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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: 5-132486835-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=132486835&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 132486835,
"ref": "G",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_002198.3",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "NM_002198.3",
"protein_id": "NP_002189.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 325,
"cds_start": 374,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000245414.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002198.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "ENST00000245414.9",
"protein_id": "ENSP00000245414.4",
"transcript_support_level": 1,
"aa_start": 125,
"aa_end": null,
"aa_length": 325,
"cds_start": 374,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002198.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000245414.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-169+37146G>T",
"hgvs_p": null,
"transcript": "ENST00000638452.2",
"protein_id": "ENSP00000492349.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638452.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CARINH",
"gene_hgnc_id": 33838,
"hgvs_c": "n.924G>T",
"hgvs_p": null,
"transcript": "ENST00000612967.2",
"protein_id": null,
"transcript_support_level": 1,
"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": "pseudogene",
"feature": "ENST00000612967.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.374C>A",
"hgvs_p": null,
"transcript": "ENST00000613424.5",
"protein_id": "ENSP00000480887.1",
"transcript_support_level": 1,
"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": "ENST00000613424.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.401C>A",
"hgvs_p": "p.Ser134*",
"transcript": "ENST00000886279.1",
"protein_id": "ENSP00000556338.1",
"transcript_support_level": null,
"aa_start": 134,
"aa_end": null,
"aa_length": 334,
"cds_start": 401,
"cds_end": null,
"cds_length": 1005,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886279.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "ENST00000405885.6",
"protein_id": "ENSP00000384406.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 325,
"cds_start": 374,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405885.6"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "ENST00000965376.1",
"protein_id": "ENSP00000635435.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 325,
"cds_start": 374,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965376.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.359C>A",
"hgvs_p": "p.Ser120*",
"transcript": "ENST00000886281.1",
"protein_id": "ENSP00000556340.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 320,
"cds_start": 359,
"cds_end": null,
"cds_length": 963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886281.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "NM_001354924.1",
"protein_id": "NP_001341853.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 284,
"cds_start": 374,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354924.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "ENST00000680903.1",
"protein_id": "ENSP00000505720.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 284,
"cds_start": 374,
"cds_end": null,
"cds_length": 855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680903.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "NM_001354925.1",
"protein_id": "NP_001341854.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 263,
"cds_start": 374,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001354925.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "ENST00000680139.1",
"protein_id": "ENSP00000506148.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 263,
"cds_start": 374,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680139.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "ENST00000886280.1",
"protein_id": "ENSP00000556339.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 222,
"cds_start": 374,
"cds_end": null,
"cds_length": 669,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000886280.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*",
"transcript": "ENST00000458069.5",
"protein_id": "ENSP00000396318.1",
"transcript_support_level": 5,
"aa_start": 125,
"aa_end": null,
"aa_length": 191,
"cds_start": 374,
"cds_end": null,
"cds_length": 577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000458069.5"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.293C>A",
"hgvs_p": "p.Ser98*",
"transcript": "ENST00000437654.6",
"protein_id": "ENSP00000405655.2",
"transcript_support_level": 3,
"aa_start": 98,
"aa_end": null,
"aa_length": 188,
"cds_start": 293,
"cds_end": null,
"cds_length": 568,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000437654.6"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.281C>A",
"hgvs_p": "p.Ser94*",
"transcript": "XM_047417153.1",
"protein_id": "XP_047273109.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 294,
"cds_start": 281,
"cds_end": null,
"cds_length": 885,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417153.1"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ser41*",
"transcript": "XM_011543379.3",
"protein_id": "XP_011541681.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 241,
"cds_start": 122,
"cds_end": null,
"cds_length": 726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011543379.3"
},
{
"aa_ref": "S",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "c.122C>A",
"hgvs_p": "p.Ser41*",
"transcript": "XM_047417154.1",
"protein_id": "XP_047273110.1",
"transcript_support_level": null,
"aa_start": 41,
"aa_end": null,
"aa_length": 200,
"cds_start": 122,
"cds_end": null,
"cds_length": 603,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047417154.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-311+37146G>T",
"hgvs_p": null,
"transcript": "ENST00000638568.2",
"protein_id": "ENSP00000491158.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638568.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000283782",
"gene_hgnc_id": null,
"hgvs_c": "c.-169+175G>T",
"hgvs_p": null,
"transcript": "ENST00000640655.2",
"protein_id": "ENSP00000491596.2",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1213,
"cds_start": null,
"cds_end": null,
"cds_length": 3642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640655.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IRF1",
"gene_hgnc_id": 6116,
"hgvs_c": "n.*118C>A",
"hgvs_p": null,
"transcript": "ENST00000439555.2",
"protein_id": "ENSP00000392455.1",
"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": "ENST00000439555.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
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],
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"computational_score_selected": 0.5,
"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
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"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 3.721,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 10,
"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
"score": 10,
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"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_002198.3",
"gene_symbol": "IRF1",
"hgnc_id": 6116,
"effects": [
"stop_gained"
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"inheritance_mode": "AR",
"hgvs_c": "c.374C>A",
"hgvs_p": "p.Ser125*"
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{
"score": 6,
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"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000638452.2",
"gene_symbol": "ENSG00000283782",
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"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-169+37146G>T",
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},
{
"score": 6,
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"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000612967.2",
"gene_symbol": "CARINH",
"hgnc_id": 33838,
"effects": [
"non_coding_transcript_exon_variant"
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"inheritance_mode": "",
"hgvs_c": "n.924G>T",
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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
}