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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: 19-41302728-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=41302728&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HNRNPUL1",
"hgnc_id": 17011,
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001439168.1",
"verdict": "Likely_benign"
},
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS1"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "TGFB1",
"hgnc_id": 11766,
"hgvs_c": "n.303-8C>T",
"hgvs_p": null,
"inheritance_mode": "AD,AR",
"pathogenic_score": 0,
"score": -6,
"transcript": "ENST00000598758.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 8,
"alphamissense_prediction": null,
"alphamissense_score": 0.1255,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.12725192308425903,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_007040.6",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000392006.8",
"protein_coding": true,
"protein_id": "NP_008971.2",
"strand": true,
"transcript": "NM_007040.6",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3925,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000392006.8",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_007040.6",
"protein_coding": true,
"protein_id": "ENSP00000375863.2",
"strand": true,
"transcript": "ENST00000392006.8",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2932,
"cdna_start": 1804,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000602130.5",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000470687.1",
"strand": true,
"transcript": "ENST00000602130.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3426,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000352456.7",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340857.3",
"strand": true,
"transcript": "ENST00000352456.7",
"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": 3043,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000595196.5",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "n.*1327G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000472315.1",
"strand": true,
"transcript": "ENST00000595196.5",
"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": 3043,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000595196.5",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "n.*1327G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000472315.1",
"strand": true,
"transcript": "ENST00000595196.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 866,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3955,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2601,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439168.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426097.1",
"strand": true,
"transcript": "NM_001439168.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 856,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3781,
"cdna_start": 1852,
"cds_end": null,
"cds_length": 2571,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000851914.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521973.1",
"strand": true,
"transcript": "ENST00000851914.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 804,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3769,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2415,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439167.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426096.1",
"strand": true,
"transcript": "NM_001439167.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 792,
"aa_ref": "R",
"aa_start": 584,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3733,
"cdna_start": 1883,
"cds_end": null,
"cds_length": 2379,
"cds_start": 1751,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439169.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1751G>A",
"hgvs_p": "p.Arg584Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426098.1",
"strand": true,
"transcript": "NM_001439169.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 777,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3791,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2334,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439170.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426099.1",
"strand": true,
"transcript": "NM_001439170.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 767,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3761,
"cdna_start": 1719,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001301016.3",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001287945.1",
"strand": true,
"transcript": "NM_001301016.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 767,
"aa_ref": "R",
"aa_start": 495,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2952,
"cdna_start": 1678,
"cds_end": null,
"cds_length": 2304,
"cds_start": 1484,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000263367.7",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1484G>A",
"hgvs_p": "p.Arg495Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000263367.3",
"strand": true,
"transcript": "ENST00000263367.7",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3849,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439171.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426100.1",
"strand": true,
"transcript": "NM_001439171.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3554,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439172.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426101.1",
"strand": true,
"transcript": "NM_001439172.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 766,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3569,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 2301,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439173.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426102.1",
"strand": true,
"transcript": "NM_001439173.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 756,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3819,
"cdna_start": 1777,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001321208.2",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308137.1",
"strand": true,
"transcript": "NM_001321208.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": 1543,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001321211.2",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308140.1",
"strand": true,
"transcript": "NM_001321211.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
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"aa_length": 756,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3539,
"cdna_start": 1497,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001439177.1",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001426106.1",
"strand": true,
"transcript": "NM_001439177.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 756,
"aa_ref": "R",
"aa_start": 484,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3524,
"cdna_start": 1482,
"cds_end": null,
"cds_length": 2271,
"cds_start": 1451,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_144732.5",
"gene_hgnc_id": 17011,
"gene_symbol": "HNRNPUL1",
"hgvs_c": "c.1451G>A",
"hgvs_p": "p.Arg484Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_653333.1",
"strand": true,
"transcript": "NM_144732.5",
"transcript_support_level": null
},
{
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