← 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: 2-43253178-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=43253178&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 43253178,
"ref": "G",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_022065.5",
"consequences": [
{
"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": 38,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5297-20296C>T",
"hgvs_p": null,
"transcript": "NM_022065.5",
"protein_id": "NP_071348.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": -4,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": "ENST00000405975.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5297-20296C>T",
"hgvs_p": null,
"transcript": "ENST00000405975.7",
"protein_id": "ENSP00000386088.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": -4,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6091,
"mane_select": "NM_022065.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5297-20296C>T",
"hgvs_p": null,
"transcript": "ENST00000405006.8",
"protein_id": "ENSP00000385995.4",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": -4,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6310,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5297-20296C>T",
"hgvs_p": null,
"transcript": "NM_001083953.2",
"protein_id": "NP_001077422.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": -4,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 39,
"intron_rank": 37,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5297-20296C>T",
"hgvs_p": null,
"transcript": "NM_001345925.2",
"protein_id": "NP_001332854.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1953,
"cds_start": -4,
"cds_end": null,
"cds_length": 5862,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6138,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5294-20296C>T",
"hgvs_p": null,
"transcript": "NM_001345923.2",
"protein_id": "NP_001332852.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1952,
"cds_start": -4,
"cds_end": null,
"cds_length": 5859,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 38,
"intron_rank": 36,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.5174-20296C>T",
"hgvs_p": null,
"transcript": "NM_001345924.2",
"protein_id": "NP_001332853.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1912,
"cds_start": -4,
"cds_end": null,
"cds_length": 5739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 23,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "c.3014-20296C>T",
"hgvs_p": null,
"transcript": "ENST00000407351.5",
"protein_id": "ENSP00000386112.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 1192,
"cds_start": -4,
"cds_end": null,
"cds_length": 3579,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3678,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "n.*4213-20296C>T",
"hgvs_p": null,
"transcript": "ENST00000398653.5",
"protein_id": "ENSP00000381647.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "n.76-20296C>T",
"hgvs_p": null,
"transcript": "ENST00000467668.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 36,
"intron_rank": 34,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "n.5239-20296C>T",
"hgvs_p": null,
"transcript": "NR_073394.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 37,
"intron_rank": 35,
"intron_rank_end": null,
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"hgvs_c": "n.5313-20296C>T",
"hgvs_p": null,
"transcript": "NR_144316.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5975,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "THADA",
"gene_hgnc_id": 19217,
"dbsnp": "rs7595299",
"frequency_reference_population": 0.14942808,
"hom_count_reference_population": 1778,
"allele_count_reference_population": 22731,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.149428,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 22731,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 1778,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.9100000262260437,
"computational_prediction_selected": "Benign",
"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": -0.91,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.002,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_022065.5",
"gene_symbol": "THADA",
"hgnc_id": 19217,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5297-20296C>T",
"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
}