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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: 18-69946773-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=69946773&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 69946773,
"ref": "G",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006566.4",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "NM_001303618.2",
"protein_id": "NP_001290547.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000582621.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303618.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000582621.6",
"protein_id": "ENSP00000461947.1",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001303618.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000582621.6"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000280200.8",
"protein_id": "ENSP00000280200.4",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280200.8"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.-84+9982C>A",
"hgvs_p": null,
"transcript": "ENST00000581982.5",
"protein_id": "ENSP00000464084.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000581982.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "NM_006566.4",
"protein_id": "NP_006557.2",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006566.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000851210.1",
"protein_id": "ENSP00000521269.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851210.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000851211.1",
"protein_id": "ENSP00000521270.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851211.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000951224.1",
"protein_id": "ENSP00000621283.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951224.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000579496.5",
"protein_id": "ENSP00000463927.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 275,
"cds_start": 343,
"cds_end": null,
"cds_length": 830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000579496.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000583955.5",
"protein_id": "ENSP00000464334.1",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 131,
"cds_start": 343,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000583955.5"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "ENST00000580335.1",
"protein_id": "ENSP00000463335.1",
"transcript_support_level": 4,
"aa_start": 115,
"aa_end": null,
"aa_length": 126,
"cds_start": 343,
"cds_end": null,
"cds_length": 382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000580335.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "XM_005266642.4",
"protein_id": "XP_005266699.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005266642.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "XM_047437274.1",
"protein_id": "XP_047293230.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437274.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "XM_047437275.1",
"protein_id": "XP_047293231.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 336,
"cds_start": 343,
"cds_end": null,
"cds_length": 1011,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437275.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"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": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys",
"transcript": "XM_047437276.1",
"protein_id": "XP_047293232.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 289,
"cds_start": 343,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047437276.1"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.-84+9982C>A",
"hgvs_p": null,
"transcript": "NM_001303619.2",
"protein_id": "NP_001290548.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001303619.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.-205-3C>A",
"hgvs_p": null,
"transcript": "ENST00000577287.5",
"protein_id": "ENSP00000462453.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000577287.5"
},
{
"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": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"hgvs_c": "c.13+14819C>A",
"hgvs_p": null,
"transcript": "XM_006722374.4",
"protein_id": "XP_006722437.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 213,
"cds_start": null,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006722374.4"
}
],
"gene_symbol": "CD226",
"gene_hgnc_id": 16961,
"dbsnp": "rs763900514",
"frequency_reference_population": 6.840872e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84087e-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": 0.07756975293159485,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07999999821186066,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.107,
"revel_prediction": "Benign",
"alphamissense_score": 0.0868,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.152,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.08,
"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_006566.4",
"gene_symbol": "CD226",
"hgnc_id": 16961,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.343C>A",
"hgvs_p": "p.Gln115Lys"
}
],
"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
}