← 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: 3-47846757-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=47846757&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 47846757,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000445061.6",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.His562Arg",
"transcript": "NM_138615.3",
"protein_id": "NP_619520.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1685,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": "ENST00000445061.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.His562Arg",
"transcript": "ENST00000445061.6",
"protein_id": "ENSP00000405620.1",
"transcript_support_level": 1,
"aa_start": 562,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1685,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1882,
"cdna_end": null,
"cdna_length": 3855,
"mane_select": "NM_138615.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "n.*1585A>G",
"hgvs_p": null,
"transcript": "ENST00000395745.6",
"protein_id": "ENSP00000379094.2",
"transcript_support_level": 1,
"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": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "n.*1585A>G",
"hgvs_p": null,
"transcript": "ENST00000395745.6",
"protein_id": "ENSP00000379094.2",
"transcript_support_level": 1,
"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": 3887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1769A>G",
"hgvs_p": "p.His590Arg",
"transcript": "ENST00000457607.1",
"protein_id": "ENSP00000394682.1",
"transcript_support_level": 5,
"aa_start": 590,
"aa_end": null,
"aa_length": 1222,
"cds_start": 1769,
"cds_end": null,
"cds_length": 3669,
"cdna_start": 1781,
"cdna_end": null,
"cdna_length": 3748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.His562Arg",
"transcript": "ENST00000446256.6",
"protein_id": "ENSP00000392601.3",
"transcript_support_level": 2,
"aa_start": 562,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1685,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 1685,
"cdna_end": null,
"cdna_length": 3660,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.His534Arg",
"transcript": "NM_001330990.2",
"protein_id": "NP_001317919.1",
"transcript_support_level": null,
"aa_start": 534,
"aa_end": null,
"aa_length": 1166,
"cds_start": 1601,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 2048,
"cdna_end": null,
"cdna_length": 4021,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1601A>G",
"hgvs_p": "p.His534Arg",
"transcript": "ENST00000348968.8",
"protein_id": "ENSP00000343442.4",
"transcript_support_level": 5,
"aa_start": 534,
"aa_end": null,
"aa_length": 1166,
"cds_start": 1601,
"cds_end": null,
"cds_length": 3501,
"cdna_start": 2021,
"cdna_end": null,
"cdna_length": 3994,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1568A>G",
"hgvs_p": "p.His523Arg",
"transcript": "NM_014966.4",
"protein_id": "NP_055781.2",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 1155,
"cds_start": 1568,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 1911,
"cdna_end": null,
"cdna_length": 3884,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1568A>G",
"hgvs_p": "p.His523Arg",
"transcript": "ENST00000619982.4",
"protein_id": "ENSP00000483160.1",
"transcript_support_level": 5,
"aa_start": 523,
"aa_end": null,
"aa_length": 1155,
"cds_start": 1568,
"cds_end": null,
"cds_length": 3468,
"cdna_start": 1599,
"cdna_end": null,
"cdna_length": 3574,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.His633Arg",
"transcript": "XM_047447727.1",
"protein_id": "XP_047303683.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2139,
"cdna_end": null,
"cdna_length": 4112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.His633Arg",
"transcript": "XM_047447728.1",
"protein_id": "XP_047303684.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2274,
"cdna_end": null,
"cdna_length": 4247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1898A>G",
"hgvs_p": "p.His633Arg",
"transcript": "XM_047447729.1",
"protein_id": "XP_047303685.1",
"transcript_support_level": null,
"aa_start": 633,
"aa_end": null,
"aa_length": 1265,
"cds_start": 1898,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 2110,
"cdna_end": null,
"cdna_length": 4083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1787A>G",
"hgvs_p": "p.His596Arg",
"transcript": "XM_024453405.2",
"protein_id": "XP_024309173.1",
"transcript_support_level": null,
"aa_start": 596,
"aa_end": null,
"aa_length": 1228,
"cds_start": 1787,
"cds_end": null,
"cds_length": 3687,
"cdna_start": 2028,
"cdna_end": null,
"cdna_length": 4001,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.His562Arg",
"transcript": "XM_011533494.4",
"protein_id": "XP_011531796.1",
"transcript_support_level": null,
"aa_start": 562,
"aa_end": null,
"aa_length": 1194,
"cds_start": 1685,
"cds_end": null,
"cds_length": 3585,
"cdna_start": 2080,
"cdna_end": null,
"cdna_length": 4053,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"hgvs_c": "c.1589A>G",
"hgvs_p": "p.His530Arg",
"transcript": "XM_006713033.2",
"protein_id": "XP_006713096.1",
"transcript_support_level": null,
"aa_start": 530,
"aa_end": null,
"aa_length": 1162,
"cds_start": 1589,
"cds_end": null,
"cds_length": 3489,
"cdna_start": 1786,
"cdna_end": null,
"cdna_length": 3759,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "DHX30",
"gene_hgnc_id": 16716,
"dbsnp": "rs1060499733",
"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": 0.9840368032455444,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.783,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9928,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.099,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.07,
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000445061.6",
"gene_symbol": "DHX30",
"hgnc_id": 16716,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1685A>G",
"hgvs_p": "p.His562Arg"
}
],
"clinvar_disease": "7 conditions,Abnormal cerebral white matter morphology,Autism,Intellectual disability,Neurodevelopmental disorder with severe motor impairment and absent language",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "7 conditions|Neurodevelopmental disorder with severe motor impairment and absent language|Abnormal cerebral white matter morphology;Autism;Intellectual disability",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}