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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: 1-156136027-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=156136027&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 156136027,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001406985.1",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "NM_170707.4",
"protein_id": "NP_733821.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368300.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170707.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000368300.9",
"protein_id": "ENSP00000357283.4",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_170707.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368300.9"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "NM_005572.4",
"protein_id": "NP_005563.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 572,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000677389.1",
"biotype": "protein_coding",
"feature": "NM_005572.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000677389.1",
"protein_id": "ENSP00000503633.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 572,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1719,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_005572.4",
"biotype": "protein_coding",
"feature": "ENST00000677389.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000368299.7",
"protein_id": "ENSP00000357282.3",
"transcript_support_level": 1,
"aa_start": 355,
"aa_end": null,
"aa_length": 614,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1845,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368299.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "n.327C>A",
"hgvs_p": null,
"transcript": "ENST00000368298.2",
"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": "retained_intron",
"feature": "ENST00000368298.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000675667.1",
"protein_id": "ENSP00000501803.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 729,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2190,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675667.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "NM_001406985.1",
"protein_id": "NP_001393914.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 686,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406985.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "NM_001406983.1",
"protein_id": "NP_001393912.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406983.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "NM_001406991.1",
"protein_id": "NP_001393920.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001406991.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000361308.9",
"protein_id": "ENSP00000355292.6",
"transcript_support_level": 5,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361308.9"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000675939.1",
"protein_id": "ENSP00000502256.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675939.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000683032.1",
"protein_id": "ENSP00000506771.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000683032.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000899553.1",
"protein_id": "ENSP00000569612.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899553.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000927999.1",
"protein_id": "ENSP00000598058.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927999.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000968786.1",
"protein_id": "ENSP00000638845.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968786.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000968787.1",
"protein_id": "ENSP00000638846.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 664,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968787.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1018C>A",
"hgvs_p": "p.Gln340Lys",
"transcript": "ENST00000899558.1",
"protein_id": "ENSP00000569617.1",
"transcript_support_level": null,
"aa_start": 340,
"aa_end": null,
"aa_length": 649,
"cds_start": 1018,
"cds_end": null,
"cds_length": 1950,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000899558.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "NM_170708.4",
"protein_id": "NP_733822.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 634,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_170708.4"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000676385.2",
"protein_id": "ENSP00000502091.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 634,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676385.2"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000682650.1",
"protein_id": "ENSP00000506904.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 634,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000682650.1"
},
{
"aa_ref": "Q",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LMNA",
"gene_hgnc_id": 6636,
"hgvs_c": "c.1063C>A",
"hgvs_p": "p.Gln355Lys",
"transcript": "ENST00000968784.1",
"protein_id": "ENSP00000638843.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 634,
"cds_start": 1063,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
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],
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"dbsnp": "rs267607617",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.9630574584007263,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.864,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.903,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
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"PM2",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001406985.1",
"gene_symbol": "LMNA",
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"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.1063C>A",
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],
"clinvar_disease": "Charcot-Marie-Tooth disease type 2",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Charcot-Marie-Tooth disease type 2",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}