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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: 20-38988876-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=38988876&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 38988876,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021931.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "NM_021931.4",
"protein_id": "NP_068750.2",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 703,
"cds_start": 409,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000252011.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021931.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "ENST00000252011.8",
"protein_id": "ENSP00000252011.3",
"transcript_support_level": 1,
"aa_start": 137,
"aa_end": null,
"aa_length": 703,
"cds_start": 409,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021931.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252011.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "ENST00000954514.1",
"protein_id": "ENSP00000624573.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 720,
"cds_start": 409,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954514.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.403C>T",
"hgvs_p": "p.Arg135Cys",
"transcript": "ENST00000954516.1",
"protein_id": "ENSP00000624575.1",
"transcript_support_level": null,
"aa_start": 135,
"aa_end": null,
"aa_length": 701,
"cds_start": 403,
"cds_end": null,
"cds_length": 2106,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954516.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "ENST00000373325.6",
"protein_id": "ENSP00000362422.2",
"transcript_support_level": 5,
"aa_start": 137,
"aa_end": null,
"aa_length": 679,
"cds_start": 409,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373325.6"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "NM_001190809.2",
"protein_id": "NP_001177738.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 672,
"cds_start": 316,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001190809.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "ENST00000373323.8",
"protein_id": "ENSP00000362420.3",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 672,
"cds_start": 316,
"cds_end": null,
"cds_length": 2019,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373323.8"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "ENST00000933117.1",
"protein_id": "ENSP00000603176.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 659,
"cds_start": 409,
"cds_end": null,
"cds_length": 1980,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933117.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "ENST00000954515.1",
"protein_id": "ENSP00000624574.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 628,
"cds_start": 409,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954515.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "XM_011528972.3",
"protein_id": "XP_011527274.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 677,
"cds_start": 409,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528972.3"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.316C>T",
"hgvs_p": "p.Arg106Cys",
"transcript": "XM_047440354.1",
"protein_id": "XP_047296310.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 646,
"cds_start": 316,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440354.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "XM_011528974.2",
"protein_id": "XP_011527276.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 497,
"cds_start": 409,
"cds_end": null,
"cds_length": 1494,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011528974.2"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "XM_047440355.1",
"protein_id": "XP_047296311.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 440,
"cds_start": 409,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440355.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys",
"transcript": "XM_047440356.1",
"protein_id": "XP_047296312.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 440,
"cds_start": 409,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047440356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.268-12854C>T",
"hgvs_p": null,
"transcript": "ENST00000863972.1",
"protein_id": "ENSP00000534031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 578,
"cds_start": null,
"cds_end": null,
"cds_length": 1737,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863972.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.*48C>T",
"hgvs_p": null,
"transcript": "ENST00000484417.5",
"protein_id": "ENSP00000432603.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000484417.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.*48C>T",
"hgvs_p": null,
"transcript": "ENST00000652169.1",
"protein_id": "ENSP00000498405.1",
"transcript_support_level": null,
"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": "ENST00000652169.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.453C>T",
"hgvs_p": null,
"transcript": "NR_033905.2",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_033905.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.433C>T",
"hgvs_p": null,
"transcript": "XR_007067474.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007067474.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.433C>T",
"hgvs_p": null,
"transcript": "XR_007067475.1",
"protein_id": null,
"transcript_support_level": null,
"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": "XR_007067475.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.*48C>T",
"hgvs_p": null,
"transcript": "ENST00000484417.5",
"protein_id": "ENSP00000432603.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000484417.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.*48C>T",
"hgvs_p": null,
"transcript": "ENST00000652169.1",
"protein_id": "ENSP00000498405.1",
"transcript_support_level": null,
"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": "ENST00000652169.1"
}
],
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"dbsnp": "rs745898771",
"frequency_reference_population": 0.000036563797,
"hom_count_reference_population": 0,
"allele_count_reference_population": 59,
"gnomad_exomes_af": 0.0000348944,
"gnomad_genomes_af": 0.0000526094,
"gnomad_exomes_ac": 51,
"gnomad_genomes_ac": 8,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9692364931106567,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.588,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9618,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.757,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_021931.4",
"gene_symbol": "DHX35",
"hgnc_id": 15861,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.409C>T",
"hgvs_p": "p.Arg137Cys"
}
],
"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
}