← 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: 13-49534164-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=13&pos=49534164&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "13",
"pos": 49534164,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000378302.7",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp",
"transcript": "NM_018191.4",
"protein_id": "NP_060661.3",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 531,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "ENST00000378302.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp",
"transcript": "ENST00000378302.7",
"protein_id": "ENSP00000367552.2",
"transcript_support_level": 1,
"aa_start": 518,
"aa_end": null,
"aa_length": 531,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1790,
"cdna_end": null,
"cdna_length": 4008,
"mane_select": "NM_018191.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp",
"transcript": "NM_001352500.2",
"protein_id": "NP_001339429.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 531,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1793,
"cdna_end": null,
"cdna_length": 4011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp",
"transcript": "NM_001352501.2",
"protein_id": "NP_001339430.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 531,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1710,
"cdna_end": null,
"cdna_length": 3928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp",
"transcript": "NM_001352502.2",
"protein_id": "NP_001339431.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 531,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1713,
"cdna_end": null,
"cdna_length": 3931,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp",
"transcript": "NM_001352503.2",
"protein_id": "NP_001339432.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 531,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 4004,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp",
"transcript": "ENST00000258646.3",
"protein_id": "ENSP00000258646.3",
"transcript_support_level": 2,
"aa_start": 518,
"aa_end": null,
"aa_length": 531,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1598,
"cdna_end": null,
"cdna_length": 3816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.975A>T",
"hgvs_p": "p.Glu325Asp",
"transcript": "NM_001352506.2",
"protein_id": "NP_001339435.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 338,
"cds_start": 975,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 1820,
"cdna_end": null,
"cdna_length": 4038,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp",
"transcript": "XM_011535134.2",
"protein_id": "XP_011533436.1",
"transcript_support_level": null,
"aa_start": 518,
"aa_end": null,
"aa_length": 531,
"cds_start": 1554,
"cds_end": null,
"cds_length": 1596,
"cdna_start": 1789,
"cdna_end": null,
"cdna_length": 4007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "c.1167A>T",
"hgvs_p": "p.Glu389Asp",
"transcript": "XM_011535135.3",
"protein_id": "XP_011533437.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 402,
"cds_start": 1167,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 1326,
"cdna_end": null,
"cdna_length": 3544,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "n.442A>T",
"hgvs_p": null,
"transcript": "ENST00000471984.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "n.1948A>T",
"hgvs_p": null,
"transcript": "NR_148015.2",
"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": 4166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"hgvs_c": "n.1904A>T",
"hgvs_p": null,
"transcript": "NR_148016.2",
"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": 4122,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RCBTB1",
"gene_hgnc_id": 18243,
"dbsnp": "rs2139103335",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.03606286644935608,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.146,
"revel_prediction": "Benign",
"alphamissense_score": 0.0874,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.453,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000378302.7",
"gene_symbol": "RCBTB1",
"hgnc_id": 18243,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1554A>T",
"hgvs_p": "p.Glu518Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}