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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: 12-68866971-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=68866971&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 68866971,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001413387.1",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_198320.5",
"protein_id": "NP_938079.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000551568.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198320.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000551568.6",
"protein_id": "ENSP00000448517.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198320.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000551568.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000338356.7",
"protein_id": "ENSP00000339157.3",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338356.7"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000546373.5",
"protein_id": "ENSP00000447255.1",
"transcript_support_level": 1,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546373.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.931C>T",
"hgvs_p": "p.Arg311Cys",
"transcript": "ENST00000894617.1",
"protein_id": "ENSP00000564676.1",
"transcript_support_level": null,
"aa_start": 311,
"aa_end": null,
"aa_length": 465,
"cds_start": 931,
"cds_end": null,
"cds_length": 1398,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894617.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Cys",
"transcript": "NM_001413387.1",
"protein_id": "NP_001400316.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 455,
"cds_start": 901,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413387.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Cys",
"transcript": "ENST00000894616.1",
"protein_id": "ENSP00000564675.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 455,
"cds_start": 901,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894616.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_001005502.3",
"protein_id": "NP_001005502.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001005502.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_001413388.1",
"protein_id": "NP_001400317.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413388.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_001413389.1",
"protein_id": "NP_001400318.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413389.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_001413390.1",
"protein_id": "NP_001400319.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413390.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_001413391.1",
"protein_id": "NP_001400320.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001413391.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "NM_001874.5",
"protein_id": "NP_001865.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001874.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000894614.1",
"protein_id": "ENSP00000564673.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894614.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000894615.1",
"protein_id": "ENSP00000564674.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894615.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000961569.1",
"protein_id": "ENSP00000631628.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961569.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000961570.1",
"protein_id": "ENSP00000631629.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961570.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000961572.1",
"protein_id": "ENSP00000631631.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961572.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000961573.1",
"protein_id": "ENSP00000631632.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961573.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.865C>T",
"hgvs_p": "p.Arg289Cys",
"transcript": "ENST00000961574.1",
"protein_id": "ENSP00000631633.1",
"transcript_support_level": null,
"aa_start": 289,
"aa_end": null,
"aa_length": 443,
"cds_start": 865,
"cds_end": null,
"cds_length": 1332,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961574.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.856C>T",
"hgvs_p": "p.Arg286Cys",
"transcript": "ENST00000961575.1",
"protein_id": "ENSP00000631634.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 440,
"cds_start": 856,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000961575.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"hgvs_c": "c.742C>T",
"hgvs_p": "p.Arg248Cys",
"transcript": "NM_001413392.1",
"protein_id": "NP_001400321.1",
"transcript_support_level": null,
"aa_start": 248,
"aa_end": null,
"aa_length": 402,
"cds_start": 742,
"cds_end": null,
"cds_length": 1209,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"hgvs_c": "n.585C>T",
"hgvs_p": null,
"transcript": "XR_007063051.1",
"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_007063051.1"
}
],
"gene_symbol": "CPM",
"gene_hgnc_id": 2311,
"dbsnp": "rs538250941",
"frequency_reference_population": 0.000013011104,
"hom_count_reference_population": 0,
"allele_count_reference_population": 21,
"gnomad_exomes_af": 0.0000123141,
"gnomad_genomes_af": 0.0000197021,
"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1507980227470398,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.2451,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.47,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.251,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001413387.1",
"gene_symbol": "CPM",
"hgnc_id": 2311,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.901C>T",
"hgvs_p": "p.Arg301Cys"
}
],
"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
}