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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: 14-21101398-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=14&pos=21101398&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "14",
"pos": 21101398,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001146683.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "NM_001395467.1",
"protein_id": "NP_001382396.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000556585.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395467.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000556585.3",
"protein_id": "ENSP00000451229.2",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395467.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000556585.3"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "NM_001146683.2",
"protein_id": "NP_001140155.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001146683.2"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000418511.6",
"protein_id": "ENSP00000453962.1",
"transcript_support_level": 5,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418511.6"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000878425.1",
"protein_id": "ENSP00000548484.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878425.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000878426.1",
"protein_id": "ENSP00000548485.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878426.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000878427.1",
"protein_id": "ENSP00000548486.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878427.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000878429.1",
"protein_id": "ENSP00000548488.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878429.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000919003.1",
"protein_id": "ENSP00000589062.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919003.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000950456.1",
"protein_id": "ENSP00000620515.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 217,
"cds_start": 55,
"cds_end": null,
"cds_length": 654,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950456.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000878430.1",
"protein_id": "ENSP00000548489.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 186,
"cds_start": 55,
"cds_end": null,
"cds_length": 561,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878430.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "NM_001395464.1",
"protein_id": "NP_001382393.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 180,
"cds_start": 55,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395464.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000878428.1",
"protein_id": "ENSP00000548487.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 180,
"cds_start": 55,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878428.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000878431.1",
"protein_id": "ENSP00000548490.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 180,
"cds_start": 55,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878431.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000919006.1",
"protein_id": "ENSP00000589065.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 180,
"cds_start": 55,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919006.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000919008.1",
"protein_id": "ENSP00000589067.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 180,
"cds_start": 55,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919008.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000919009.1",
"protein_id": "ENSP00000589068.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 180,
"cds_start": 55,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919009.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000919007.1",
"protein_id": "ENSP00000589066.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 159,
"cds_start": 55,
"cds_end": null,
"cds_length": 480,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919007.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000950455.1",
"protein_id": "ENSP00000620514.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 143,
"cds_start": 55,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950455.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000950457.1",
"protein_id": "ENSP00000620516.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 143,
"cds_start": 55,
"cds_end": null,
"cds_length": 432,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950457.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"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": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000919004.1",
"protein_id": "ENSP00000589063.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 131,
"cds_start": 55,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919004.1"
},
{
"aa_ref": "K",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu",
"transcript": "ENST00000919005.1",
"protein_id": "ENSP00000589064.1",
"transcript_support_level": null,
"aa_start": 19,
"aa_end": null,
"aa_length": 131,
"cds_start": 55,
"cds_end": null,
"cds_length": 396,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000919005.1"
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"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"hgvs_c": "n.-200A>G",
"hgvs_p": null,
"transcript": "ENST00000555314.1",
"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": "retained_intron",
"feature": "ENST00000555314.1"
}
],
"gene_symbol": "TMEM253",
"gene_hgnc_id": 32545,
"dbsnp": "rs1263427106",
"frequency_reference_population": 0.000003867001,
"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000285847,
"gnomad_genomes_af": 0.0000131373,
"gnomad_exomes_ac": 4,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.18644559383392334,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.134,
"revel_prediction": "Benign",
"alphamissense_score": 0.3623,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.15,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.762,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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_001146683.2",
"gene_symbol": "TMEM253",
"hgnc_id": 32545,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.55A>G",
"hgvs_p": "p.Lys19Glu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001102454.2",
"gene_symbol": "ZNF219",
"hgnc_id": 13011,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.-84+3113T>C",
"hgvs_p": null
}
],
"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
}