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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: 12-53676089-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=53676089&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 53676089,
"ref": "C",
"alt": "A",
"effect": "intron_variant",
"transcript": "NM_001002031.4",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-149+87G>T",
"hgvs_p": null,
"transcript": "ENST00000552242.5",
"protein_id": "ENSP00000448801.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000552242.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-3365G>T",
"hgvs_p": null,
"transcript": "ENST00000936908.1",
"protein_id": "ENSP00000606967.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5497,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936908.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-188G>T",
"hgvs_p": null,
"transcript": "ENST00000936909.1",
"protein_id": "ENSP00000606968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936909.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-166G>T",
"hgvs_p": null,
"transcript": "ENST00000936910.1",
"protein_id": "ENSP00000606969.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1140,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936910.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-2305G>T",
"hgvs_p": null,
"transcript": "ENST00000936913.1",
"protein_id": "ENSP00000606972.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3812,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936913.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-185G>T",
"hgvs_p": null,
"transcript": "ENST00000947896.1",
"protein_id": "ENSP00000617955.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1219,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947896.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-185G>T",
"hgvs_p": null,
"transcript": "ENST00000947898.1",
"protein_id": "ENSP00000617957.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1436,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947898.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.17+87G>T",
"hgvs_p": null,
"transcript": "NM_001002031.4",
"protein_id": "NP_001002031.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001002031.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.17+87G>T",
"hgvs_p": null,
"transcript": "ENST00000673498.1",
"protein_id": "ENSP00000499883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 157,
"cds_start": null,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1163,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673498.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-149+87G>T",
"hgvs_p": null,
"transcript": "NM_001369754.1",
"protein_id": "NP_001356683.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 873,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369754.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-32+153G>T",
"hgvs_p": null,
"transcript": "NM_001369755.1",
"protein_id": "NP_001356684.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 690,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369755.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-32+87G>T",
"hgvs_p": null,
"transcript": "ENST00000338662.6",
"protein_id": "ENSP00000340315.6",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000338662.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-32+153G>T",
"hgvs_p": null,
"transcript": "ENST00000549164.5",
"protein_id": "ENSP00000447317.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 745,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000549164.5"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-32+87G>T",
"hgvs_p": null,
"transcript": "ENST00000894451.1",
"protein_id": "ENSP00000564510.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 977,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894451.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-130+87G>T",
"hgvs_p": null,
"transcript": "ENST00000894452.1",
"protein_id": "ENSP00000564511.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1687,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000894452.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-32+1304G>T",
"hgvs_p": null,
"transcript": "ENST00000936911.1",
"protein_id": "ENSP00000606970.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 696,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936911.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-32+87G>T",
"hgvs_p": null,
"transcript": "ENST00000936912.1",
"protein_id": "ENSP00000606971.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 904,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936912.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-149+153G>T",
"hgvs_p": null,
"transcript": "ENST00000947897.1",
"protein_id": "ENSP00000617956.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1933,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947897.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-31-3444G>T",
"hgvs_p": null,
"transcript": "XM_047428989.1",
"protein_id": "XP_047284945.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 624,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428989.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-68G>T",
"hgvs_p": null,
"transcript": "NM_005176.7",
"protein_id": "NP_005167.3",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": "ENST00000394349.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005176.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-68G>T",
"hgvs_p": null,
"transcript": "ENST00000394349.9",
"protein_id": "ENSP00000377878.5",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 141,
"cds_start": null,
"cds_end": null,
"cds_length": 426,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 632,
"mane_select": "NM_005176.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394349.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ATP5MC2",
"gene_hgnc_id": 842,
"hgvs_c": "c.-180G>T",
"hgvs_p": null,
"transcript": "NM_001369757.1",
"protein_id": "NP_001356686.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 143,
"cds_start": null,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 750,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369757.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
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"phenotype_combined": "not specified",
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}
],
"message": null
}