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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: 14-32824025-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=32824025&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 32824025,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_004274.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "NM_004274.5",
"protein_id": "NP_004265.3",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000280979.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004274.5"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "ENST00000280979.9",
"protein_id": "ENSP00000280979.4",
"transcript_support_level": 1,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004274.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000280979.9"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "ENST00000851220.1",
"protein_id": "ENSP00000521279.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851220.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "ENST00000851221.1",
"protein_id": "ENSP00000521280.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851221.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "ENST00000851222.1",
"protein_id": "ENSP00000521281.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851222.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6215T>C",
"hgvs_p": "p.Leu2072Pro",
"transcript": "XM_017021808.3",
"protein_id": "XP_016877297.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2320,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017021808.3"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6215T>C",
"hgvs_p": "p.Leu2072Pro",
"transcript": "XM_024449754.2",
"protein_id": "XP_024305522.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2320,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449754.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6215T>C",
"hgvs_p": "p.Leu2072Pro",
"transcript": "XM_024449755.2",
"protein_id": "XP_024305523.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2320,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449755.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6215T>C",
"hgvs_p": "p.Leu2072Pro",
"transcript": "XM_024449756.2",
"protein_id": "XP_024305524.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2320,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449756.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6215T>C",
"hgvs_p": "p.Leu2072Pro",
"transcript": "XM_024449757.2",
"protein_id": "XP_024305525.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2320,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449757.2"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6215T>C",
"hgvs_p": "p.Leu2072Pro",
"transcript": "XM_047431966.1",
"protein_id": "XP_047287922.1",
"transcript_support_level": null,
"aa_start": 2072,
"aa_end": null,
"aa_length": 2320,
"cds_start": 6215,
"cds_end": null,
"cds_length": 6963,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431966.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "XM_047431967.1",
"protein_id": "XP_047287923.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431967.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "XM_047431968.1",
"protein_id": "XP_047287924.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431968.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "XM_047431969.1",
"protein_id": "XP_047287925.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431969.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro",
"transcript": "XM_047431970.1",
"protein_id": "XP_047287926.1",
"transcript_support_level": null,
"aa_start": 2071,
"aa_end": null,
"aa_length": 2319,
"cds_start": 6212,
"cds_end": null,
"cds_length": 6960,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431970.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.5489T>C",
"hgvs_p": "p.Leu1830Pro",
"transcript": "XM_047431971.1",
"protein_id": "XP_047287927.1",
"transcript_support_level": null,
"aa_start": 1830,
"aa_end": null,
"aa_length": 2078,
"cds_start": 5489,
"cds_end": null,
"cds_length": 6237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047431971.1"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.3500T>C",
"hgvs_p": "p.Leu1167Pro",
"transcript": "XM_011537378.4",
"protein_id": "XP_011535680.1",
"transcript_support_level": null,
"aa_start": 1167,
"aa_end": null,
"aa_length": 1415,
"cds_start": 3500,
"cds_end": null,
"cds_length": 4248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537378.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.3431T>C",
"hgvs_p": "p.Leu1144Pro",
"transcript": "XM_011537379.4",
"protein_id": "XP_011535681.1",
"transcript_support_level": null,
"aa_start": 1144,
"aa_end": null,
"aa_length": 1392,
"cds_start": 3431,
"cds_end": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537379.4"
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.3197T>C",
"hgvs_p": "p.Leu1066Pro",
"transcript": "XM_011537383.4",
"protein_id": "XP_011535685.1",
"transcript_support_level": null,
"aa_start": 1066,
"aa_end": null,
"aa_length": 1314,
"cds_start": 3197,
"cds_end": null,
"cds_length": 3945,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011537383.4"
},
{
"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": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"hgvs_c": "c.3589-5823T>C",
"hgvs_p": null,
"transcript": "ENST00000557272.1",
"protein_id": "ENSP00000451247.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 1245,
"cds_start": null,
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"cds_length": 3738,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557272.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302430",
"gene_hgnc_id": null,
"hgvs_c": "n.279-2564A>G",
"hgvs_p": null,
"transcript": "ENST00000786608.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000786608.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENSG00000302430",
"gene_hgnc_id": null,
"hgvs_c": "n.215-2564A>G",
"hgvs_p": null,
"transcript": "ENST00000786609.1",
"protein_id": null,
"transcript_support_level": null,
"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": "ENST00000786609.1"
}
],
"gene_symbol": "AKAP6",
"gene_hgnc_id": 376,
"dbsnp": "rs1293959722",
"frequency_reference_population": 0.0000013683579,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000136836,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8411452770233154,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.457,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9891,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.24,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.052,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004274.5",
"gene_symbol": "AKAP6",
"hgnc_id": 376,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.6212T>C",
"hgvs_p": "p.Leu2071Pro"
},
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000786608.1",
"gene_symbol": "ENSG00000302430",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.279-2564A>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}