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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: 10-97882797-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=97882797&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 97882797,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_018058.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1664G>T",
"hgvs_p": "p.Gly555Val",
"transcript": "NM_018058.7",
"protein_id": "NP_060528.3",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 661,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370597.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018058.7"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1664G>T",
"hgvs_p": "p.Gly555Val",
"transcript": "ENST00000370597.8",
"protein_id": "ENSP00000359629.3",
"transcript_support_level": 1,
"aa_start": 555,
"aa_end": null,
"aa_length": 661,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1986,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018058.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370597.8"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1640G>T",
"hgvs_p": "p.Gly547Val",
"transcript": "ENST00000309155.4",
"protein_id": "ENSP00000310810.3",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 637,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1914,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000309155.4"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1709G>T",
"hgvs_p": "p.Gly570Val",
"transcript": "ENST00000856696.1",
"protein_id": "ENSP00000526755.1",
"transcript_support_level": null,
"aa_start": 570,
"aa_end": null,
"aa_length": 676,
"cds_start": 1709,
"cds_end": null,
"cds_length": 2031,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856696.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1664G>T",
"hgvs_p": "p.Gly555Val",
"transcript": "ENST00000856695.1",
"protein_id": "ENSP00000526754.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 667,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856695.1"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1664G>T",
"hgvs_p": "p.Gly555Val",
"transcript": "NM_001206528.3",
"protein_id": "NP_001193457.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 645,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206528.3"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1664G>T",
"hgvs_p": "p.Gly555Val",
"transcript": "ENST00000370591.6",
"protein_id": "ENSP00000359623.2",
"transcript_support_level": 5,
"aa_start": 555,
"aa_end": null,
"aa_length": 645,
"cds_start": 1664,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370591.6"
},
{
"aa_ref": "G",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1370G>T",
"hgvs_p": "p.Gly457Val",
"transcript": "ENST00000962752.1",
"protein_id": "ENSP00000632811.1",
"transcript_support_level": null,
"aa_start": 457,
"aa_end": null,
"aa_length": 563,
"cds_start": 1370,
"cds_end": null,
"cds_length": 1692,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000962752.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.1320+1409G>T",
"hgvs_p": null,
"transcript": "ENST00000413387.5",
"protein_id": "ENSP00000408445.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 524,
"cds_start": null,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000413387.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "c.36+1409G>T",
"hgvs_p": null,
"transcript": "ENST00000436034.1",
"protein_id": "ENSP00000404549.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 78,
"cds_start": null,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000436034.1"
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"hgvs_c": "n.375G>T",
"hgvs_p": null,
"transcript": "ENST00000468549.1",
"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": "ENST00000468549.1"
}
],
"gene_symbol": "CRTAC1",
"gene_hgnc_id": 14882,
"dbsnp": "rs1390128854",
"frequency_reference_population": 0.0000027362476,
"hom_count_reference_population": 0,
"allele_count_reference_population": 4,
"gnomad_exomes_af": 0.00000273625,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8068551421165466,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.722,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.2247,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.33,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.076,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018058.7",
"gene_symbol": "CRTAC1",
"hgnc_id": 14882,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1664G>T",
"hgvs_p": "p.Gly555Val"
}
],
"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
}