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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: 2-86790433-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=86790433&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 86790433,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001768.7",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "NM_001768.7",
"protein_id": "NP_001759.3",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 235,
"cds_start": 298,
"cds_end": null,
"cds_length": 708,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": "ENST00000283635.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001768.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "ENST00000283635.8",
"protein_id": "ENSP00000283635.3",
"transcript_support_level": 1,
"aa_start": 100,
"aa_end": null,
"aa_length": 235,
"cds_start": 298,
"cds_end": null,
"cds_length": 708,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 2106,
"mane_select": "NM_001768.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000283635.8"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "NM_001145873.1",
"protein_id": "NP_001139345.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 235,
"cds_start": 298,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3054,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001145873.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "NM_001382698.1",
"protein_id": "NP_001369627.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 235,
"cds_start": 298,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 3031,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001382698.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "ENST00000409511.6",
"protein_id": "ENSP00000386559.2",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 235,
"cds_start": 298,
"cds_end": null,
"cds_length": 708,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 3048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409511.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "NM_171827.4",
"protein_id": "NP_741969.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 198,
"cds_start": 298,
"cds_end": null,
"cds_length": 597,
"cdna_start": 386,
"cdna_end": null,
"cdna_length": 1995,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_171827.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "ENST00000352580.7",
"protein_id": "ENSP00000321631.3",
"transcript_support_level": 2,
"aa_start": 100,
"aa_end": null,
"aa_length": 198,
"cds_start": 298,
"cds_end": null,
"cds_length": 597,
"cdna_start": 368,
"cdna_end": null,
"cdna_length": 1977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000352580.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "ENST00000409781.1",
"protein_id": "ENSP00000387314.1",
"transcript_support_level": 5,
"aa_start": 100,
"aa_end": null,
"aa_length": 198,
"cds_start": 298,
"cds_end": null,
"cds_length": 597,
"cdna_start": 298,
"cdna_end": null,
"cdna_length": 597,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409781.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe",
"transcript": "ENST00000699439.1",
"protein_id": "ENSP00000514390.1",
"transcript_support_level": null,
"aa_start": 100,
"aa_end": null,
"aa_length": 198,
"cds_start": 298,
"cds_end": null,
"cds_length": 597,
"cdna_start": 860,
"cdna_end": null,
"cdna_length": 2447,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699439.1"
},
{
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "n.777C>T",
"hgvs_p": null,
"transcript": "ENST00000699436.1",
"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": 2485,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000699436.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "n.739C>T",
"hgvs_p": null,
"transcript": "NR_027353.2",
"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": 2459,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_027353.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "n.1882C>T",
"hgvs_p": null,
"transcript": "NR_168478.1",
"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": 3602,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168478.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "n.1728C>T",
"hgvs_p": null,
"transcript": "NR_168480.1",
"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": 3337,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168480.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "n.343-1873C>T",
"hgvs_p": null,
"transcript": "ENST00000699437.1",
"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": 1723,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000699437.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "n.744-4462C>T",
"hgvs_p": null,
"transcript": "NR_168479.1",
"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": 2105,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168479.1"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"hgvs_c": "n.744-1873C>T",
"hgvs_p": null,
"transcript": "NR_168481.1",
"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": 2136,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_168481.1"
}
],
"gene_symbol": "CD8A",
"gene_hgnc_id": 1706,
"dbsnp": "rs79392961",
"frequency_reference_population": 0.0022451612,
"hom_count_reference_population": 76,
"allele_count_reference_population": 3624,
"gnomad_exomes_af": 0.00129155,
"gnomad_genomes_af": 0.0113966,
"gnomad_exomes_ac": 1888,
"gnomad_genomes_ac": 1736,
"gnomad_exomes_homalt": 38,
"gnomad_genomes_homalt": 38,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.009144365787506104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.582,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.5055,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.729,
"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_001768.7",
"gene_symbol": "CD8A",
"hgnc_id": 1706,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.298C>T",
"hgvs_p": "p.Leu100Phe"
}
],
"clinvar_disease": "Susceptibility to respiratory infections associated with CD8alpha chain mutation,not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"phenotype_combined": "Susceptibility to respiratory infections associated with CD8alpha chain mutation|not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}