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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: 22-20551451-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=20551451&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 20551451,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001003891.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "NM_001003891.3",
"protein_id": "NP_001003891.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 788,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000263205.11",
"protein_id": "ENSP00000263205.7",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 788,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000292733.11",
"protein_id": "ENSP00000292733.7",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 748,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.94C>G",
"hgvs_p": "p.Leu32Val",
"transcript": "ENST00000406969.5",
"protein_id": "ENSP00000384344.1",
"transcript_support_level": 1,
"aa_start": 32,
"aa_end": null,
"aa_length": 722,
"cds_start": 94,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000382974.6",
"protein_id": "ENSP00000372434.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 677,
"cds_start": 172,
"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": [
"5_prime_UTR_premature_start_codon_gain_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.-72C>G",
"hgvs_p": null,
"transcript": "XM_047441402.1",
"protein_id": "XP_047297358.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 707,
"cds_start": null,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047441402.1"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853225.1",
"protein_id": "ENSP00000523284.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 816,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853226.1",
"protein_id": "ENSP00000523285.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 805,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000954416.1",
"protein_id": "ENSP00000624475.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 805,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853221.1",
"protein_id": "ENSP00000523280.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 793,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853223.1",
"protein_id": "ENSP00000523282.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 787,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853215.1",
"protein_id": "ENSP00000523274.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 780,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000954418.1",
"protein_id": "ENSP00000624477.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 779,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000912867.1",
"protein_id": "ENSP00000582926.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 778,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853217.1",
"protein_id": "ENSP00000523276.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 772,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853219.1",
"protein_id": "ENSP00000523278.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 771,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000912869.1",
"protein_id": "ENSP00000582928.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 762,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000954419.1",
"protein_id": "ENSP00000624478.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 759,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "NM_015889.5",
"protein_id": "NP_056973.2",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 748,
"cds_start": 172,
"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": "NM_015889.5"
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853220.1",
"protein_id": "ENSP00000523279.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 739,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000954415.1",
"protein_id": "ENSP00000624474.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 738,
"cds_start": 172,
"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": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val",
"transcript": "ENST00000853218.1",
"protein_id": "ENSP00000523277.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 732,
"cds_start": 172,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"hgvs_c": "n.342-3485C>G",
"hgvs_p": null,
"transcript": "ENST00000477824.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000477824.5"
}
],
"gene_symbol": "MED15",
"gene_hgnc_id": 14248,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.6727097630500793,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.36,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8937,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.16,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.378,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001003891.3",
"gene_symbol": "MED15",
"hgnc_id": 14248,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.172C>G",
"hgvs_p": "p.Leu58Val"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}