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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: 10-114201499-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=114201499&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 114201499,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_198795.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001395205.1",
"protein_id": "NP_001382134.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1180,
"cds_start": 619,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000695399.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001395205.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000695399.1",
"protein_id": "ENSP00000511878.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1180,
"cds_start": 619,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001395205.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000695399.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000251864.7",
"protein_id": "ENSP00000251864.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 1189,
"cds_start": 619,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000251864.7"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385363.1",
"protein_id": "NP_001372292.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1189,
"cds_start": 619,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385363.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_198795.2",
"protein_id": "NP_942090.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1189,
"cds_start": 619,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198795.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385364.2",
"protein_id": "NP_001372293.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1180,
"cds_start": 619,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385364.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000952550.1",
"protein_id": "ENSP00000622609.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1180,
"cds_start": 619,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952550.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001365891.2",
"protein_id": "NP_001352820.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1176,
"cds_start": 619,
"cds_end": null,
"cds_length": 3531,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365891.2"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385365.1",
"protein_id": "NP_001372294.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1167,
"cds_start": 619,
"cds_end": null,
"cds_length": 3504,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385365.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000860255.1",
"protein_id": "ENSP00000530314.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1132,
"cds_start": 619,
"cds_end": null,
"cds_length": 3399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860255.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385366.1",
"protein_id": "NP_001372295.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1123,
"cds_start": 619,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385366.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000860256.1",
"protein_id": "ENSP00000530315.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1123,
"cds_start": 619,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860256.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385367.1",
"protein_id": "NP_001372296.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1113,
"cds_start": 619,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385367.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000369282.5",
"protein_id": "ENSP00000358288.1",
"transcript_support_level": 5,
"aa_start": 207,
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"aa_length": 1113,
"cds_start": 619,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369282.5"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385368.1",
"protein_id": "NP_001372297.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1104,
"cds_start": 619,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385368.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
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"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385369.1",
"protein_id": "NP_001372298.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1104,
"cds_start": 619,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385369.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000369280.1",
"protein_id": "ENSP00000358286.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 1104,
"cds_start": 619,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000369280.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "ENST00000952551.1",
"protein_id": "ENSP00000622610.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1104,
"cds_start": 619,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952551.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385372.1",
"protein_id": "NP_001372301.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1091,
"cds_start": 619,
"cds_end": null,
"cds_length": 3276,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385372.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385370.1",
"protein_id": "NP_001372299.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1066,
"cds_start": 619,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385370.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "NM_001385371.1",
"protein_id": "NP_001372300.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1056,
"cds_start": 619,
"cds_end": null,
"cds_length": 3171,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001385371.1"
},
{
"aa_ref": "R",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TDRD1",
"gene_hgnc_id": 11712,
"hgvs_c": "c.619A>G",
"hgvs_p": "p.Arg207Gly",
"transcript": "XM_011539959.3",
"protein_id": "XP_011538261.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 1189,
"cds_start": 619,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
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{
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"clinvar_classification": "Uncertain significance",
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"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}