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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: 3-53723855-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53723855&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53723855,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000350061.11",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2016G>A",
"hgvs_p": "p.Ser672Ser",
"transcript": "NM_000720.4",
"protein_id": "NP_000711.1",
"transcript_support_level": null,
"aa_start": 672,
"aa_end": null,
"aa_length": 2181,
"cds_start": 2016,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "ENST00000288139.11",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2016G>A",
"hgvs_p": "p.Ser672Ser",
"transcript": "ENST00000288139.11",
"protein_id": "ENSP00000288139.3",
"transcript_support_level": 1,
"aa_start": 672,
"aa_end": null,
"aa_length": 2181,
"cds_start": 2016,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 9429,
"mane_select": null,
"mane_plus": "NM_000720.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Ser652Ser",
"transcript": "NM_001128840.3",
"protein_id": "NP_001122312.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 2161,
"cds_start": 1956,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "ENST00000350061.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Ser652Ser",
"transcript": "ENST00000350061.11",
"protein_id": "ENSP00000288133.5",
"transcript_support_level": 1,
"aa_start": 652,
"aa_end": null,
"aa_length": 2161,
"cds_start": 1956,
"cds_end": null,
"cds_length": 6486,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 9369,
"mane_select": "NM_001128840.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2016G>A",
"hgvs_p": "p.Ser672Ser",
"transcript": "ENST00000481478.2",
"protein_id": "ENSP00000418014.2",
"transcript_support_level": 1,
"aa_start": 672,
"aa_end": null,
"aa_length": 2181,
"cds_start": 2016,
"cds_end": null,
"cds_length": 6546,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 7204,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Ser652Ser",
"transcript": "ENST00000422281.7",
"protein_id": "ENSP00000409174.2",
"transcript_support_level": 1,
"aa_start": 652,
"aa_end": null,
"aa_length": 2137,
"cds_start": 1956,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 7211,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2028G>A",
"hgvs_p": "p.Ser676Ser",
"transcript": "ENST00000637424.1",
"protein_id": "ENSP00000489769.1",
"transcript_support_level": 5,
"aa_start": 676,
"aa_end": null,
"aa_length": 2170,
"cds_start": 2028,
"cds_end": null,
"cds_length": 6513,
"cdna_start": 2371,
"cdna_end": null,
"cdna_length": 6856,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Ser652Ser",
"transcript": "ENST00000636570.1",
"protein_id": "ENSP00000490183.1",
"transcript_support_level": 5,
"aa_start": 652,
"aa_end": null,
"aa_length": 2146,
"cds_start": 1956,
"cds_end": null,
"cds_length": 6441,
"cdna_start": 1956,
"cdna_end": null,
"cdna_length": 6441,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Ser652Ser",
"transcript": "NM_001128839.3",
"protein_id": "NP_001122311.1",
"transcript_support_level": null,
"aa_start": 652,
"aa_end": null,
"aa_length": 2137,
"cds_start": 1956,
"cds_end": null,
"cds_length": 6414,
"cdna_start": 2512,
"cdna_end": null,
"cdna_length": 9297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1956G>A",
"hgvs_p": "p.Ser652Ser",
"transcript": "ENST00000636938.1",
"protein_id": "ENSP00000490039.1",
"transcript_support_level": 5,
"aa_start": 652,
"aa_end": null,
"aa_length": 1647,
"cds_start": 1956,
"cds_end": null,
"cds_length": 4944,
"cdna_start": 2449,
"cdna_end": null,
"cdna_length": 6868,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.1989G>A",
"hgvs_p": "p.Ser663Ser",
"transcript": "ENST00000640483.1",
"protein_id": "ENSP00000491921.1",
"transcript_support_level": 5,
"aa_start": 663,
"aa_end": null,
"aa_length": 1643,
"cds_start": 1989,
"cds_end": null,
"cds_length": 4932,
"cdna_start": 1989,
"cdna_end": null,
"cdna_length": 5673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2016G>A",
"hgvs_p": "p.Ser672Ser",
"transcript": "ENST00000636627.2",
"protein_id": "ENSP00000490889.2",
"transcript_support_level": 5,
"aa_start": 672,
"aa_end": null,
"aa_length": 1625,
"cds_start": 2016,
"cds_end": null,
"cds_length": 4878,
"cdna_start": 2572,
"cdna_end": null,
"cdna_length": 5665,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Ser709Ser",
"transcript": "XM_011534094.3",
"protein_id": "XP_011532396.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 2246,
"cds_start": 2127,
"cds_end": null,
"cds_length": 6741,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Ser709Ser",
"transcript": "XM_017007137.2",
"protein_id": "XP_016862626.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 2246,
"cds_start": 2127,
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"cds_length": 6741,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 9083,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Ser709Ser",
"transcript": "XM_017007138.2",
"protein_id": "XP_016862627.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 2245,
"cds_start": 2127,
"cds_end": null,
"cds_length": 6738,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 9080,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Ser709Ser",
"transcript": "XM_017007139.2",
"protein_id": "XP_016862628.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 2237,
"cds_start": 2127,
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"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 9056,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2067G>A",
"hgvs_p": "p.Ser689Ser",
"transcript": "XM_017007140.2",
"protein_id": "XP_016862629.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 2226,
"cds_start": 2067,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2067G>A",
"hgvs_p": "p.Ser689Ser",
"transcript": "XM_017007141.2",
"protein_id": "XP_016862630.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 2226,
"cds_start": 2067,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 2082,
"cdna_end": null,
"cdna_length": 9023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Ser709Ser",
"transcript": "XM_047448871.1",
"protein_id": "XP_047304827.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 2222,
"cds_start": 2127,
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"cdna_end": null,
"cdna_length": 9011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Ser709Ser",
"transcript": "XM_017007142.2",
"protein_id": "XP_016862631.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 2218,
"cds_start": 2127,
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"cdna_start": 2142,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Ser709Ser",
"transcript": "XM_017007143.2",
"protein_id": "XP_016862632.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 2218,
"cds_start": 2127,
"cds_end": null,
"cds_length": 6657,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 8999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.2127G>A",
"hgvs_p": "p.Ser709Ser",
"transcript": "XM_017007144.2",
"protein_id": "XP_016862633.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 2218,
"cds_start": 2127,
"cds_end": null,
"cds_length": 6657,
"cdna_start": 2142,
"cdna_end": null,
"cdna_length": 8999,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
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}
],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.69,
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"acmg_score": -7,
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"acmg_by_gene": [
{
"score": -7,
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"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}