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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: 9-112459533-T-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=112459533&ref=T&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 112459533,
"ref": "T",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_032303.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.1100T>G",
"hgvs_p": "p.Val367Gly",
"transcript": "NM_032303.5",
"protein_id": "NP_115679.2",
"transcript_support_level": null,
"aa_start": 367,
"aa_end": null,
"aa_length": 418,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000398805.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032303.5"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.1100T>G",
"hgvs_p": "p.Val367Gly",
"transcript": "ENST00000398805.8",
"protein_id": "ENSP00000381785.3",
"transcript_support_level": 1,
"aa_start": 367,
"aa_end": null,
"aa_length": 418,
"cds_start": 1100,
"cds_end": null,
"cds_length": 1257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_032303.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398805.8"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.881T>G",
"hgvs_p": "p.Val294Gly",
"transcript": "ENST00000398803.1",
"protein_id": "ENSP00000381783.1",
"transcript_support_level": 1,
"aa_start": 294,
"aa_end": null,
"aa_length": 345,
"cds_start": 881,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000398803.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.1094T>G",
"hgvs_p": "p.Val365Gly",
"transcript": "ENST00000942135.1",
"protein_id": "ENSP00000612194.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 416,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942135.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.1094T>G",
"hgvs_p": "p.Val365Gly",
"transcript": "ENST00000942137.1",
"protein_id": "ENSP00000612196.1",
"transcript_support_level": null,
"aa_start": 365,
"aa_end": null,
"aa_length": 416,
"cds_start": 1094,
"cds_end": null,
"cds_length": 1251,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942137.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.1091T>G",
"hgvs_p": "p.Val364Gly",
"transcript": "ENST00000860570.1",
"protein_id": "ENSP00000530629.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 415,
"cds_start": 1091,
"cds_end": null,
"cds_length": 1248,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860570.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.1022T>G",
"hgvs_p": "p.Val341Gly",
"transcript": "ENST00000860574.1",
"protein_id": "ENSP00000530633.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 392,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860574.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Val334Gly",
"transcript": "ENST00000860569.1",
"protein_id": "ENSP00000530628.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 385,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860569.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.1001T>G",
"hgvs_p": "p.Val334Gly",
"transcript": "ENST00000860575.1",
"protein_id": "ENSP00000530634.1",
"transcript_support_level": null,
"aa_start": 334,
"aa_end": null,
"aa_length": 385,
"cds_start": 1001,
"cds_end": null,
"cds_length": 1158,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860575.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.950T>G",
"hgvs_p": "p.Val317Gly",
"transcript": "ENST00000860572.1",
"protein_id": "ENSP00000530631.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 368,
"cds_start": 950,
"cds_end": null,
"cds_length": 1107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860572.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.905T>G",
"hgvs_p": "p.Val302Gly",
"transcript": "ENST00000860566.1",
"protein_id": "ENSP00000530625.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 353,
"cds_start": 905,
"cds_end": null,
"cds_length": 1062,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860566.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.881T>G",
"hgvs_p": "p.Val294Gly",
"transcript": "NM_001195822.2",
"protein_id": "NP_001182751.1",
"transcript_support_level": null,
"aa_start": 294,
"aa_end": null,
"aa_length": 345,
"cds_start": 881,
"cds_end": null,
"cds_length": 1038,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195822.2"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.875T>G",
"hgvs_p": "p.Val292Gly",
"transcript": "ENST00000942134.1",
"protein_id": "ENSP00000612193.1",
"transcript_support_level": null,
"aa_start": 292,
"aa_end": null,
"aa_length": 343,
"cds_start": 875,
"cds_end": null,
"cds_length": 1032,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942134.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.833T>G",
"hgvs_p": "p.Val278Gly",
"transcript": "ENST00000860568.1",
"protein_id": "ENSP00000530627.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 329,
"cds_start": 833,
"cds_end": null,
"cds_length": 990,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860568.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.782T>G",
"hgvs_p": "p.Val261Gly",
"transcript": "ENST00000860567.1",
"protein_id": "ENSP00000530626.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 312,
"cds_start": 782,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860567.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.782T>G",
"hgvs_p": "p.Val261Gly",
"transcript": "ENST00000942136.1",
"protein_id": "ENSP00000612195.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 312,
"cds_start": 782,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942136.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.779T>G",
"hgvs_p": "p.Val260Gly",
"transcript": "ENST00000942140.1",
"protein_id": "ENSP00000612199.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 311,
"cds_start": 779,
"cds_end": null,
"cds_length": 936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942140.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.722T>G",
"hgvs_p": "p.Val241Gly",
"transcript": "ENST00000860565.1",
"protein_id": "ENSP00000530624.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 292,
"cds_start": 722,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860565.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.686T>G",
"hgvs_p": "p.Val229Gly",
"transcript": "ENST00000929491.1",
"protein_id": "ENSP00000599550.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 280,
"cds_start": 686,
"cds_end": null,
"cds_length": 843,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929491.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.683T>G",
"hgvs_p": "p.Val228Gly",
"transcript": "ENST00000860573.1",
"protein_id": "ENSP00000530632.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 279,
"cds_start": 683,
"cds_end": null,
"cds_length": 840,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860573.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.587T>G",
"hgvs_p": "p.Val196Gly",
"transcript": "ENST00000860571.1",
"protein_id": "ENSP00000530630.1",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 247,
"cds_start": 587,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860571.1"
},
{
"aa_ref": "V",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSDL2",
"gene_hgnc_id": 18572,
"hgvs_c": "c.515T>G",
"hgvs_p": "p.Val172Gly",
"transcript": "ENST00000942138.1",
"protein_id": "ENSP00000612197.1",
"transcript_support_level": null,
"aa_start": 172,
"aa_end": null,
"aa_length": 223,
"cds_start": 515,
"cds_end": null,
"cds_length": 672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942138.1"
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{
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],
"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
}