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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: 22-20537211-C-CCCTA (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20537211&ref=C&alt=CCCTA&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20537211,
"ref": "C",
"alt": "CCCTA",
"effect": "frameshift_variant,stop_gained,splice_region_variant",
"transcript": "ENST00000263205.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000263205.11",
"protein_id": "ENSP00000263205.7",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 788,
"cds_start": 155,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003891.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263205.11"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000292733.11",
"protein_id": "ENSP00000292733.7",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 748,
"cds_start": 155,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292733.11"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.76_77insCCTA",
"hgvs_p": "p.Arg26fs",
"transcript": "ENST00000406969.5",
"protein_id": "ENSP00000384344.1",
"transcript_support_level": 1,
"aa_start": 26,
"aa_end": null,
"aa_length": 722,
"cds_start": 77,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000406969.5"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000382974.6",
"protein_id": "ENSP00000372434.2",
"transcript_support_level": 1,
"aa_start": 52,
"aa_end": null,
"aa_length": 677,
"cds_start": 155,
"cds_end": null,
"cds_length": 2034,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000382974.6"
},
{
"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": 18,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.156+8_156+11dupCCTA",
"hgvs_p": null,
"transcript": "NM_001003891.3",
"protein_id": "NP_001003891.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 788,
"cds_start": null,
"cds_end": null,
"cds_length": 2367,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263205.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003891.3"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853225.1",
"protein_id": "ENSP00000523284.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 816,
"cds_start": 155,
"cds_end": null,
"cds_length": 2451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853225.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853226.1",
"protein_id": "ENSP00000523285.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 805,
"cds_start": 155,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853226.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000954416.1",
"protein_id": "ENSP00000624475.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 805,
"cds_start": 155,
"cds_end": null,
"cds_length": 2418,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954416.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853221.1",
"protein_id": "ENSP00000523280.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 793,
"cds_start": 155,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853221.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853223.1",
"protein_id": "ENSP00000523282.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 787,
"cds_start": 155,
"cds_end": null,
"cds_length": 2364,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853223.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853215.1",
"protein_id": "ENSP00000523274.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 780,
"cds_start": 155,
"cds_end": null,
"cds_length": 2343,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853215.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000954418.1",
"protein_id": "ENSP00000624477.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 779,
"cds_start": 155,
"cds_end": null,
"cds_length": 2340,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954418.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000912867.1",
"protein_id": "ENSP00000582926.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 778,
"cds_start": 155,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912867.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853217.1",
"protein_id": "ENSP00000523276.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 772,
"cds_start": 155,
"cds_end": null,
"cds_length": 2319,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853217.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853219.1",
"protein_id": "ENSP00000523278.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 771,
"cds_start": 155,
"cds_end": null,
"cds_length": 2316,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853219.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000912869.1",
"protein_id": "ENSP00000582928.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 762,
"cds_start": 155,
"cds_end": null,
"cds_length": 2289,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912869.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000954419.1",
"protein_id": "ENSP00000624478.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 759,
"cds_start": 155,
"cds_end": null,
"cds_length": 2280,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954419.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853220.1",
"protein_id": "ENSP00000523279.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 739,
"cds_start": 155,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853220.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000954415.1",
"protein_id": "ENSP00000624474.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 738,
"cds_start": 155,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954415.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853218.1",
"protein_id": "ENSP00000523277.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 732,
"cds_start": 155,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853218.1"
},
{
"aa_ref": "R",
"aa_alt": "P*?",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant",
"stop_gained",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.154_155insCCTA",
"hgvs_p": "p.Arg52fs",
"transcript": "ENST00000853213.1",
"protein_id": "ENSP00000523272.1",
"transcript_support_level": null,
"aa_start": 52,
"aa_end": null,
"aa_length": 731,
"cds_start": 155,
"cds_end": null,
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"phenotype_combined": "not provided",
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}
],
"message": null
}