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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: 6-30655482-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30655482&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30655482,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_003587.5",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2614T>C",
"hgvs_p": "p.Phe872Leu",
"transcript": "NM_003587.5",
"protein_id": "NP_003578.2",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000376442.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003587.5"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2614T>C",
"hgvs_p": "p.Phe872Leu",
"transcript": "ENST00000376442.8",
"protein_id": "ENSP00000365625.3",
"transcript_support_level": 1,
"aa_start": 872,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003587.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000376442.8"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1171T>C",
"hgvs_p": "p.Phe391Leu",
"transcript": "ENST00000376437.9",
"protein_id": "ENSP00000365620.5",
"transcript_support_level": 1,
"aa_start": 391,
"aa_end": null,
"aa_length": 560,
"cds_start": 1171,
"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": "ENST00000376437.9"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2635T>C",
"hgvs_p": "p.Phe879Leu",
"transcript": "ENST00000934642.1",
"protein_id": "ENSP00000604701.1",
"transcript_support_level": null,
"aa_start": 879,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2635,
"cds_end": null,
"cds_length": 3147,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934642.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2626T>C",
"hgvs_p": "p.Phe876Leu",
"transcript": "ENST00000871055.1",
"protein_id": "ENSP00000541114.1",
"transcript_support_level": null,
"aa_start": 876,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2626,
"cds_end": null,
"cds_length": 3138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871055.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2611T>C",
"hgvs_p": "p.Phe871Leu",
"transcript": "ENST00000968599.1",
"protein_id": "ENSP00000638658.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2611,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968599.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2611T>C",
"hgvs_p": "p.Phe871Leu",
"transcript": "ENST00000968600.1",
"protein_id": "ENSP00000638659.1",
"transcript_support_level": null,
"aa_start": 871,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2611,
"cds_end": null,
"cds_length": 3123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968600.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2614T>C",
"hgvs_p": "p.Phe872Leu",
"transcript": "ENST00000934641.1",
"protein_id": "ENSP00000604700.1",
"transcript_support_level": null,
"aa_start": 872,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2614,
"cds_end": null,
"cds_length": 3117,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934641.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2473T>C",
"hgvs_p": "p.Phe825Leu",
"transcript": "ENST00000968601.1",
"protein_id": "ENSP00000638660.1",
"transcript_support_level": null,
"aa_start": 825,
"aa_end": null,
"aa_length": 994,
"cds_start": 2473,
"cds_end": null,
"cds_length": 2985,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968601.1"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2434T>C",
"hgvs_p": "p.Phe812Leu",
"transcript": "NM_001164239.2",
"protein_id": "NP_001157711.1",
"transcript_support_level": null,
"aa_start": 812,
"aa_end": null,
"aa_length": 981,
"cds_start": 2434,
"cds_end": null,
"cds_length": 2946,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001164239.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1171T>C",
"hgvs_p": "p.Phe391Leu",
"transcript": "NM_001363515.2",
"protein_id": "NP_001350444.1",
"transcript_support_level": null,
"aa_start": 391,
"aa_end": null,
"aa_length": 560,
"cds_start": 1171,
"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": "NM_001363515.2"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1717T>C",
"hgvs_p": "p.Phe573Leu",
"transcript": "XM_011514938.3",
"protein_id": "XP_011513240.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 742,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514938.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1717T>C",
"hgvs_p": "p.Phe573Leu",
"transcript": "XM_011514939.3",
"protein_id": "XP_011513241.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 742,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514939.3"
},
{
"aa_ref": "F",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1063T>C",
"hgvs_p": "p.Phe355Leu",
"transcript": "XM_011514941.4",
"protein_id": "XP_011513243.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 524,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1575,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514941.4"
},
{
"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": 20,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2580+34T>C",
"hgvs_p": null,
"transcript": "ENST00000871056.1",
"protein_id": "ENSP00000541115.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1014,
"cds_start": null,
"cds_end": null,
"cds_length": 3045,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871056.1"
}
],
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"dbsnp": "rs752032921",
"frequency_reference_population": 0.000001368886,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136889,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11481112241744995,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.081,
"revel_prediction": "Benign",
"alphamissense_score": 0.7982,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.51,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.926,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_003587.5",
"gene_symbol": "DHX16",
"hgnc_id": 2739,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2614T>C",
"hgvs_p": "p.Phe872Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}