← 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: 6-47595872-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=47595872&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 47595872,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_012120.3",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "NM_012120.3",
"protein_id": "NP_036252.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 639,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000359314.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012120.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000359314.5",
"protein_id": "ENSP00000352264.5",
"transcript_support_level": 1,
"aa_start": 374,
"aa_end": null,
"aa_length": 639,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1920,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012120.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000359314.5"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1123A>G",
"hgvs_p": "p.Thr375Ala",
"transcript": "ENST00000865253.1",
"protein_id": "ENSP00000535312.1",
"transcript_support_level": null,
"aa_start": 375,
"aa_end": null,
"aa_length": 640,
"cds_start": 1123,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865253.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1111A>G",
"hgvs_p": "p.Thr371Ala",
"transcript": "ENST00000931707.1",
"protein_id": "ENSP00000601766.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 636,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931707.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1111A>G",
"hgvs_p": "p.Thr371Ala",
"transcript": "ENST00000931708.1",
"protein_id": "ENSP00000601767.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 636,
"cds_start": 1111,
"cds_end": null,
"cds_length": 1911,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931708.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1108A>G",
"hgvs_p": "p.Thr370Ala",
"transcript": "ENST00000865252.1",
"protein_id": "ENSP00000535311.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 635,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865252.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "ENST00000931709.1",
"protein_id": "ENSP00000601768.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 631,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931709.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1057A>G",
"hgvs_p": "p.Thr353Ala",
"transcript": "ENST00000960842.1",
"protein_id": "ENSP00000630901.1",
"transcript_support_level": null,
"aa_start": 353,
"aa_end": null,
"aa_length": 618,
"cds_start": 1057,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960842.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Thr195Ala",
"transcript": "ENST00000865254.1",
"protein_id": "ENSP00000535313.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 460,
"cds_start": 583,
"cds_end": null,
"cds_length": 1383,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000865254.1"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1108A>G",
"hgvs_p": "p.Thr370Ala",
"transcript": "XM_005248976.2",
"protein_id": "XP_005249033.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 635,
"cds_start": 1108,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005248976.2"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.973A>G",
"hgvs_p": "p.Thr325Ala",
"transcript": "XM_011514449.3",
"protein_id": "XP_011512751.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 590,
"cds_start": 973,
"cds_end": null,
"cds_length": 1773,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514449.3"
},
{
"aa_ref": "T",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala",
"transcript": "XM_017010641.2",
"protein_id": "XP_016866130.1",
"transcript_support_level": null,
"aa_start": 374,
"aa_end": null,
"aa_length": 476,
"cds_start": 1120,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017010641.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"hgvs_c": "c.421-28314A>G",
"hgvs_p": null,
"transcript": "ENST00000960843.1",
"protein_id": "ENSP00000630902.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 153,
"cds_start": null,
"cds_end": null,
"cds_length": 462,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960843.1"
}
],
"gene_symbol": "CD2AP",
"gene_hgnc_id": 14258,
"dbsnp": "rs138727736",
"frequency_reference_population": 0.0054875864,
"hom_count_reference_population": 48,
"allele_count_reference_population": 8846,
"gnomad_exomes_af": 0.0056788,
"gnomad_genomes_af": 0.00365342,
"gnomad_exomes_ac": 8290,
"gnomad_genomes_ac": 556,
"gnomad_exomes_homalt": 47,
"gnomad_genomes_homalt": 1,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0028515756130218506,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.064,
"revel_prediction": "Benign",
"alphamissense_score": 0.0589,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.81,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.211,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_012120.3",
"gene_symbol": "CD2AP",
"hgnc_id": 14258,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1120A>G",
"hgvs_p": "p.Thr374Ala"
}
],
"clinvar_disease": " susceptibility to,Focal segmental glomerulosclerosis,Focal segmental glomerulosclerosis 3,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3 B:4",
"phenotype_combined": "Focal segmental glomerulosclerosis 3, susceptibility to|not specified|Focal segmental glomerulosclerosis|not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}