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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: 12-52950802-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=52950802&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 52950802,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000224.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "NM_000224.3",
"protein_id": "NP_000215.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000388835.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000224.3"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000388835.4",
"protein_id": "ENSP00000373487.3",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000224.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388835.4"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000550600.5",
"protein_id": "ENSP00000447278.1",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 391,
"cds_start": 553,
"cds_end": null,
"cds_length": 1176,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550600.5"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.589C>A",
"hgvs_p": "p.Leu197Ile",
"transcript": "ENST00000872040.1",
"protein_id": "ENSP00000542099.1",
"transcript_support_level": null,
"aa_start": 197,
"aa_end": null,
"aa_length": 442,
"cds_start": 589,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872040.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.583C>A",
"hgvs_p": "p.Leu195Ile",
"transcript": "ENST00000872041.1",
"protein_id": "ENSP00000542100.1",
"transcript_support_level": null,
"aa_start": 195,
"aa_end": null,
"aa_length": 440,
"cds_start": 583,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872041.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "NM_199187.2",
"protein_id": "NP_954657.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_199187.2"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000388837.6",
"protein_id": "ENSP00000373489.2",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000388837.6"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000872037.1",
"protein_id": "ENSP00000542096.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872037.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000930587.1",
"protein_id": "ENSP00000600646.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930587.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000930588.1",
"protein_id": "ENSP00000600647.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930588.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000930589.1",
"protein_id": "ENSP00000600648.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930589.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000930590.1",
"protein_id": "ENSP00000600649.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 430,
"cds_start": 553,
"cds_end": null,
"cds_length": 1293,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930590.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000872038.1",
"protein_id": "ENSP00000542097.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 429,
"cds_start": 553,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872038.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000872039.1",
"protein_id": "ENSP00000542098.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 429,
"cds_start": 553,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872039.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000946970.1",
"protein_id": "ENSP00000617029.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 428,
"cds_start": 553,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946970.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.502C>A",
"hgvs_p": "p.Leu168Ile",
"transcript": "ENST00000872042.1",
"protein_id": "ENSP00000542101.1",
"transcript_support_level": null,
"aa_start": 168,
"aa_end": null,
"aa_length": 413,
"cds_start": 502,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872042.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000946971.1",
"protein_id": "ENSP00000617030.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 412,
"cds_start": 553,
"cds_end": null,
"cds_length": 1239,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000946971.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.460C>A",
"hgvs_p": "p.Leu154Ile",
"transcript": "ENST00000930592.1",
"protein_id": "ENSP00000600651.1",
"transcript_support_level": null,
"aa_start": 154,
"aa_end": null,
"aa_length": 399,
"cds_start": 460,
"cds_end": null,
"cds_length": 1200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930592.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000872043.1",
"protein_id": "ENSP00000542102.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 392,
"cds_start": 553,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872043.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000930593.1",
"protein_id": "ENSP00000600652.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 338,
"cds_start": 553,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930593.1"
},
{
"aa_ref": "L",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile",
"transcript": "ENST00000930591.1",
"protein_id": "ENSP00000600650.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 298,
"cds_start": 553,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930591.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "n.659C>A",
"hgvs_p": null,
"transcript": "ENST00000548015.1",
"protein_id": null,
"transcript_support_level": 2,
"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": "retained_intron",
"feature": "ENST00000548015.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"hgvs_c": "n.939C>A",
"hgvs_p": null,
"transcript": "ENST00000549078.5",
"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": "retained_intron",
"feature": "ENST00000549078.5"
}
],
"gene_symbol": "KRT18",
"gene_hgnc_id": 6430,
"dbsnp": "rs1421413412",
"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": 0.8240683078765869,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.795,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.7654,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 6.171,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000224.3",
"gene_symbol": "KRT18",
"hgnc_id": 6430,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.553C>A",
"hgvs_p": "p.Leu185Ile"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}