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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: 12-1955500-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=1955500&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 1955500,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_152640.5",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "NM_152640.5",
"protein_id": "NP_689853.3",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 617,
"cds_start": 583,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280665.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152640.5"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000280665.11",
"protein_id": "ENSP00000280665.6",
"transcript_support_level": 1,
"aa_start": 195,
"aa_end": null,
"aa_length": 617,
"cds_start": 583,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_152640.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280665.11"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000971563.1",
"protein_id": "ENSP00000641622.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 674,
"cds_start": 583,
"cds_end": null,
"cds_length": 2025,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971563.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.664A>G",
"hgvs_p": "p.Asn222Asp",
"transcript": "ENST00000883051.1",
"protein_id": "ENSP00000553110.1",
"transcript_support_level": null,
"aa_start": 222,
"aa_end": null,
"aa_length": 644,
"cds_start": 664,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883051.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.580A>G",
"hgvs_p": "p.Asn194Asp",
"transcript": "ENST00000913952.1",
"protein_id": "ENSP00000584011.1",
"transcript_support_level": null,
"aa_start": 194,
"aa_end": null,
"aa_length": 616,
"cds_start": 580,
"cds_end": null,
"cds_length": 1851,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913952.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000883049.1",
"protein_id": "ENSP00000553108.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 586,
"cds_start": 583,
"cds_end": null,
"cds_length": 1761,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883049.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000883050.1",
"protein_id": "ENSP00000553109.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 560,
"cds_start": 583,
"cds_end": null,
"cds_length": 1683,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883050.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp",
"transcript": "ENST00000971564.1",
"protein_id": "ENSP00000641623.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 534,
"cds_start": 583,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000971564.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"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": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.205A>G",
"hgvs_p": "p.Asn69Asp",
"transcript": "ENST00000540622.1",
"protein_id": "ENSP00000444374.1",
"transcript_support_level": 5,
"aa_start": 69,
"aa_end": null,
"aa_length": 390,
"cds_start": 205,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540622.1"
},
{
"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": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "c.523-2212A>G",
"hgvs_p": null,
"transcript": "ENST00000913950.1",
"protein_id": "ENSP00000584010.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 574,
"cds_start": null,
"cds_end": null,
"cds_length": 1725,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913950.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "n.259A>G",
"hgvs_p": null,
"transcript": "ENST00000536665.5",
"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": "ENST00000536665.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "n.*349A>G",
"hgvs_p": null,
"transcript": "ENST00000543381.5",
"protein_id": "ENSP00000445011.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000543381.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "n.735A>G",
"hgvs_p": null,
"transcript": "NR_135060.2",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_135060.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "n.*349A>G",
"hgvs_p": null,
"transcript": "ENST00000543381.5",
"protein_id": "ENSP00000445011.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000543381.5"
},
{
"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": 3,
"intron_rank_end": null,
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"hgvs_c": "n.437-2212A>G",
"hgvs_p": null,
"transcript": "ENST00000541700.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000541700.5"
}
],
"gene_symbol": "DCP1B",
"gene_hgnc_id": 24451,
"dbsnp": "rs12423058",
"frequency_reference_population": 0.03393228,
"hom_count_reference_population": 1112,
"allele_count_reference_population": 54761,
"gnomad_exomes_af": 0.0347504,
"gnomad_genomes_af": 0.0260808,
"gnomad_exomes_ac": 50789,
"gnomad_genomes_ac": 3972,
"gnomad_exomes_homalt": 1035,
"gnomad_genomes_homalt": 77,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00784340500831604,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.083,
"revel_prediction": "Benign",
"alphamissense_score": 0.2585,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.49,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.047,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.03,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BS1_Supporting,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BS1_Supporting",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_152640.5",
"gene_symbol": "DCP1B",
"hgnc_id": 24451,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.583A>G",
"hgvs_p": "p.Asn195Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}