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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: 1-150968149-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=150968149&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 150968149,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_022075.5",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "NM_022075.5",
"protein_id": "NP_071358.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000368954.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_022075.5"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000368954.10",
"protein_id": "ENSP00000357950.5",
"transcript_support_level": 1,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_022075.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368954.10"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000955084.1",
"protein_id": "ENSP00000625143.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 393,
"cds_start": 344,
"cds_end": null,
"cds_length": 1182,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955084.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885841.1",
"protein_id": "ENSP00000555900.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 389,
"cds_start": 344,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885841.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "NM_181746.4",
"protein_id": "NP_859530.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_181746.4"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000271688.10",
"protein_id": "ENSP00000271688.6",
"transcript_support_level": 5,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000271688.10"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885835.1",
"protein_id": "ENSP00000555894.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885835.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885836.1",
"protein_id": "ENSP00000555895.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885836.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885837.1",
"protein_id": "ENSP00000555896.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885837.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885848.1",
"protein_id": "ENSP00000555907.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885848.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885849.1",
"protein_id": "ENSP00000555908.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885849.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885850.1",
"protein_id": "ENSP00000555909.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885850.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885851.1",
"protein_id": "ENSP00000555910.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885851.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885852.1",
"protein_id": "ENSP00000555911.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885852.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885853.1",
"protein_id": "ENSP00000555912.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885853.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885854.1",
"protein_id": "ENSP00000555913.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885854.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000885855.1",
"protein_id": "ENSP00000555914.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000885855.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000911844.1",
"protein_id": "ENSP00000581903.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911844.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000911845.1",
"protein_id": "ENSP00000581904.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911845.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000955081.1",
"protein_id": "ENSP00000625140.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955081.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.317A>G",
"hgvs_p": "p.Glu106Gly",
"transcript": "ENST00000955082.1",
"protein_id": "ENSP00000625141.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 380,
"cds_start": 317,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955082.1"
},
{
"aa_ref": "E",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly",
"transcript": "ENST00000955083.1",
"protein_id": "ENSP00000625142.1",
"transcript_support_level": null,
"aa_start": 115,
"aa_end": null,
"aa_length": 380,
"cds_start": 344,
"cds_end": null,
"cds_length": 1143,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000955083.1"
},
{
"aa_ref": "E",
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"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"hgvs_c": "n.-17A>G",
"hgvs_p": null,
"transcript": "ENST00000559660.1",
"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": "retained_intron",
"feature": "ENST00000559660.1"
}
],
"gene_symbol": "CERS2",
"gene_hgnc_id": 14076,
"dbsnp": "rs267738",
"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": 0.8407982587814331,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.25999999046325684,
"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
"revel_score": 0.851,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.4968,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.09,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.605,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.26,
"spliceai_max_prediction": "Uncertain_significance",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_022075.5",
"gene_symbol": "CERS2",
"hgnc_id": 14076,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.344A>G",
"hgvs_p": "p.Glu115Gly"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}