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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: 3-53805040-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53805040&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53805040,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "ENST00000350061.11",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5703C>T",
"hgvs_p": "p.Pro1901Pro",
"transcript": "NM_000720.4",
"protein_id": "NP_000711.1",
"transcript_support_level": null,
"aa_start": 1901,
"aa_end": null,
"aa_length": 2181,
"cds_start": 5703,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 6259,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "ENST00000288139.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5703C>T",
"hgvs_p": "p.Pro1901Pro",
"transcript": "ENST00000288139.11",
"protein_id": "ENSP00000288139.3",
"transcript_support_level": 1,
"aa_start": 1901,
"aa_end": null,
"aa_length": 2181,
"cds_start": 5703,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 6259,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "NM_000720.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5643C>T",
"hgvs_p": "p.Pro1881Pro",
"transcript": "NM_001128840.3",
"protein_id": "NP_001122312.1",
"transcript_support_level": null,
"aa_start": 1881,
"aa_end": null,
"aa_length": 2161,
"cds_start": 5643,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 6199,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "ENST00000350061.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5643C>T",
"hgvs_p": "p.Pro1881Pro",
"transcript": "ENST00000350061.11",
"protein_id": "ENSP00000288133.5",
"transcript_support_level": 1,
"aa_start": 1881,
"aa_end": null,
"aa_length": 2161,
"cds_start": 5643,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 6199,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "NM_001128840.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5703C>T",
"hgvs_p": "p.Pro1901Pro",
"transcript": "ENST00000481478.2",
"protein_id": "ENSP00000418014.2",
"transcript_support_level": 1,
"aa_start": 1901,
"aa_end": null,
"aa_length": 2181,
"cds_start": 5703,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 6259,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5571C>T",
"hgvs_p": "p.Pro1857Pro",
"transcript": "ENST00000422281.7",
"protein_id": "ENSP00000409174.2",
"transcript_support_level": 1,
"aa_start": 1857,
"aa_end": null,
"aa_length": 2137,
"cds_start": 5571,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 5571,
"cdna_end": null,
"cdna_length": 7211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5670C>T",
"hgvs_p": "p.Pro1890Pro",
"transcript": "ENST00000637424.1",
"protein_id": "ENSP00000489769.1",
"transcript_support_level": 5,
"aa_start": 1890,
"aa_end": null,
"aa_length": 2170,
"cds_start": 5670,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 6013,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5598C>T",
"hgvs_p": "p.Pro1866Pro",
"transcript": "ENST00000636570.1",
"protein_id": "ENSP00000490183.1",
"transcript_support_level": 5,
"aa_start": 1866,
"aa_end": null,
"aa_length": 2146,
"cds_start": 5598,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 5598,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5571C>T",
"hgvs_p": "p.Pro1857Pro",
"transcript": "NM_001128839.3",
"protein_id": "NP_001122311.1",
"transcript_support_level": null,
"aa_start": 1857,
"aa_end": null,
"aa_length": 2137,
"cds_start": 5571,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 6127,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5898C>T",
"hgvs_p": "p.Pro1966Pro",
"transcript": "XM_011534094.3",
"protein_id": "XP_011532396.1",
"transcript_support_level": null,
"aa_start": 1966,
"aa_end": null,
"aa_length": 2246,
"cds_start": 5898,
"cds_end": null,
"cds_length": 6741,
"cdna_start": 5913,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5898C>T",
"hgvs_p": "p.Pro1966Pro",
"transcript": "XM_017007137.2",
"protein_id": "XP_016862626.1",
"transcript_support_level": null,
"aa_start": 1966,
"aa_end": null,
"aa_length": 2246,
"cds_start": 5898,
"cds_end": null,
"cds_length": 6741,
"cdna_start": 5913,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5895C>T",
"hgvs_p": "p.Pro1965Pro",
"transcript": "XM_017007138.2",
"protein_id": "XP_016862627.1",
"transcript_support_level": null,
"aa_start": 1965,
"aa_end": null,
"aa_length": 2245,
"cds_start": 5895,
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"cds_length": 6738,
"cdna_start": 5910,
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"cdna_length": 9080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5871C>T",
"hgvs_p": "p.Pro1957Pro",
"transcript": "XM_017007139.2",
"protein_id": "XP_016862628.1",
"transcript_support_level": null,
"aa_start": 1957,
"aa_end": null,
"aa_length": 2237,
"cds_start": 5871,
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"cds_length": 6714,
"cdna_start": 5886,
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"cdna_length": 9056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5838C>T",
"hgvs_p": "p.Pro1946Pro",
"transcript": "XM_017007140.2",
"protein_id": "XP_016862629.1",
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"cds_start": 5838,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5838C>T",
"hgvs_p": "p.Pro1946Pro",
"transcript": "XM_017007141.2",
"protein_id": "XP_016862630.1",
"transcript_support_level": null,
"aa_start": 1946,
"aa_end": null,
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"cds_start": 5838,
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"cdna_start": 5853,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5826C>T",
"hgvs_p": "p.Pro1942Pro",
"transcript": "XM_047448871.1",
"protein_id": "XP_047304827.1",
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5814C>T",
"hgvs_p": "p.Pro1938Pro",
"transcript": "XM_017007142.2",
"protein_id": "XP_016862631.1",
"transcript_support_level": null,
"aa_start": 1938,
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"aa_length": 2218,
"cds_start": 5814,
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"cdna_start": 5829,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5814C>T",
"hgvs_p": "p.Pro1938Pro",
"transcript": "XM_017007143.2",
"protein_id": "XP_016862632.1",
"transcript_support_level": null,
"aa_start": 1938,
"aa_end": null,
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"cds_start": 5814,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 46,
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"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5814C>T",
"hgvs_p": "p.Pro1938Pro",
"transcript": "XM_017007144.2",
"protein_id": "XP_016862633.1",
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},
{
"aa_ref": "P",
"aa_alt": "P",
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"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 45,
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"exon_count": 48,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5793C>T",
"hgvs_p": "p.Pro1931Pro",
"transcript": "XM_011534100.3",
"protein_id": "XP_011532402.1",
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},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 45,
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5769C>T",
"hgvs_p": "p.Pro1923Pro",
"transcript": "XM_017007145.2",
"protein_id": "XP_016862634.1",
"transcript_support_level": null,
"aa_start": 1923,
"aa_end": null,
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"cdna_start": 5784,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.5742C>T",
"hgvs_p": "p.Pro1914Pro",
"transcript": "XM_047448872.1",
"protein_id": "XP_047304828.1",
"transcript_support_level": null,
"aa_start": 1914,
"aa_end": null,
"aa_length": 2194,
"cds_start": 5742,
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"cdna_start": 5757,
"cdna_end": null,
"cdna_length": 8927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 47,
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{
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},
{
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}
],
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"dbsnp": "rs189057793",
"frequency_reference_population": 0.0001988685,
"hom_count_reference_population": 0,
"allele_count_reference_population": 321,
"gnomad_exomes_af": 0.000210005,
"gnomad_genomes_af": 0.0000919456,
"gnomad_exomes_ac": 307,
"gnomad_genomes_ac": 14,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.3400000035762787,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.127,
"phylop100way_prediction": "Benign",
"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": -15,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6_Very_Strong,BP7,BS1",
"acmg_by_gene": [
{
"score": -15,
"benign_score": 15,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6_Very_Strong",
"BP7",
"BS1"
],
"verdict": "Benign",
"transcript": "ENST00000350061.11",
"gene_symbol": "CACNA1D",
"hgnc_id": 1391,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.5643C>T",
"hgvs_p": "p.Pro1881Pro"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}