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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: 6-73414048-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=73414048&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 73414048,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_018665.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1575T>G",
"hgvs_p": "p.Asp525Glu",
"transcript": "NM_018665.3",
"protein_id": "NP_061135.2",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 648,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000370336.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018665.3"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1575T>G",
"hgvs_p": "p.Asp525Glu",
"transcript": "ENST00000370336.5",
"protein_id": "ENSP00000359361.4",
"transcript_support_level": 1,
"aa_start": 525,
"aa_end": null,
"aa_length": 648,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_018665.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370336.5"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "CGAS",
"gene_hgnc_id": 21367,
"hgvs_c": "c.1333-27A>C",
"hgvs_p": null,
"transcript": "ENST00000370318.5",
"protein_id": "ENSP00000359342.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 447,
"cds_start": null,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000370318.5"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1575T>G",
"hgvs_p": "p.Asp525Glu",
"transcript": "ENST00000942801.1",
"protein_id": "ENSP00000612860.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 648,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942801.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1443T>G",
"hgvs_p": "p.Asp481Glu",
"transcript": "ENST00000901441.1",
"protein_id": "ENSP00000571500.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 604,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901441.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1575T>G",
"hgvs_p": "p.Asp525Glu",
"transcript": "XM_047418981.1",
"protein_id": "XP_047274937.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 653,
"cds_start": 1575,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418981.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1443T>G",
"hgvs_p": "p.Asp481Glu",
"transcript": "XM_047418982.1",
"protein_id": "XP_047274938.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 609,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418982.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1443T>G",
"hgvs_p": "p.Asp481Glu",
"transcript": "XM_047418983.1",
"protein_id": "XP_047274939.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 604,
"cds_start": 1443,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418983.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1218T>G",
"hgvs_p": "p.Asp406Glu",
"transcript": "XM_047418984.1",
"protein_id": "XP_047274940.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 534,
"cds_start": 1218,
"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": "XM_047418984.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.1218T>G",
"hgvs_p": "p.Asp406Glu",
"transcript": "XM_047418985.1",
"protein_id": "XP_047274941.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 534,
"cds_start": 1218,
"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": "XM_047418985.1"
},
{
"aa_ref": "D",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "c.948T>G",
"hgvs_p": "p.Asp316Glu",
"transcript": "XM_047418986.1",
"protein_id": "XP_047274942.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 444,
"cds_start": 948,
"cds_end": null,
"cds_length": 1335,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418986.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"hgvs_c": "n.*41T>G",
"hgvs_p": null,
"transcript": "ENST00000479773.1",
"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": "ENST00000479773.1"
}
],
"gene_symbol": "DDX43",
"gene_hgnc_id": 18677,
"dbsnp": "rs774238260",
"frequency_reference_population": 0.000001243515,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.86732e-7,
"gnomad_genomes_af": 0.00000657151,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8333387970924377,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.029999999329447746,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.45,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.216,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.28,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.342,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_018665.3",
"gene_symbol": "DDX43",
"hgnc_id": 18677,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1575T>G",
"hgvs_p": "p.Asp525Glu"
},
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000370318.5",
"gene_symbol": "CGAS",
"hgnc_id": 21367,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1333-27A>C",
"hgvs_p": null
}
],
"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
}