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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: 9-112459486-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=112459486&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 112459486,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_032303.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "R",
"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.1053C>A",
"hgvs_p": "p.Ser351Arg",
"transcript": "NM_032303.5",
"protein_id": "NP_115679.2",
"transcript_support_level": null,
"aa_start": 351,
"aa_end": null,
"aa_length": 418,
"cds_start": 1053,
"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": "S",
"aa_alt": "R",
"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.1053C>A",
"hgvs_p": "p.Ser351Arg",
"transcript": "ENST00000398805.8",
"protein_id": "ENSP00000381785.3",
"transcript_support_level": 1,
"aa_start": 351,
"aa_end": null,
"aa_length": 418,
"cds_start": 1053,
"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": "S",
"aa_alt": "R",
"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.834C>A",
"hgvs_p": "p.Ser278Arg",
"transcript": "ENST00000398803.1",
"protein_id": "ENSP00000381783.1",
"transcript_support_level": 1,
"aa_start": 278,
"aa_end": null,
"aa_length": 345,
"cds_start": 834,
"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": "S",
"aa_alt": "R",
"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.1047C>A",
"hgvs_p": "p.Ser349Arg",
"transcript": "ENST00000942135.1",
"protein_id": "ENSP00000612194.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 416,
"cds_start": 1047,
"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": "S",
"aa_alt": "R",
"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.1047C>A",
"hgvs_p": "p.Ser349Arg",
"transcript": "ENST00000942137.1",
"protein_id": "ENSP00000612196.1",
"transcript_support_level": null,
"aa_start": 349,
"aa_end": null,
"aa_length": 416,
"cds_start": 1047,
"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": "S",
"aa_alt": "R",
"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.1044C>A",
"hgvs_p": "p.Ser348Arg",
"transcript": "ENST00000860570.1",
"protein_id": "ENSP00000530629.1",
"transcript_support_level": null,
"aa_start": 348,
"aa_end": null,
"aa_length": 415,
"cds_start": 1044,
"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": "S",
"aa_alt": "R",
"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.975C>A",
"hgvs_p": "p.Ser325Arg",
"transcript": "ENST00000860574.1",
"protein_id": "ENSP00000530633.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 392,
"cds_start": 975,
"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": "S",
"aa_alt": "R",
"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.954C>A",
"hgvs_p": "p.Ser318Arg",
"transcript": "ENST00000860569.1",
"protein_id": "ENSP00000530628.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 385,
"cds_start": 954,
"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": "S",
"aa_alt": "R",
"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.954C>A",
"hgvs_p": "p.Ser318Arg",
"transcript": "ENST00000860575.1",
"protein_id": "ENSP00000530634.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 385,
"cds_start": 954,
"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": "S",
"aa_alt": "R",
"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.903C>A",
"hgvs_p": "p.Ser301Arg",
"transcript": "ENST00000860572.1",
"protein_id": "ENSP00000530631.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 368,
"cds_start": 903,
"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": "S",
"aa_alt": "R",
"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.858C>A",
"hgvs_p": "p.Ser286Arg",
"transcript": "ENST00000860566.1",
"protein_id": "ENSP00000530625.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 353,
"cds_start": 858,
"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": "S",
"aa_alt": "R",
"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.834C>A",
"hgvs_p": "p.Ser278Arg",
"transcript": "NM_001195822.2",
"protein_id": "NP_001182751.1",
"transcript_support_level": null,
"aa_start": 278,
"aa_end": null,
"aa_length": 345,
"cds_start": 834,
"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": "S",
"aa_alt": "R",
"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.828C>A",
"hgvs_p": "p.Ser276Arg",
"transcript": "ENST00000942134.1",
"protein_id": "ENSP00000612193.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 343,
"cds_start": 828,
"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": "S",
"aa_alt": "R",
"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.786C>A",
"hgvs_p": "p.Ser262Arg",
"transcript": "ENST00000860568.1",
"protein_id": "ENSP00000530627.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 329,
"cds_start": 786,
"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": "S",
"aa_alt": "R",
"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.735C>A",
"hgvs_p": "p.Ser245Arg",
"transcript": "ENST00000860567.1",
"protein_id": "ENSP00000530626.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 312,
"cds_start": 735,
"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": "S",
"aa_alt": "R",
"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.735C>A",
"hgvs_p": "p.Ser245Arg",
"transcript": "ENST00000942136.1",
"protein_id": "ENSP00000612195.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 312,
"cds_start": 735,
"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": "S",
"aa_alt": "R",
"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.732C>A",
"hgvs_p": "p.Ser244Arg",
"transcript": "ENST00000942140.1",
"protein_id": "ENSP00000612199.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 311,
"cds_start": 732,
"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": "S",
"aa_alt": "R",
"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.675C>A",
"hgvs_p": "p.Ser225Arg",
"transcript": "ENST00000860565.1",
"protein_id": "ENSP00000530624.1",
"transcript_support_level": null,
"aa_start": 225,
"aa_end": null,
"aa_length": 292,
"cds_start": 675,
"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": "S",
"aa_alt": "R",
"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.639C>A",
"hgvs_p": "p.Ser213Arg",
"transcript": "ENST00000929491.1",
"protein_id": "ENSP00000599550.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 280,
"cds_start": 639,
"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": "S",
"aa_alt": "R",
"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.636C>A",
"hgvs_p": "p.Ser212Arg",
"transcript": "ENST00000860573.1",
"protein_id": "ENSP00000530632.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 279,
"cds_start": 636,
"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": "S",
"aa_alt": "R",
"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.540C>A",
"hgvs_p": "p.Ser180Arg",
"transcript": "ENST00000860571.1",
"protein_id": "ENSP00000530630.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 247,
"cds_start": 540,
"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": "S",
"aa_alt": "R",
"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.468C>A",
"hgvs_p": "p.Ser156Arg",
"transcript": "ENST00000942138.1",
"protein_id": "ENSP00000612197.1",
"transcript_support_level": null,
"aa_start": 156,
"aa_end": null,
"aa_length": 223,
"cds_start": 468,
"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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"phenotype_combined": "not specified",
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],
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}