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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: 6-30654817-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=30654817&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 30654817,
"ref": "C",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_003587.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2886G>T",
"hgvs_p": "p.Val962Val",
"transcript": "NM_003587.5",
"protein_id": "NP_003578.2",
"transcript_support_level": null,
"aa_start": 962,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2886,
"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": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2886G>T",
"hgvs_p": "p.Val962Val",
"transcript": "ENST00000376442.8",
"protein_id": "ENSP00000365625.3",
"transcript_support_level": 1,
"aa_start": 962,
"aa_end": null,
"aa_length": 1041,
"cds_start": 2886,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1443G>T",
"hgvs_p": "p.Val481Val",
"transcript": "ENST00000376437.9",
"protein_id": "ENSP00000365620.5",
"transcript_support_level": 1,
"aa_start": 481,
"aa_end": null,
"aa_length": 560,
"cds_start": 1443,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2907G>T",
"hgvs_p": "p.Val969Val",
"transcript": "ENST00000934642.1",
"protein_id": "ENSP00000604701.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 1048,
"cds_start": 2907,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2898G>T",
"hgvs_p": "p.Val966Val",
"transcript": "ENST00000871055.1",
"protein_id": "ENSP00000541114.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 1045,
"cds_start": 2898,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2883G>T",
"hgvs_p": "p.Val961Val",
"transcript": "ENST00000968599.1",
"protein_id": "ENSP00000638658.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2883,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2883G>T",
"hgvs_p": "p.Val961Val",
"transcript": "ENST00000968600.1",
"protein_id": "ENSP00000638659.1",
"transcript_support_level": null,
"aa_start": 961,
"aa_end": null,
"aa_length": 1040,
"cds_start": 2883,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2877G>T",
"hgvs_p": "p.Val959Val",
"transcript": "ENST00000934641.1",
"protein_id": "ENSP00000604700.1",
"transcript_support_level": null,
"aa_start": 959,
"aa_end": null,
"aa_length": 1038,
"cds_start": 2877,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2805G>T",
"hgvs_p": "p.Val935Val",
"transcript": "ENST00000871056.1",
"protein_id": "ENSP00000541115.1",
"transcript_support_level": null,
"aa_start": 935,
"aa_end": null,
"aa_length": 1014,
"cds_start": 2805,
"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"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2745G>T",
"hgvs_p": "p.Val915Val",
"transcript": "ENST00000968601.1",
"protein_id": "ENSP00000638660.1",
"transcript_support_level": null,
"aa_start": 915,
"aa_end": null,
"aa_length": 994,
"cds_start": 2745,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.2706G>T",
"hgvs_p": "p.Val902Val",
"transcript": "NM_001164239.2",
"protein_id": "NP_001157711.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 981,
"cds_start": 2706,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1443G>T",
"hgvs_p": "p.Val481Val",
"transcript": "NM_001363515.2",
"protein_id": "NP_001350444.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 560,
"cds_start": 1443,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1989G>T",
"hgvs_p": "p.Val663Val",
"transcript": "XM_011514938.3",
"protein_id": "XP_011513240.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 742,
"cds_start": 1989,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1989G>T",
"hgvs_p": "p.Val663Val",
"transcript": "XM_011514939.3",
"protein_id": "XP_011513241.1",
"transcript_support_level": null,
"aa_start": 663,
"aa_end": null,
"aa_length": 742,
"cds_start": 1989,
"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": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"hgvs_c": "c.1335G>T",
"hgvs_p": "p.Val445Val",
"transcript": "XM_011514941.4",
"protein_id": "XP_011513243.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 524,
"cds_start": 1335,
"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"
}
],
"gene_symbol": "DHX16",
"gene_hgnc_id": 2739,
"dbsnp": "rs146265602",
"frequency_reference_population": 0.000085559215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 138,
"gnomad_exomes_af": 0.0000910514,
"gnomad_genomes_af": 0.0000328506,
"gnomad_exomes_ac": 133,
"gnomad_genomes_ac": 5,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.679,
"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": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP7,BS1,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP7",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_003587.5",
"gene_symbol": "DHX16",
"hgnc_id": 2739,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.2886G>T",
"hgvs_p": "p.Val962Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}