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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: 16-30987821-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30987821&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HSD3B7",
"hgnc_id": 18324,
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_025193.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"non_coding_transcript_exon_variant"
],
"gene_symbol": "ENSG00000279196",
"hgnc_id": null,
"hgvs_c": "n.450T>C",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000624286.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 971292,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0543,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.58,
"chr": "16",
"clinvar_classification": "Benign",
"clinvar_disease": "Congenital bile acid synthesis defect 1,not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:6",
"computational_prediction_selected": "Benign",
"computational_score_selected": 9.065358312909666e-7,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 845,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_025193.4",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000297679.10",
"protein_coding": true,
"protein_id": "NP_079469.2",
"strand": true,
"transcript": "NM_025193.4",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2171,
"cdna_start": 845,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000297679.10",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_025193.4",
"protein_coding": true,
"protein_id": "ENSP00000297679.5",
"strand": true,
"transcript": "ENST00000297679.10",
"transcript_support_level": 1
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 410,
"aa_ref": "T",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2298,
"cdna_start": 967,
"cds_end": null,
"cds_length": 1233,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867909.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537968.1",
"strand": true,
"transcript": "ENST00000867909.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 410,
"aa_ref": "T",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2292,
"cdna_start": 968,
"cds_end": null,
"cds_length": 1233,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867910.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537969.1",
"strand": true,
"transcript": "ENST00000867910.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 410,
"aa_ref": "T",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2449,
"cdna_start": 1123,
"cds_end": null,
"cds_length": 1233,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000930187.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000600246.1",
"strand": true,
"transcript": "ENST00000930187.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 410,
"aa_ref": "T",
"aa_start": 291,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2646,
"cdna_start": 1323,
"cds_end": null,
"cds_length": 1233,
"cds_start": 871,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000949919.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.871A>G",
"hgvs_p": "p.Thr291Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619978.1",
"strand": true,
"transcript": "ENST00000949919.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 1078,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867900.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537959.1",
"strand": true,
"transcript": "ENST00000867900.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2208,
"cdna_start": 877,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867901.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537960.1",
"strand": true,
"transcript": "ENST00000867901.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2399,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867903.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537962.1",
"strand": true,
"transcript": "ENST00000867903.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2550,
"cdna_start": 1220,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867905.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537964.1",
"strand": true,
"transcript": "ENST00000867905.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2284,
"cdna_start": 959,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867906.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537965.1",
"strand": true,
"transcript": "ENST00000867906.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2200,
"cdna_start": 872,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867908.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537967.1",
"strand": true,
"transcript": "ENST00000867908.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2250,
"cdna_start": 925,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949918.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619977.1",
"strand": true,
"transcript": "ENST00000949918.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 369,
"aa_ref": "T",
"aa_start": 250,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 988,
"cds_end": null,
"cds_length": 1110,
"cds_start": 748,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949921.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.748A>G",
"hgvs_p": "p.Thr250Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619980.1",
"strand": true,
"transcript": "ENST00000949921.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2100,
"cdna_start": 775,
"cds_end": null,
"cds_length": 1017,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867907.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Thr219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537966.1",
"strand": true,
"transcript": "ENST00000867907.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2235,
"cdna_start": 910,
"cds_end": null,
"cds_length": 1017,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000867912.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Thr219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537971.1",
"strand": true,
"transcript": "ENST00000867912.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 338,
"aa_ref": "T",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2062,
"cdna_start": 737,
"cds_end": null,
"cds_length": 1017,
"cds_start": 655,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000949920.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.655A>G",
"hgvs_p": "p.Thr219Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619979.1",
"strand": true,
"transcript": "ENST00000949920.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 317,
"aa_ref": "T",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2048,
"cdna_start": 715,
"cds_end": null,
"cds_length": 954,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867902.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537961.1",
"strand": true,
"transcript": "ENST00000867902.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 317,
"aa_ref": "T",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2040,
"cdna_start": 709,
"cds_end": null,
"cds_length": 954,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867904.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537963.1",
"strand": true,
"transcript": "ENST00000867904.1",
"transcript_support_level": null
},
{
"aa_alt": "A",
"aa_end": null,
"aa_length": 317,
"aa_ref": "T",
"aa_start": 198,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2179,
"cdna_start": 852,
"cds_end": null,
"cds_length": 954,
"cds_start": 592,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000867911.1",
"gene_hgnc_id": 18324,
"gene_symbol": "HSD3B7",
"hgvs_c": "c.592A>G",
"hgvs_p": "p.Thr198Ala",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000537970.1",
"strand": true,
"transcript": "ENST00000867911.1",
"transcript_support_level": null
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