← Back to variant description
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: 8-51831473-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=51831473&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 51831473,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_052937.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "NM_052937.4",
"protein_id": "NP_443169.2",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": "ENST00000522514.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_052937.4"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000522514.6",
"protein_id": "ENSP00000428099.1",
"transcript_support_level": 2,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 4044,
"mane_select": "NM_052937.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522514.6"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Asp150Gly",
"transcript": "ENST00000544451.2",
"protein_id": "ENSP00000444026.1",
"transcript_support_level": 1,
"aa_start": 150,
"aa_end": null,
"aa_length": 281,
"cds_start": 449,
"cds_end": null,
"cds_length": 846,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000544451.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000360540.9",
"protein_id": "ENSP00000353739.5",
"transcript_support_level": 5,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 4252,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360540.9"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000883489.1",
"protein_id": "ENSP00000553548.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 944,
"cdna_end": null,
"cdna_length": 1461,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883489.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000883490.1",
"protein_id": "ENSP00000553549.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000883490.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000952614.1",
"protein_id": "ENSP00000622673.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1329,
"cdna_end": null,
"cdna_length": 4492,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952614.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000952615.1",
"protein_id": "ENSP00000622674.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1117,
"cdna_end": null,
"cdna_length": 4285,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952615.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000952617.1",
"protein_id": "ENSP00000622676.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1178,
"cdna_end": null,
"cdna_length": 4343,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952617.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000952618.1",
"protein_id": "ENSP00000622677.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1019,
"cdna_end": null,
"cdna_length": 2246,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952618.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000952619.1",
"protein_id": "ENSP00000622678.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1146,
"cdna_end": null,
"cdna_length": 1655,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952619.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000952620.1",
"protein_id": "ENSP00000622679.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952620.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "ENST00000952621.1",
"protein_id": "ENSP00000622680.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 1051,
"cdna_end": null,
"cdna_length": 1609,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952621.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.449A>G",
"hgvs_p": "p.Asp150Gly",
"transcript": "NM_001286782.1",
"protein_id": "NP_001273711.1",
"transcript_support_level": null,
"aa_start": 150,
"aa_end": null,
"aa_length": 281,
"cds_start": 449,
"cds_end": null,
"cds_length": 846,
"cdna_start": 524,
"cdna_end": null,
"cdna_length": 3697,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286782.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "NM_001363193.1",
"protein_id": "NP_001350122.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 238,
"cds_start": 677,
"cds_end": null,
"cds_length": 717,
"cdna_start": 879,
"cdna_end": null,
"cdna_length": 1341,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363193.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Asp50Gly",
"transcript": "NM_001286783.2",
"protein_id": "NP_001273712.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 181,
"cds_start": 149,
"cds_end": null,
"cds_length": 546,
"cdna_start": 669,
"cdna_end": null,
"cdna_length": 3834,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286783.2"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.350A>G",
"hgvs_p": "p.Asp117Gly",
"transcript": "ENST00000519554.5",
"protein_id": "ENSP00000430340.1",
"transcript_support_level": 3,
"aa_start": 117,
"aa_end": null,
"aa_length": 129,
"cds_start": 350,
"cds_end": null,
"cds_length": 390,
"cdna_start": 352,
"cdna_end": null,
"cdna_length": 814,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519554.5"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "XM_047421323.1",
"protein_id": "XP_047277279.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 357,
"cds_start": 677,
"cds_end": null,
"cds_length": 1074,
"cdna_start": 30422,
"cdna_end": null,
"cdna_length": 33587,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421323.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly",
"transcript": "XM_047421324.1",
"protein_id": "XP_047277280.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 238,
"cds_start": 677,
"cds_end": null,
"cds_length": 717,
"cdna_start": 826,
"cdna_end": null,
"cdna_length": 982,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421324.1"
},
{
"aa_ref": "D",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.149A>G",
"hgvs_p": "p.Asp50Gly",
"transcript": "XM_047421325.1",
"protein_id": "XP_047277281.1",
"transcript_support_level": null,
"aa_start": 50,
"aa_end": null,
"aa_length": 181,
"cds_start": 149,
"cds_end": null,
"cds_length": 546,
"cdna_start": 477,
"cdna_end": null,
"cdna_length": 3642,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421325.1"
},
{
"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": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "c.308-10755A>G",
"hgvs_p": null,
"transcript": "ENST00000952616.1",
"protein_id": "ENSP00000622675.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 224,
"cds_start": null,
"cds_end": null,
"cds_length": 675,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952616.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"hgvs_c": "n.603A>G",
"hgvs_p": null,
"transcript": "ENST00000519559.1",
"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": 1204,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000519559.1"
}
],
"gene_symbol": "PCMTD1",
"gene_hgnc_id": 30483,
"dbsnp": "rs1404898056",
"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": 0.20212647318840027,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.266,
"revel_prediction": "Benign",
"alphamissense_score": 0.106,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.1,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.184,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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_052937.4",
"gene_symbol": "PCMTD1",
"hgnc_id": 30483,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.677A>G",
"hgvs_p": "p.Asp226Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}