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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: 20-39001736-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=39001736&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 39001736,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_021931.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "NM_021931.4",
"protein_id": "NP_068750.2",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 703,
"cds_start": 649,
"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": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "ENST00000252011.8",
"protein_id": "ENSP00000252011.3",
"transcript_support_level": 1,
"aa_start": 217,
"aa_end": null,
"aa_length": 703,
"cds_start": 649,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "ENST00000954514.1",
"protein_id": "ENSP00000624573.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 720,
"cds_start": 649,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "ENST00000954516.1",
"protein_id": "ENSP00000624575.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 701,
"cds_start": 643,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "ENST00000373325.6",
"protein_id": "ENSP00000362422.2",
"transcript_support_level": 5,
"aa_start": 217,
"aa_end": null,
"aa_length": 679,
"cds_start": 649,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "NM_001190809.2",
"protein_id": "NP_001177738.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 672,
"cds_start": 556,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000373323.8",
"protein_id": "ENSP00000362420.3",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 672,
"cds_start": 556,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.517C>T",
"hgvs_p": "p.Arg173Trp",
"transcript": "ENST00000933117.1",
"protein_id": "ENSP00000603176.1",
"transcript_support_level": null,
"aa_start": 173,
"aa_end": null,
"aa_length": 659,
"cds_start": 517,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "ENST00000954515.1",
"protein_id": "ENSP00000624574.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 628,
"cds_start": 649,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.274C>T",
"hgvs_p": "p.Arg92Trp",
"transcript": "ENST00000863972.1",
"protein_id": "ENSP00000534031.1",
"transcript_support_level": null,
"aa_start": 92,
"aa_end": null,
"aa_length": 578,
"cds_start": 274,
"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": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "XM_011528972.3",
"protein_id": "XP_011527274.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 677,
"cds_start": 649,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.556C>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "XM_047440354.1",
"protein_id": "XP_047296310.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 646,
"cds_start": 556,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "XM_011528974.2",
"protein_id": "XP_011527276.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 497,
"cds_start": 649,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "XM_047440355.1",
"protein_id": "XP_047296311.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 440,
"cds_start": 649,
"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": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp",
"transcript": "XM_047440356.1",
"protein_id": "XP_047296312.1",
"transcript_support_level": null,
"aa_start": 217,
"aa_end": null,
"aa_length": 440,
"cds_start": 649,
"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": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.*288C>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": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.*288C>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": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.693C>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": 9,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.673C>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": 9,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.673C>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": 9,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.*288C>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": 9,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DHX35",
"gene_hgnc_id": 15861,
"hgvs_c": "n.*288C>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": "rs539104890",
"frequency_reference_population": 0.00002869215,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000248077,
"gnomad_genomes_af": 0.0000657626,
"gnomad_exomes_ac": 36,
"gnomad_genomes_ac": 10,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.22660982608795166,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.38999998569488525,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.3331,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.099,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.39,
"spliceai_max_prediction": "Uncertain_significance",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_021931.4",
"gene_symbol": "DHX35",
"hgnc_id": 15861,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.649C>T",
"hgvs_p": "p.Arg217Trp"
}
],
"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
}