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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: 2-38802858-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=38802858&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 38802858,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_198963.3",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Val1292Ile",
"transcript": "NM_198963.3",
"protein_id": "NP_945314.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000457308.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198963.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Val1292Ile",
"transcript": "ENST00000457308.6",
"protein_id": "ENSP00000405111.2",
"transcript_support_level": 1,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_198963.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000457308.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "n.*2172G>A",
"hgvs_p": null,
"transcript": "ENST00000620517.4",
"protein_id": "ENSP00000482275.1",
"transcript_support_level": 1,
"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": "ENST00000620517.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "n.4901G>A",
"hgvs_p": null,
"transcript": "ENST00000622155.4",
"protein_id": null,
"transcript_support_level": 1,
"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": "retained_intron",
"feature": "ENST00000622155.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "n.*2172G>A",
"hgvs_p": null,
"transcript": "ENST00000620517.4",
"protein_id": "ENSP00000482275.1",
"transcript_support_level": 1,
"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": "ENST00000620517.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Val1292Ile",
"transcript": "ENST00000896810.1",
"protein_id": "ENSP00000566869.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896810.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3871G>A",
"hgvs_p": "p.Val1291Ile",
"transcript": "ENST00000934862.1",
"protein_id": "ENSP00000604921.1",
"transcript_support_level": null,
"aa_start": 1291,
"aa_end": null,
"aa_length": 1385,
"cds_start": 3871,
"cds_end": null,
"cds_length": 4158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934862.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3865G>A",
"hgvs_p": "p.Val1289Ile",
"transcript": "ENST00000896808.1",
"protein_id": "ENSP00000566867.1",
"transcript_support_level": null,
"aa_start": 1289,
"aa_end": null,
"aa_length": 1383,
"cds_start": 3865,
"cds_end": null,
"cds_length": 4152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896808.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3838G>A",
"hgvs_p": "p.Val1280Ile",
"transcript": "ENST00000896807.1",
"protein_id": "ENSP00000566866.1",
"transcript_support_level": null,
"aa_start": 1280,
"aa_end": null,
"aa_length": 1374,
"cds_start": 3838,
"cds_end": null,
"cds_length": 4125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896807.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3790G>A",
"hgvs_p": "p.Val1264Ile",
"transcript": "ENST00000896809.1",
"protein_id": "ENSP00000566868.1",
"transcript_support_level": null,
"aa_start": 1264,
"aa_end": null,
"aa_length": 1358,
"cds_start": 3790,
"cds_end": null,
"cds_length": 4077,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000896809.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3745G>A",
"hgvs_p": "p.Val1249Ile",
"transcript": "ENST00000934864.1",
"protein_id": "ENSP00000604923.1",
"transcript_support_level": null,
"aa_start": 1249,
"aa_end": null,
"aa_length": 1343,
"cds_start": 3745,
"cds_end": null,
"cds_length": 4032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934864.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3739G>A",
"hgvs_p": "p.Val1247Ile",
"transcript": "ENST00000934861.1",
"protein_id": "ENSP00000604920.1",
"transcript_support_level": null,
"aa_start": 1247,
"aa_end": null,
"aa_length": 1341,
"cds_start": 3739,
"cds_end": null,
"cds_length": 4026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934861.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3703G>A",
"hgvs_p": "p.Val1235Ile",
"transcript": "ENST00000934863.1",
"protein_id": "ENSP00000604922.1",
"transcript_support_level": null,
"aa_start": 1235,
"aa_end": null,
"aa_length": 1329,
"cds_start": 3703,
"cds_end": null,
"cds_length": 3990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934863.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3568G>A",
"hgvs_p": "p.Val1190Ile",
"transcript": "NM_001329963.1",
"protein_id": "NP_001316892.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3568,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329963.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.1708G>A",
"hgvs_p": "p.Val570Ile",
"transcript": "ENST00000452978.5",
"protein_id": "ENSP00000397841.1",
"transcript_support_level": 5,
"aa_start": 570,
"aa_end": null,
"aa_length": 664,
"cds_start": 1708,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452978.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Val1292Ile",
"transcript": "XM_011533154.3",
"protein_id": "XP_011531456.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533154.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Val1292Ile",
"transcript": "XM_011533155.3",
"protein_id": "XP_011531457.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1386,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4161,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533155.3"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Val1292Ile",
"transcript": "XM_011533156.4",
"protein_id": "XP_011531458.1",
"transcript_support_level": null,
"aa_start": 1292,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3874,
"cds_end": null,
"cds_length": 4029,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011533156.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3568G>A",
"hgvs_p": "p.Val1190Ile",
"transcript": "XM_024453215.1",
"protein_id": "XP_024308983.1",
"transcript_support_level": null,
"aa_start": 1190,
"aa_end": null,
"aa_length": 1284,
"cds_start": 3568,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453215.1"
},
{
"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": 22,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "c.3682-4416G>A",
"hgvs_p": null,
"transcript": "ENST00000934865.1",
"protein_id": "ENSP00000604924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1274,
"cds_start": null,
"cds_end": null,
"cds_length": 3825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934865.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"hgvs_c": "n.166G>A",
"hgvs_p": null,
"transcript": "ENST00000477981.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000477981.1"
}
],
"gene_symbol": "DHX57",
"gene_hgnc_id": 20086,
"dbsnp": "rs748146523",
"frequency_reference_population": 0.000009912977,
"hom_count_reference_population": 0,
"allele_count_reference_population": 16,
"gnomad_exomes_af": 0.0000102607,
"gnomad_genomes_af": 0.00000657203,
"gnomad_exomes_ac": 15,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.24614489078521729,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.154,
"revel_prediction": "Benign",
"alphamissense_score": 0.0798,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.33,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.952,
"phylop100way_prediction": "Uncertain_significance",
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_198963.3",
"gene_symbol": "DHX57",
"hgnc_id": 20086,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.3874G>A",
"hgvs_p": "p.Val1292Ile"
}
],
"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
}