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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: 3-53497348-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=53497348&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 53497348,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000720.4",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "NM_000720.4",
"protein_id": "NP_000711.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 2181,
"cds_start": 264,
"cds_end": null,
"cds_length": 6546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "ENST00000288139.11",
"biotype": "protein_coding",
"feature": "NM_000720.4"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "ENST00000288139.11",
"protein_id": "ENSP00000288139.3",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 2181,
"cds_start": 264,
"cds_end": null,
"cds_length": 6546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": "NM_000720.4",
"biotype": "protein_coding",
"feature": "ENST00000288139.11"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "NM_001128840.3",
"protein_id": "NP_001122312.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 2161,
"cds_start": 264,
"cds_end": null,
"cds_length": 6486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000350061.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128840.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "ENST00000350061.11",
"protein_id": "ENSP00000288133.5",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 2161,
"cds_start": 264,
"cds_end": null,
"cds_length": 6486,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001128840.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000350061.11"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "ENST00000481478.2",
"protein_id": "ENSP00000418014.2",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 2181,
"cds_start": 264,
"cds_end": null,
"cds_length": 6546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481478.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "ENST00000422281.7",
"protein_id": "ENSP00000409174.2",
"transcript_support_level": 1,
"aa_start": 88,
"aa_end": null,
"aa_length": 2137,
"cds_start": 264,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000422281.7"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "ENST00000954170.1",
"protein_id": "ENSP00000624229.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 2185,
"cds_start": 264,
"cds_end": null,
"cds_length": 6558,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954170.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.336C>T",
"hgvs_p": "p.Tyr112Tyr",
"transcript": "ENST00000637424.1",
"protein_id": "ENSP00000489769.1",
"transcript_support_level": 5,
"aa_start": 112,
"aa_end": null,
"aa_length": 2170,
"cds_start": 336,
"cds_end": null,
"cds_length": 6513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000637424.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "ENST00000636570.1",
"protein_id": "ENSP00000490183.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 2146,
"cds_start": 264,
"cds_end": null,
"cds_length": 6441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636570.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "NM_001128839.3",
"protein_id": "NP_001122311.1",
"transcript_support_level": null,
"aa_start": 88,
"aa_end": null,
"aa_length": 2137,
"cds_start": 264,
"cds_end": null,
"cds_length": 6414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128839.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "ENST00000636938.1",
"protein_id": "ENSP00000490039.1",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 1647,
"cds_start": 264,
"cds_end": null,
"cds_length": 4944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636938.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.237C>T",
"hgvs_p": "p.Tyr79Tyr",
"transcript": "ENST00000640483.1",
"protein_id": "ENSP00000491921.1",
"transcript_support_level": 5,
"aa_start": 79,
"aa_end": null,
"aa_length": 1643,
"cds_start": 237,
"cds_end": null,
"cds_length": 4932,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000640483.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.264C>T",
"hgvs_p": "p.Tyr88Tyr",
"transcript": "ENST00000636627.2",
"protein_id": "ENSP00000490889.2",
"transcript_support_level": 5,
"aa_start": 88,
"aa_end": null,
"aa_length": 1625,
"cds_start": 264,
"cds_end": null,
"cds_length": 4878,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636627.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_011534094.3",
"protein_id": "XP_011532396.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 2246,
"cds_start": 375,
"cds_end": null,
"cds_length": 6741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011534094.3"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_017007137.2",
"protein_id": "XP_016862626.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 2246,
"cds_start": 375,
"cds_end": null,
"cds_length": 6741,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007137.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_017007138.2",
"protein_id": "XP_016862627.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 2245,
"cds_start": 375,
"cds_end": null,
"cds_length": 6738,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007138.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_017007139.2",
"protein_id": "XP_016862628.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 2237,
"cds_start": 375,
"cds_end": null,
"cds_length": 6714,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007139.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_017007140.2",
"protein_id": "XP_016862629.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 2226,
"cds_start": 375,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007140.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
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"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_017007141.2",
"protein_id": "XP_016862630.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
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"cds_start": 375,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007141.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_047448871.1",
"protein_id": "XP_047304827.1",
"transcript_support_level": null,
"aa_start": 125,
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"cds_start": 375,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047448871.1"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_017007142.2",
"protein_id": "XP_016862631.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 2218,
"cds_start": 375,
"cds_end": null,
"cds_length": 6657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017007142.2"
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CACNA1D",
"gene_hgnc_id": 1391,
"hgvs_c": "c.375C>T",
"hgvs_p": "p.Tyr125Tyr",
"transcript": "XM_017007143.2",
"protein_id": "XP_016862632.1",
"transcript_support_level": null,
"aa_start": 125,
"aa_end": null,
"aa_length": 2218,
"cds_start": 375,
"cds_end": null,
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{
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"clinvar_disease": "Aldosterone-producing adenoma with seizures and neurological abnormalities,Sinoatrial node dysfunction and deafness,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:1 B:6",
"phenotype_combined": "Aldosterone-producing adenoma with seizures and neurological abnormalities|not specified|not provided|Aldosterone-producing adenoma with seizures and neurological abnormalities;Sinoatrial node dysfunction and deafness",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}