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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: 5-177512163-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=177512163&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Strong",
"BP6",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "DDX41",
"hgnc_id": 18674,
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ala555Ala",
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_016222.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong,BP6,BP7",
"acmg_score": -6,
"allele_count_reference_population": 23,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.49,
"chr": "5",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Inborn genetic diseases,not provided,not specified",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.49000000953674316,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 622,
"aa_ref": "A",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_016222.4",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ala555Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000330503.12",
"protein_coding": true,
"protein_id": "NP_057306.2",
"strand": false,
"transcript": "NM_016222.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 622,
"aa_ref": "A",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 1681,
"cds_end": null,
"cds_length": 1869,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000330503.12",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ala555Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016222.4",
"protein_coding": true,
"protein_id": "ENSP00000330349.8",
"strand": false,
"transcript": "ENST00000330503.12",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000507955.6",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "n.*873C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422753.2",
"strand": false,
"transcript": "ENST00000507955.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2230,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000507955.6",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "n.*873C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000422753.2",
"strand": false,
"transcript": "ENST00000507955.6",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 629,
"aa_ref": "A",
"aa_start": 562,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2109,
"cdna_start": 1691,
"cds_end": null,
"cds_length": 1890,
"cds_start": 1686,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000904584.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1686C>T",
"hgvs_p": "p.Ala562Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574643.1",
"strand": false,
"transcript": "ENST00000904584.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 623,
"aa_ref": "A",
"aa_start": 556,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2102,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 1872,
"cds_start": 1668,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000904582.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1668C>T",
"hgvs_p": "p.Ala556Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574641.1",
"strand": false,
"transcript": "ENST00000904582.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 621,
"aa_ref": "A",
"aa_start": 555,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2085,
"cdna_start": 1670,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1665,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000904586.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1665C>T",
"hgvs_p": "p.Ala555Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574645.1",
"strand": false,
"transcript": "ENST00000904586.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 621,
"aa_ref": "A",
"aa_start": 554,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2116,
"cdna_start": 1690,
"cds_end": null,
"cds_length": 1866,
"cds_start": 1662,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000935788.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1662C>T",
"hgvs_p": "p.Ala554Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605847.1",
"strand": false,
"transcript": "ENST00000935788.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 620,
"aa_ref": "A",
"aa_start": 553,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2111,
"cdna_start": 1693,
"cds_end": null,
"cds_length": 1863,
"cds_start": 1659,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000959789.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1659C>T",
"hgvs_p": "p.Ala553Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000629848.1",
"strand": false,
"transcript": "ENST00000959789.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 618,
"aa_ref": "A",
"aa_start": 551,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2086,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1857,
"cds_start": 1653,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000904583.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1653C>T",
"hgvs_p": "p.Ala551Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574642.1",
"strand": false,
"transcript": "ENST00000904583.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 616,
"aa_ref": "A",
"aa_start": 549,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2070,
"cdna_start": 1652,
"cds_end": null,
"cds_length": 1851,
"cds_start": 1647,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000904585.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1647C>T",
"hgvs_p": "p.Ala549Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574644.1",
"strand": false,
"transcript": "ENST00000904585.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 598,
"aa_ref": "A",
"aa_start": 531,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2026,
"cdna_start": 1608,
"cds_end": null,
"cds_length": 1797,
"cds_start": 1593,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000935789.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1593C>T",
"hgvs_p": "p.Ala531Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000605848.1",
"strand": false,
"transcript": "ENST00000935789.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 578,
"aa_ref": "A",
"aa_start": 511,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1955,
"cdna_start": 1538,
"cds_end": null,
"cds_length": 1737,
"cds_start": 1533,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000904587.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1533C>T",
"hgvs_p": "p.Ala511Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000574646.1",
"strand": false,
"transcript": "ENST00000904587.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 496,
"aa_ref": "A",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2376,
"cdna_start": 1958,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1287,
"consequences": [
"synonymous_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_001321732.2",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1287C>T",
"hgvs_p": "p.Ala429Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308661.1",
"strand": false,
"transcript": "NM_001321732.2",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 496,
"aa_ref": "A",
"aa_start": 429,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2168,
"cdna_start": 1750,
"cds_end": null,
"cds_length": 1491,
"cds_start": 1287,
"consequences": [
"synonymous_variant"
],
"exon_count": 17,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "NM_001321830.2",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "c.1287C>T",
"hgvs_p": "p.Ala429Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308759.1",
"strand": false,
"transcript": "NM_001321830.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2375,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 16,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000503078.5",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "n.1958C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000503078.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2949,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000505081.5",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "n.2532C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000505081.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1564,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000507900.5",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "n.1169C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000507900.5",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 686,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000512334.5",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000512334.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 1708,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 14,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000650742.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "n.1648C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000650742.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1179,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000652565.1",
"gene_hgnc_id": 18674,
"gene_symbol": "DDX41",
"hgvs_c": "n.780C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
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}