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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: 12-54282381-GT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=54282381&ref=GT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 8,
"criteria": [
"BS1",
"BS2"
],
"effects": [
"splice_region_variant",
"intron_variant"
],
"gene_symbol": "HNRNPA1",
"hgnc_id": 5031,
"hgvs_c": "c.491-3delT",
"hgvs_p": null,
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -8,
"transcript": "NM_031157.4",
"verdict": "Benign"
},
{
"benign_score": 0,
"criteria": [],
"effects": [
"intron_variant"
],
"gene_symbol": "ENSG00000258344",
"hgnc_id": null,
"hgvs_c": "n.545+5207delT",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": 0,
"transcript": "ENST00000553061.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BS1,BS2",
"acmg_score": -8,
"allele_count_reference_population": 621,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_031157.4",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-3delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340913.11",
"protein_coding": true,
"protein_id": "NP_112420.1",
"strand": true,
"transcript": "NM_031157.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3744,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000340913.11",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_031157.4",
"protein_coding": true,
"protein_id": "ENSP00000341826.7",
"strand": true,
"transcript": "ENST00000340913.11",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4121,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000546500.5",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448617.1",
"strand": true,
"transcript": "ENST00000546500.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 267,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1539,
"cdna_start": null,
"cds_end": null,
"cds_length": 804,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000547276.5",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000447260.1",
"strand": true,
"transcript": "ENST00000547276.5",
"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": 1234,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000547566.5",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "n.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000449913.1",
"strand": true,
"transcript": "ENST00000547566.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 378,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1896,
"cdna_start": null,
"cds_end": null,
"cds_length": 1137,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 11,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000869553.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000539612.1",
"strand": true,
"transcript": "ENST00000869553.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 372,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2793,
"cdna_start": null,
"cds_end": null,
"cds_length": 1119,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677210.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503610.1",
"strand": true,
"transcript": "ENST00000677210.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 326,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1811,
"cdna_start": null,
"cds_end": null,
"cds_length": 981,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000677375.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000503651.1",
"strand": true,
"transcript": "ENST00000677375.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 325,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1741,
"cdna_start": null,
"cds_end": null,
"cds_length": 978,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938112.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.488-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608171.1",
"strand": true,
"transcript": "ENST00000938112.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3588,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_002136.4",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-3delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_002127.1",
"strand": true,
"transcript": "NM_002136.4",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2596,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550482.2",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446486.2",
"strand": true,
"transcript": "ENST00000550482.2",
"transcript_support_level": 2
},
{
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"aa_length": 320,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1770,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938109.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608168.1",
"strand": true,
"transcript": "ENST00000938109.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
"canonical": false,
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"cds_end": null,
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"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000938110.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608169.1",
"strand": true,
"transcript": "ENST00000938110.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1751,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000938111.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000608170.1",
"strand": true,
"transcript": "ENST00000938111.1",
"transcript_support_level": null
},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000938113.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000608172.1",
"strand": true,
"transcript": "ENST00000938113.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1707,
"cdna_start": null,
"cds_end": null,
"cds_length": 963,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000945499.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000615558.1",
"strand": true,
"transcript": "ENST00000945499.1",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000945500.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000615559.1",
"strand": true,
"transcript": "ENST00000945500.1",
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},
{
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
"exon_rank": null,
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"feature": "ENST00000677249.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000503649.1",
"strand": true,
"transcript": "ENST00000677249.1",
"transcript_support_level": null
},
{
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"biotype": "protein_coding",
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"cdna_start": null,
"cds_end": null,
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"cds_start": null,
"consequences": [
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],
"exon_count": 10,
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"feature": "ENST00000330752.12",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
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"intron_rank": 4,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000333504.8",
"strand": true,
"transcript": "ENST00000330752.12",
"transcript_support_level": 5
},
{
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2067,
"cdna_start": null,
"cds_end": null,
"cds_length": 828,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 10,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000678077.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.356-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000504814.1",
"strand": true,
"transcript": "ENST00000678077.1",
"transcript_support_level": null
},
{
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"aa_end": null,
"aa_length": 252,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1153,
"cdna_start": null,
"cds_end": null,
"cds_length": 759,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 9,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000938114.1",
"gene_hgnc_id": 5031,
"gene_symbol": "HNRNPA1",
"hgvs_c": "c.491-12delT",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
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