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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: 20-46352190-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=20&pos=46352190&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "20",
"pos": 46352190,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001281458.2",
"consequences": [
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "NM_015945.12",
"protein_id": "NP_057029.8",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000372230.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015945.12"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000372230.10",
"protein_id": "ENSP00000361304.5",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015945.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372230.10"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000243896.6",
"protein_id": "ENSP00000243896.2",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000243896.6"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000372227.5",
"protein_id": "ENSP00000361301.1",
"transcript_support_level": 1,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000372227.5"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.635T>G",
"hgvs_p": "p.Phe212Cys",
"transcript": "ENST00000543605.5",
"protein_id": "ENSP00000439974.2",
"transcript_support_level": 1,
"aa_start": 212,
"aa_end": null,
"aa_length": 344,
"cds_start": 635,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000543605.5"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"hgvs_c": "c.785T>G",
"hgvs_p": "p.Phe262Cys",
"transcript": "NM_001281458.2",
"protein_id": "NP_001268387.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 394,
"cds_start": 785,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281458.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.785T>G",
"hgvs_p": "p.Phe262Cys",
"transcript": "ENST00000317734.12",
"protein_id": "ENSP00000318960.9",
"transcript_support_level": 2,
"aa_start": 262,
"aa_end": null,
"aa_length": 394,
"cds_start": 785,
"cds_end": null,
"cds_length": 1185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000317734.12"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.740T>G",
"hgvs_p": "p.Phe247Cys",
"transcript": "ENST00000873054.1",
"protein_id": "ENSP00000543113.1",
"transcript_support_level": null,
"aa_start": 247,
"aa_end": null,
"aa_length": 379,
"cds_start": 740,
"cds_end": null,
"cds_length": 1140,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873054.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.728T>G",
"hgvs_p": "p.Phe243Cys",
"transcript": "ENST00000947091.1",
"protein_id": "ENSP00000617150.1",
"transcript_support_level": null,
"aa_start": 243,
"aa_end": null,
"aa_length": 375,
"cds_start": 728,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947091.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.725T>G",
"hgvs_p": "p.Phe242Cys",
"transcript": "ENST00000947090.1",
"protein_id": "ENSP00000617149.1",
"transcript_support_level": null,
"aa_start": 242,
"aa_end": null,
"aa_length": 374,
"cds_start": 725,
"cds_end": null,
"cds_length": 1125,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947090.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "NM_001281460.2",
"protein_id": "NP_001268389.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001281460.2"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "NM_173179.4",
"protein_id": "NP_775271.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173179.4"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873046.1",
"protein_id": "ENSP00000543105.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873046.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873047.1",
"protein_id": "ENSP00000543106.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873047.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873050.1",
"protein_id": "ENSP00000543109.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873050.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873051.1",
"protein_id": "ENSP00000543110.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873051.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873052.1",
"protein_id": "ENSP00000543111.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873052.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873056.1",
"protein_id": "ENSP00000543115.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873056.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873057.1",
"protein_id": "ENSP00000543116.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873057.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873058.1",
"protein_id": "ENSP00000543117.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873058.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873059.1",
"protein_id": "ENSP00000543118.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000873059.1"
},
{
"aa_ref": "F",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC35C2",
"gene_hgnc_id": 17117,
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys",
"transcript": "ENST00000873061.1",
"protein_id": "ENSP00000543120.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 365,
"cds_start": 698,
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"gene_hgnc_id": 17117,
"hgvs_c": "n.1008T>G",
"hgvs_p": null,
"transcript": "ENST00000493599.1",
"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": "pseudogene",
"feature": "ENST00000493599.1"
}
],
"gene_symbol": "SLC35H1",
"gene_hgnc_id": 17117,
"dbsnp": "rs201720763",
"frequency_reference_population": 0.000027877206,
"hom_count_reference_population": 0,
"allele_count_reference_population": 45,
"gnomad_exomes_af": 0.0000143652,
"gnomad_genomes_af": 0.000157524,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 24,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.5083010196685791,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.308,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.3405,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.2,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.747,
"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": "",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001281458.2",
"gene_symbol": "SLC35H1",
"hgnc_id": 17117,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.785T>G",
"hgvs_p": "p.Phe262Cys"
},
{
"score": 0,
"benign_score": 0,
"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "ENST00000243896.6",
"gene_symbol": "SLC35C2",
"hgnc_id": 17117,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.698T>G",
"hgvs_p": "p.Phe233Cys"
}
],
"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
}