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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: 11-111786460-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=111786460&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 111786460,
"ref": "G",
"alt": "C",
"effect": "stop_gained",
"transcript": "NM_001441203.1",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1794C>G",
"hgvs_p": "p.Tyr598*",
"transcript": "NM_024740.2",
"protein_id": "NP_079016.2",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 618,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000616540.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024740.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1794C>G",
"hgvs_p": "p.Tyr598*",
"transcript": "ENST00000616540.5",
"protein_id": "ENSP00000482437.1",
"transcript_support_level": 1,
"aa_start": 598,
"aa_end": null,
"aa_length": 618,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024740.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000616540.5"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000258529",
"gene_hgnc_id": null,
"hgvs_c": "c.2472C>G",
"hgvs_p": "p.Tyr824*",
"transcript": "ENST00000622211.4",
"protein_id": "ENSP00000482396.1",
"transcript_support_level": 2,
"aa_start": 824,
"aa_end": null,
"aa_length": 844,
"cds_start": 2472,
"cds_end": null,
"cds_length": 2535,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622211.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1773C>G",
"hgvs_p": "p.Tyr591*",
"transcript": "ENST00000614444.4",
"protein_id": "ENSP00000484200.1",
"transcript_support_level": 1,
"aa_start": 591,
"aa_end": null,
"aa_length": 611,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614444.4"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>G",
"hgvs_p": "p.Tyr420*",
"transcript": "ENST00000398006.6",
"protein_id": "ENSP00000381090.2",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 440,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398006.6"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1794C>G",
"hgvs_p": "p.Tyr598*",
"transcript": "NM_001441203.1",
"protein_id": "NP_001428132.1",
"transcript_support_level": null,
"aa_start": 598,
"aa_end": null,
"aa_length": 629,
"cds_start": 1794,
"cds_end": null,
"cds_length": 1890,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441203.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1773C>G",
"hgvs_p": "p.Tyr591*",
"transcript": "NM_001352417.1",
"protein_id": "NP_001339346.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 622,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1869,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352417.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1773C>G",
"hgvs_p": "p.Tyr591*",
"transcript": "NM_001077690.1",
"protein_id": "NP_001071158.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 611,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077690.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1773C>G",
"hgvs_p": "p.Tyr591*",
"transcript": "ENST00000928987.1",
"protein_id": "ENSP00000599046.1",
"transcript_support_level": null,
"aa_start": 591,
"aa_end": null,
"aa_length": 611,
"cds_start": 1773,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928987.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1767C>G",
"hgvs_p": "p.Tyr589*",
"transcript": "ENST00000943100.1",
"protein_id": "ENSP00000613159.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 609,
"cds_start": 1767,
"cds_end": null,
"cds_length": 1830,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943100.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1671C>G",
"hgvs_p": "p.Tyr557*",
"transcript": "NM_001441206.1",
"protein_id": "NP_001428135.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 577,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001441206.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1671C>G",
"hgvs_p": "p.Tyr557*",
"transcript": "ENST00000857227.1",
"protein_id": "ENSP00000527286.1",
"transcript_support_level": null,
"aa_start": 557,
"aa_end": null,
"aa_length": 577,
"cds_start": 1671,
"cds_end": null,
"cds_length": 1734,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857227.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1650C>G",
"hgvs_p": "p.Tyr550*",
"transcript": "NM_001352418.1",
"protein_id": "NP_001339347.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 570,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352418.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1650C>G",
"hgvs_p": "p.Tyr550*",
"transcript": "ENST00000857228.1",
"protein_id": "ENSP00000527287.1",
"transcript_support_level": null,
"aa_start": 550,
"aa_end": null,
"aa_length": 570,
"cds_start": 1650,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857228.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1488C>G",
"hgvs_p": "p.Tyr496*",
"transcript": "ENST00000857229.1",
"protein_id": "ENSP00000527288.1",
"transcript_support_level": null,
"aa_start": 496,
"aa_end": null,
"aa_length": 516,
"cds_start": 1488,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000857229.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>G",
"hgvs_p": "p.Tyr427*",
"transcript": "NM_001352419.1",
"protein_id": "NP_001339348.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 458,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352419.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>G",
"hgvs_p": "p.Tyr420*",
"transcript": "NM_001352415.1",
"protein_id": "NP_001339344.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 451,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352415.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1260C>G",
"hgvs_p": "p.Tyr420*",
"transcript": "NM_001352416.1",
"protein_id": "NP_001339345.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 451,
"cds_start": 1260,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352416.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>G",
"hgvs_p": "p.Tyr427*",
"transcript": "NM_001077691.2",
"protein_id": "NP_001071159.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 447,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001077691.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>G",
"hgvs_p": "p.Tyr427*",
"transcript": "NM_001352413.1",
"protein_id": "NP_001339342.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 447,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352413.1"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>G",
"hgvs_p": "p.Tyr427*",
"transcript": "NM_001352414.2",
"protein_id": "NP_001339343.1",
"transcript_support_level": null,
"aa_start": 427,
"aa_end": null,
"aa_length": 447,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001352414.2"
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG9",
"gene_hgnc_id": 15672,
"hgvs_c": "c.1281C>G",
"hgvs_p": "p.Tyr427*",
"transcript": "ENST00000531154.5",
"protein_id": "ENSP00000435517.1",
"transcript_support_level": 2,
"aa_start": 427,
"aa_end": null,
"aa_length": 447,
"cds_start": 1281,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": 0.48,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_classification": "Pathogenic",
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"acmg_by_gene": [
{
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"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_001441203.1",
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"effects": [
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{
"score": 4,
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"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000622211.4",
"gene_symbol": "ENSG00000258529",
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"effects": [
"stop_gained"
],
"inheritance_mode": "",
"hgvs_c": "c.2472C>G",
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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
}