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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: 5-138344935-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=138344935&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 138344935,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016605.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "NM_016605.3",
"protein_id": "NP_057689.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000239906.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016605.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000239906.10",
"protein_id": "ENSP00000239906.5",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016605.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000239906.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000434981.6",
"protein_id": "ENSP00000403705.2",
"transcript_support_level": 1,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000434981.6"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.137-461C>T",
"hgvs_p": null,
"transcript": "ENST00000513056.5",
"protein_id": "ENSP00000425154.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 114,
"cds_start": null,
"cds_end": null,
"cds_length": 345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513056.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "NM_001135647.2",
"protein_id": "NP_001129119.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "NM_001135647.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000889027.1",
"protein_id": "ENSP00000559086.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000889027.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000889030.1",
"protein_id": "ENSP00000559089.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000889030.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000927751.1",
"protein_id": "ENSP00000597811.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000927751.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000927754.1",
"protein_id": "ENSP00000597813.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000927754.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000927755.1",
"protein_id": "ENSP00000597814.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000927755.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000927759.1",
"protein_id": "ENSP00000597818.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000927759.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000960844.1",
"protein_id": "ENSP00000630903.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000960844.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp",
"transcript": "ENST00000960845.1",
"protein_id": "ENSP00000630904.1",
"transcript_support_level": null,
"aa_start": 83,
"aa_end": null,
"aa_length": 392,
"cds_start": 247,
"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": "ENST00000960845.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.244C>T",
"hgvs_p": "p.Arg82Trp",
"transcript": "ENST00000889029.1",
"protein_id": "ENSP00000559088.1",
"transcript_support_level": null,
"aa_start": 82,
"aa_end": null,
"aa_length": 391,
"cds_start": 244,
"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": "ENST00000889029.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Arg73Trp",
"transcript": "NM_001350195.2",
"protein_id": "NP_001337124.1",
"transcript_support_level": null,
"aa_start": 73,
"aa_end": null,
"aa_length": 382,
"cds_start": 217,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350195.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.217C>T",
"hgvs_p": "p.Arg73Trp",
"transcript": "ENST00000511276.1",
"protein_id": "ENSP00000427610.1",
"transcript_support_level": 4,
"aa_start": 73,
"aa_end": null,
"aa_length": 164,
"cds_start": 217,
"cds_end": null,
"cds_length": 497,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000511276.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.137-523C>T",
"hgvs_p": null,
"transcript": "NM_001350194.2",
"protein_id": "NP_001337123.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350194.2"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.137-523C>T",
"hgvs_p": null,
"transcript": "ENST00000889028.1",
"protein_id": "ENSP00000559087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889028.1"
},
{
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "c.137-523C>T",
"hgvs_p": null,
"transcript": "ENST00000927758.1",
"protein_id": "ENSP00000597817.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 181,
"cds_start": null,
"cds_end": null,
"cds_length": 546,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000927758.1"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "n.344C>T",
"hgvs_p": null,
"transcript": "ENST00000505136.1",
"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": "ENST00000505136.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "n.462C>T",
"hgvs_p": null,
"transcript": "ENST00000505768.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000505768.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "n.468C>T",
"hgvs_p": null,
"transcript": "ENST00000507506.5",
"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": "pseudogene",
"feature": "ENST00000507506.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"hgvs_c": "n.435C>T",
"hgvs_p": null,
"transcript": "ENST00000512180.5",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000512180.5"
}
],
"gene_symbol": "FAM53C",
"gene_hgnc_id": 1336,
"dbsnp": "rs747796639",
"frequency_reference_population": 0.000013681407,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000136814,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.16792255640029907,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.0855,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.36,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.59,
"phylop100way_prediction": "Benign",
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_016605.3",
"gene_symbol": "FAM53C",
"hgnc_id": 1336,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.247C>T",
"hgvs_p": "p.Arg83Trp"
}
],
"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
}