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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: 16-30985801-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=30985801&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 30985801,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_025193.4",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "NM_025193.4",
"protein_id": "NP_079469.2",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": "ENST00000297679.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025193.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000297679.10",
"protein_id": "ENSP00000297679.5",
"transcript_support_level": 1,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2171,
"mane_select": "NM_025193.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000297679.10"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867909.1",
"protein_id": "ENSP00000537968.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 410,
"cds_start": 143,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 239,
"cdna_end": null,
"cdna_length": 2298,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867909.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867910.1",
"protein_id": "ENSP00000537969.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 410,
"cds_start": 143,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 240,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867910.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000930187.1",
"protein_id": "ENSP00000600246.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 410,
"cds_start": 143,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2449,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000930187.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000949919.1",
"protein_id": "ENSP00000619978.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 410,
"cds_start": 143,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 2646,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949919.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867900.1",
"protein_id": "ENSP00000537959.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 473,
"cdna_end": null,
"cdna_length": 2411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867900.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867901.1",
"protein_id": "ENSP00000537960.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 272,
"cdna_end": null,
"cdna_length": 2208,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867901.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867903.1",
"protein_id": "ENSP00000537962.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 463,
"cdna_end": null,
"cdna_length": 2399,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867903.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867905.1",
"protein_id": "ENSP00000537964.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 615,
"cdna_end": null,
"cdna_length": 2550,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867905.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867906.1",
"protein_id": "ENSP00000537965.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 2284,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867906.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867908.1",
"protein_id": "ENSP00000537967.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2200,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867908.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000949918.1",
"protein_id": "ENSP00000619977.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 320,
"cdna_end": null,
"cdna_length": 2250,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949918.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000949921.1",
"protein_id": "ENSP00000619980.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 369,
"cds_start": 143,
"cds_end": null,
"cds_length": 1110,
"cdna_start": 383,
"cdna_end": null,
"cdna_length": 2317,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949921.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867907.1",
"protein_id": "ENSP00000537966.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 338,
"cds_start": 143,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 263,
"cdna_end": null,
"cdna_length": 2100,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867907.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867912.1",
"protein_id": "ENSP00000537971.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 338,
"cds_start": 143,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 398,
"cdna_end": null,
"cdna_length": 2235,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867912.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000949920.1",
"protein_id": "ENSP00000619979.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 338,
"cds_start": 143,
"cds_end": null,
"cds_length": 1017,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 2062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949920.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867902.1",
"protein_id": "ENSP00000537961.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 317,
"cds_start": 143,
"cds_end": null,
"cds_length": 954,
"cdna_start": 266,
"cdna_end": null,
"cdna_length": 2048,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867902.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867904.1",
"protein_id": "ENSP00000537963.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 317,
"cds_start": 143,
"cds_end": null,
"cds_length": 954,
"cdna_start": 260,
"cdna_end": null,
"cdna_length": 2040,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867904.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867911.1",
"protein_id": "ENSP00000537970.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 317,
"cds_start": 143,
"cds_end": null,
"cds_length": 954,
"cdna_start": 403,
"cdna_end": null,
"cdna_length": 2179,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867911.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867913.1",
"protein_id": "ENSP00000537972.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 317,
"cds_start": 143,
"cds_end": null,
"cds_length": 954,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 2010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867913.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"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": "HSD3B7",
"gene_hgnc_id": 18324,
"hgvs_c": "c.143C>G",
"hgvs_p": "p.Pro48Arg",
"transcript": "ENST00000867914.1",
"protein_id": "ENSP00000537973.1",
"transcript_support_level": null,
"aa_start": 48,
"aa_end": null,
"aa_length": 317,
"cds_start": 143,
"cds_end": null,
"cds_length": 954,
"cdna_start": 400,
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"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}