← Back to variant description
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: 22-39134031-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=39134031&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 39134031,
"ref": "C",
"alt": "A",
"effect": "stop_gained",
"transcript": "NM_175709.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.616G>T",
"hgvs_p": "p.Glu206*",
"transcript": "NM_175709.5",
"protein_id": "NP_783640.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 251,
"cds_start": 616,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000216133.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_175709.5"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.616G>T",
"hgvs_p": "p.Glu206*",
"transcript": "ENST00000216133.10",
"protein_id": "ENSP00000216133.5",
"transcript_support_level": 1,
"aa_start": 206,
"aa_end": null,
"aa_length": 251,
"cds_start": 616,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_175709.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000216133.10"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Glu113*",
"transcript": "ENST00000401405.7",
"protein_id": "ENSP00000384035.3",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 158,
"cds_start": 337,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000401405.7"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.694G>T",
"hgvs_p": "p.Glu232*",
"transcript": "ENST00000858784.1",
"protein_id": "ENSP00000528843.1",
"transcript_support_level": null,
"aa_start": 232,
"aa_end": null,
"aa_length": 277,
"cds_start": 694,
"cds_end": null,
"cds_length": 834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858784.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.640G>T",
"hgvs_p": "p.Glu214*",
"transcript": "ENST00000858777.1",
"protein_id": "ENSP00000528836.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 259,
"cds_start": 640,
"cds_end": null,
"cds_length": 780,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858777.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.637G>T",
"hgvs_p": "p.Glu213*",
"transcript": "ENST00000858781.1",
"protein_id": "ENSP00000528840.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 258,
"cds_start": 637,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858781.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.613G>T",
"hgvs_p": "p.Glu205*",
"transcript": "NM_001346743.2",
"protein_id": "NP_001333672.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 250,
"cds_start": 613,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346743.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.613G>T",
"hgvs_p": "p.Glu205*",
"transcript": "ENST00000858776.1",
"protein_id": "ENSP00000528835.1",
"transcript_support_level": null,
"aa_start": 205,
"aa_end": null,
"aa_length": 250,
"cds_start": 613,
"cds_end": null,
"cds_length": 753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858776.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.463G>T",
"hgvs_p": "p.Glu155*",
"transcript": "ENST00000944730.1",
"protein_id": "ENSP00000614789.1",
"transcript_support_level": null,
"aa_start": 155,
"aa_end": null,
"aa_length": 200,
"cds_start": 463,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944730.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.460G>T",
"hgvs_p": "p.Glu154*",
"transcript": "ENST00000858782.1",
"protein_id": "ENSP00000528841.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 199,
"cds_start": 460,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858782.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.439G>T",
"hgvs_p": "p.Glu147*",
"transcript": "ENST00000858778.1",
"protein_id": "ENSP00000528837.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 192,
"cds_start": 439,
"cds_end": null,
"cds_length": 579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858778.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.436G>T",
"hgvs_p": "p.Glu146*",
"transcript": "ENST00000858780.1",
"protein_id": "ENSP00000528839.1",
"transcript_support_level": null,
"aa_start": 146,
"aa_end": null,
"aa_length": 191,
"cds_start": 436,
"cds_end": null,
"cds_length": 576,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858780.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.397G>T",
"hgvs_p": "p.Glu133*",
"transcript": "ENST00000944729.1",
"protein_id": "ENSP00000614788.1",
"transcript_support_level": null,
"aa_start": 133,
"aa_end": null,
"aa_length": 178,
"cds_start": 397,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944729.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.361G>T",
"hgvs_p": "p.Glu121*",
"transcript": "ENST00000944731.1",
"protein_id": "ENSP00000614790.1",
"transcript_support_level": null,
"aa_start": 121,
"aa_end": null,
"aa_length": 166,
"cds_start": 361,
"cds_end": null,
"cds_length": 501,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944731.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.358G>T",
"hgvs_p": "p.Glu120*",
"transcript": "ENST00000858783.1",
"protein_id": "ENSP00000528842.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 165,
"cds_start": 358,
"cds_end": null,
"cds_length": 498,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858783.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.337G>T",
"hgvs_p": "p.Glu113*",
"transcript": "NM_001346744.2",
"protein_id": "NP_001333673.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 158,
"cds_start": 337,
"cds_end": null,
"cds_length": 477,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001346744.2"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.334G>T",
"hgvs_p": "p.Glu112*",
"transcript": "ENST00000858779.1",
"protein_id": "ENSP00000528838.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 157,
"cds_start": 334,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000858779.1"
},
{
"aa_ref": "E",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "c.271G>T",
"hgvs_p": "p.Glu91*",
"transcript": "ENST00000944728.1",
"protein_id": "ENSP00000614787.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 136,
"cds_start": 271,
"cds_end": null,
"cds_length": 411,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944728.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "n.394G>T",
"hgvs_p": null,
"transcript": "ENST00000490741.1",
"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": "retained_intron",
"feature": "ENST00000490741.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000279833",
"gene_hgnc_id": 58395,
"hgvs_c": "n.942C>A",
"hgvs_p": null,
"transcript": "ENST00000624656.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000624656.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"hgvs_c": "n.45-13458G>T",
"hgvs_p": null,
"transcript": "ENST00000475962.5",
"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": "ENST00000475962.5"
}
],
"gene_symbol": "CBX7",
"gene_hgnc_id": 1557,
"dbsnp": "rs758040396",
"frequency_reference_population": 6.890887e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.89089e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.3799999952316284,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 1.289,
"phylop100way_prediction": "Benign",
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_175709.5",
"gene_symbol": "CBX7",
"hgnc_id": 1557,
"effects": [
"stop_gained"
],
"inheritance_mode": "AD",
"hgvs_c": "c.616G>T",
"hgvs_p": "p.Glu206*"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000624656.1",
"gene_symbol": "ENSG00000279833",
"hgnc_id": 58395,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.942C>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}