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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: 16-69951415-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=69951415&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 69951415,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_182619.5",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "NM_001370523.4",
"protein_id": "NP_001357452.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000288040.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370523.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000288040.11",
"protein_id": "ENSP00000288040.6",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370523.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000288040.11"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000393701.6",
"protein_id": "ENSP00000377304.2",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393701.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000568461.5",
"protein_id": "ENSP00000454685.1",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568461.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000449317.6",
"protein_id": "ENSP00000413990.2",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 455,
"cds_start": 49,
"cds_end": null,
"cds_length": 1368,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000449317.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000966085.1",
"protein_id": "ENSP00000636144.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 451,
"cds_start": 49,
"cds_end": null,
"cds_length": 1356,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966085.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "NM_001136214.4",
"protein_id": "NP_001129686.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001136214.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "NM_001271197.3",
"protein_id": "NP_001258126.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271197.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "NM_182619.5",
"protein_id": "NP_872425.2",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_182619.5"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000615430.4",
"protein_id": "ENSP00000484176.1",
"transcript_support_level": 5,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000615430.4"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "ENST00000889824.1",
"protein_id": "ENSP00000559883.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 366,
"cds_start": 49,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000889824.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_047434058.1",
"protein_id": "XP_047290014.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 476,
"cds_start": 49,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434058.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_047434059.1",
"protein_id": "XP_047290015.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 476,
"cds_start": 49,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434059.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_047434060.1",
"protein_id": "XP_047290016.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 476,
"cds_start": 49,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434060.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_047434061.1",
"protein_id": "XP_047290017.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 476,
"cds_start": 49,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434061.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_047434062.1",
"protein_id": "XP_047290018.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 446,
"cds_start": 49,
"cds_end": null,
"cds_length": 1341,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434062.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_017023208.3",
"protein_id": "XP_016878697.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 396,
"cds_start": 49,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017023208.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_047434063.1",
"protein_id": "XP_047290019.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 391,
"cds_start": 49,
"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": "XM_047434063.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_047434064.1",
"protein_id": "XP_047290020.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 366,
"cds_start": 49,
"cds_end": null,
"cds_length": 1101,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434064.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe",
"transcript": "XM_047434065.1",
"protein_id": "XP_047290021.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 324,
"cds_start": 49,
"cds_end": null,
"cds_length": 975,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434065.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "n.139C>T",
"hgvs_p": null,
"transcript": "ENST00000565705.1",
"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": "ENST00000565705.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "n.242C>T",
"hgvs_p": null,
"transcript": "ENST00000568102.5",
"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": "retained_intron",
"feature": "ENST00000568102.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"hgvs_c": "n.-58C>T",
"hgvs_p": null,
"transcript": "ENST00000565245.1",
"protein_id": null,
"transcript_support_level": 6,
"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": "ENST00000565245.1"
}
],
"gene_symbol": "CLEC18A",
"gene_hgnc_id": 30388,
"dbsnp": "rs1403458848",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": 0.0000239837,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 35,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.05777621269226074,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.027,
"revel_prediction": "Benign",
"alphamissense_score": 0.0875,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.61,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.48,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 4,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_182619.5",
"gene_symbol": "CLEC18A",
"hgnc_id": 30388,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.49C>T",
"hgvs_p": "p.Leu17Phe"
}
],
"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
}