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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: 12-56712876-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56712876&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56712876,
"ref": "A",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001365896.1",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.6132T>A",
"hgvs_p": "p.Ile2044Ile",
"transcript": "NM_001365896.1",
"protein_id": "NP_001352825.1",
"transcript_support_level": null,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2078,
"cds_start": 6132,
"cds_end": null,
"cds_length": 6237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000454682.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365896.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.6132T>A",
"hgvs_p": "p.Ile2044Ile",
"transcript": "ENST00000454682.6",
"protein_id": "ENSP00000403817.1",
"transcript_support_level": 5,
"aa_start": 2044,
"aa_end": null,
"aa_length": 2078,
"cds_start": 6132,
"cds_end": null,
"cds_length": 6237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365896.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000454682.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000356769.7",
"protein_id": "ENSP00000349212.3",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356769.7"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000393891.8",
"protein_id": "ENSP00000377469.4",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393891.8"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000552540.5",
"protein_id": "ENSP00000447821.1",
"transcript_support_level": 1,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552540.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "n.*179T>A",
"hgvs_p": null,
"transcript": "ENST00000547914.5",
"protein_id": "ENSP00000446745.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547914.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "n.*179T>A",
"hgvs_p": null,
"transcript": "ENST00000547914.5",
"protein_id": "ENSP00000446745.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000547914.5"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.2673T>A",
"hgvs_p": "p.Ile891Ile",
"transcript": "NM_001113203.3",
"protein_id": "NP_001106674.2",
"transcript_support_level": null,
"aa_start": 891,
"aa_end": null,
"aa_length": 925,
"cds_start": 2673,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113203.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.2673T>A",
"hgvs_p": "p.Ile891Ile",
"transcript": "ENST00000550952.6",
"protein_id": "ENSP00000448035.1",
"transcript_support_level": 2,
"aa_start": 891,
"aa_end": null,
"aa_length": 925,
"cds_start": 2673,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550952.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.783T>A",
"hgvs_p": "p.Ile261Ile",
"transcript": "ENST00000678047.1",
"protein_id": "ENSP00000503914.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 295,
"cds_start": 783,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678047.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.783T>A",
"hgvs_p": "p.Ile261Ile",
"transcript": "ENST00000901047.1",
"protein_id": "ENSP00000571106.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 295,
"cds_start": 783,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901047.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.783T>A",
"hgvs_p": "p.Ile261Ile",
"transcript": "ENST00000951539.1",
"protein_id": "ENSP00000621598.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 295,
"cds_start": 783,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951539.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.783T>A",
"hgvs_p": "p.Ile261Ile",
"transcript": "ENST00000951540.1",
"protein_id": "ENSP00000621599.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 295,
"cds_start": 783,
"cds_end": null,
"cds_length": 888,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951540.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.603T>A",
"hgvs_p": "p.Ile201Ile",
"transcript": "ENST00000550920.6",
"protein_id": "ENSP00000448039.2",
"transcript_support_level": 5,
"aa_start": 201,
"aa_end": null,
"aa_length": 235,
"cds_start": 603,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550920.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "NM_001320194.2",
"protein_id": "NP_001307123.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 219,
"cds_start": 543,
"cds_end": null,
"cds_length": 660,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320194.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "NM_001113201.3",
"protein_id": "NP_001106672.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113201.3"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "NM_001113202.2",
"protein_id": "NP_001106673.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001113202.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "NM_001320193.2",
"protein_id": "NP_001307122.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001320193.2"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "NM_005594.6",
"protein_id": "NP_005585.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005594.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000546392.6",
"protein_id": "ENSP00000446801.1",
"transcript_support_level": 2,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000546392.6"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000678066.1",
"protein_id": "ENSP00000503345.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678066.1"
},
{
"aa_ref": "I",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NACA",
"gene_hgnc_id": 7629,
"hgvs_c": "c.543T>A",
"hgvs_p": "p.Ile181Ile",
"transcript": "ENST00000901048.1",
"protein_id": "ENSP00000571107.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 215,
"cds_start": 543,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000901048.1"
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"alphamissense_score": null,
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"bayesdelnoaf_score": -0.59,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.153,
"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -13,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
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"criteria": [
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"BP7",
"BA1"
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"verdict": "Benign",
"transcript": "NM_001365896.1",
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"effects": [
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"inheritance_mode": "AR",
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{
"score": -12,
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"BA1"
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"verdict": "Benign",
"transcript": "ENST00000821264.1",
"gene_symbol": "ENSG00000306812",
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"effects": [
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}