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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: 14-24291558-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=24291558&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"PP3_Moderate",
"BA1"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "DHRS1",
"hgnc_id": 16445,
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -6,
"transcript": "NM_138452.3",
"verdict": "Likely_benign"
},
{
"benign_score": 8,
"criteria": [
"PP3_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000288044",
"hgnc_id": null,
"hgvs_c": "n.121-7056G>A",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 2,
"score": -6,
"transcript": "ENST00000669726.4",
"verdict": "Likely_benign"
},
{
"benign_score": 8,
"criteria": [
"PP3_Moderate",
"BA1"
],
"effects": [
"intron_variant"
],
"gene_symbol": "NOP9",
"hgnc_id": 19826,
"hgvs_c": "c.-1341-7056G>A",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -6,
"transcript": "XM_005267385.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PP3_Moderate,BA1",
"acmg_score": -6,
"allele_count_reference_population": 110225,
"alphamissense_prediction": null,
"alphamissense_score": 0.2289,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.16,
"chr": "14",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0026327967643737793,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 946,
"cds_end": null,
"cds_length": 942,
"cds_start": 722,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001136050.3",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000288111.12",
"protein_coding": true,
"protein_id": "NP_001129522.1",
"strand": false,
"transcript": "NM_001136050.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1427,
"cdna_start": 946,
"cds_end": null,
"cds_length": 942,
"cds_start": 722,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000288111.12",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001136050.3",
"protein_coding": true,
"protein_id": "ENSP00000288111.7",
"strand": false,
"transcript": "ENST00000288111.12",
"transcript_support_level": 1
},
{
"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": 1181,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000561281.4",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "n.364C>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": "ENST00000561281.4",
"transcript_support_level": 1
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1472,
"cdna_start": 991,
"cds_end": null,
"cds_length": 942,
"cds_start": 722,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_138452.3",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_612461.1",
"strand": false,
"transcript": "NM_138452.3",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1470,
"cdna_start": 991,
"cds_end": null,
"cds_length": 942,
"cds_start": 722,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000396813.5",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000380027.1",
"strand": false,
"transcript": "ENST00000396813.5",
"transcript_support_level": 2
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1467,
"cdna_start": 988,
"cds_end": null,
"cds_length": 942,
"cds_start": 722,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000860257.1",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530316.1",
"strand": false,
"transcript": "ENST00000860257.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1274,
"cdna_start": 795,
"cds_end": null,
"cds_length": 942,
"cds_start": 722,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000860259.1",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530318.1",
"strand": false,
"transcript": "ENST00000860259.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1446,
"cdna_start": 968,
"cds_end": null,
"cds_length": 942,
"cds_start": 722,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 10,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000941472.1",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611531.1",
"strand": false,
"transcript": "ENST00000941472.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 313,
"aa_ref": "T",
"aa_start": 241,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1350,
"cdna_start": 871,
"cds_end": null,
"cds_length": 942,
"cds_start": 722,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 9,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000941473.1",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.722C>T",
"hgvs_p": "p.Thr241Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000611532.1",
"strand": false,
"transcript": "ENST00000941473.1",
"transcript_support_level": null
},
{
"aa_alt": "I",
"aa_end": null,
"aa_length": 265,
"aa_ref": "T",
"aa_start": 193,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1290,
"cdna_start": 809,
"cds_end": null,
"cds_length": 798,
"cds_start": 578,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000860258.1",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "c.578C>T",
"hgvs_p": "p.Thr193Ile",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000530317.1",
"strand": false,
"transcript": "ENST00000860258.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7431,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_005267385.2",
"gene_hgnc_id": 19826,
"gene_symbol": "NOP9",
"hgvs_c": "c.-1341-7056G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_005267442.1",
"strand": true,
"transcript": "XM_005267385.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7750,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431052.1",
"gene_hgnc_id": 19826,
"gene_symbol": "NOP9",
"hgvs_c": "c.-1660-640G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287008.1",
"strand": true,
"transcript": "XM_047431052.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7834,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431053.1",
"gene_hgnc_id": 19826,
"gene_symbol": "NOP9",
"hgvs_c": "c.-1744-640G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287009.1",
"strand": true,
"transcript": "XM_047431053.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7909,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 13,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431054.1",
"gene_hgnc_id": 19826,
"gene_symbol": "NOP9",
"hgvs_c": "c.-1819-481G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287010.1",
"strand": true,
"transcript": "XM_047431054.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 650,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7595,
"cdna_start": null,
"cds_end": null,
"cds_length": 1953,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 12,
"exon_rank": null,
"exon_rank_end": null,
"feature": "XM_047431055.1",
"gene_hgnc_id": 19826,
"gene_symbol": "NOP9",
"hgvs_c": "c.-1505-879G>A",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047287011.1",
"strand": true,
"transcript": "XM_047431055.1",
"transcript_support_level": null
},
{
"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": 1623,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000558340.1",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "n.*516C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453949.1",
"strand": false,
"transcript": "ENST00000558340.1",
"transcript_support_level": 5
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 719,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000559088.5",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "n.238C>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": "ENST00000559088.5",
"transcript_support_level": 3
},
{
"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": 2027,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 7,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000561273.5",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "n.1248C>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": "ENST00000561273.5",
"transcript_support_level": 5
},
{
"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": 1623,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 8,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000558340.1",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
"hgvs_c": "n.*516C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000453949.1",
"strand": false,
"transcript": "ENST00000558340.1",
"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": 2660,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000561137.5",
"gene_hgnc_id": 16445,
"gene_symbol": "DHRS1",
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