
"aa_end": null,
"aa_length": 386,
"cds_start": 961,
"cds_end": null,
"cds_length": 1161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868505.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.916T>C",
"hgvs_p": "p.Phe306Leu",
"transcript": "ENST00000868504.1",
"protein_id": "ENSP00000538563.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 371,
"cds_start": 916,
"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": "ENST00000868504.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Phe341Leu",
"transcript": "ENST00000868506.1",
"protein_id": "ENSP00000538565.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 369,
"cds_start": 1021,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868506.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.907T>C",
"hgvs_p": "p.Phe303Leu",
"transcript": "ENST00000868507.1",
"protein_id": "ENSP00000538566.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 368,
"cds_start": 907,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868507.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.889T>C",
"hgvs_p": "p.Phe297Leu",
"transcript": "ENST00000868503.1",
"protein_id": "ENSP00000538562.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 362,
"cds_start": 889,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868503.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.877T>C",
"hgvs_p": "p.Phe293Leu",
"transcript": "ENST00000868510.1",
"protein_id": "ENSP00000538569.1",
"transcript_support_level": null,
"aa_start": 293,
"aa_end": null,
"aa_length": 358,
"cds_start": 877,
"cds_end": null,
"cds_length": 1077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868510.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.514T>C",
"hgvs_p": "p.Phe172Leu",
"transcript": "ENST00000868502.1",
"protein_id": "ENSP00000538561.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 237,
"cds_start": 514,
"cds_end": null,
"cds_length": 714,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868502.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.889T>C",
"hgvs_p": "p.Phe297Leu",
"transcript": "XM_011538574.2",
"protein_id": "XP_011536876.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 362,
"cds_start": 889,
"cds_end": null,
"cds_length": 1089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538574.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.505T>C",
"hgvs_p": "p.Phe169Leu",
"transcript": "XM_011538575.2",
"protein_id": "XP_011536877.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 234,
"cds_start": 505,
"cds_end": null,
"cds_length": 705,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538575.2"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "c.781-2491T>C",
"hgvs_p": null,
"transcript": "ENST00000868509.1",
"protein_id": "ENSP00000538568.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 311,
"cds_start": null,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000868509.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.1021T>C",
"hgvs_p": null,
"transcript": "ENST00000549128.5",
"protein_id": "ENSP00000446994.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000549128.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*391T>C",
"hgvs_p": null,
"transcript": "ENST00000552351.5",
"protein_id": "ENSP00000447887.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552351.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.1111T>C",
"hgvs_p": null,
"transcript": "XR_001748818.2",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_001748818.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.1243T>C",
"hgvs_p": null,
"transcript": "XR_245946.3",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_245946.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"hgvs_c": "n.*391T>C",
"hgvs_p": null,
"transcript": "ENST00000552351.5",
"protein_id": "ENSP00000447887.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000552351.5"
}
],
"gene_symbol": "CHPT1",
"gene_hgnc_id": 17852,
"dbsnp": "rs79716906",
"frequency_reference_population": 0.0026604214,
"hom_count_reference_population": 77,
"allele_count_reference_population": 4110,
"gnomad_exomes_af": 0.00260389,
"gnomad_genomes_af": 0.00317715,
"gnomad_exomes_ac": 3626,
"gnomad_genomes_ac": 484,
"gnomad_exomes_homalt": 70,
"gnomad_genomes_homalt": 7,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.008994996547698975,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.449,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9187,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.935,
"phylop100way_prediction": "Uncertain_significance",
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_020244.3",
"gene_symbol": "CHPT1",
"hgnc_id": 17852,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1021T>C",
"hgvs_p": "p.Phe341Leu"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}