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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: 16-5033832-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=5033832&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 5033832,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_016256.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "NM_016256.4",
"protein_id": "NP_057340.2",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 515,
"cds_start": 83,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312251.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016256.4"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000312251.8",
"protein_id": "ENSP00000310998.3",
"transcript_support_level": 1,
"aa_start": 28,
"aa_end": null,
"aa_length": 515,
"cds_start": 83,
"cds_end": null,
"cds_length": 1548,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016256.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312251.8"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000948540.1",
"protein_id": "ENSP00000618599.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 549,
"cds_start": 83,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948540.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000948538.1",
"protein_id": "ENSP00000618597.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 495,
"cds_start": 83,
"cds_end": null,
"cds_length": 1488,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948538.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000866188.1",
"protein_id": "ENSP00000536247.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 487,
"cds_start": 83,
"cds_end": null,
"cds_length": 1464,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866188.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000381955.7",
"protein_id": "ENSP00000371381.3",
"transcript_support_level": 5,
"aa_start": 28,
"aa_end": null,
"aa_length": 481,
"cds_start": 83,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381955.7"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000933627.1",
"protein_id": "ENSP00000603686.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 472,
"cds_start": 83,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933627.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000933628.1",
"protein_id": "ENSP00000603687.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 471,
"cds_start": 83,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933628.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000948541.1",
"protein_id": "ENSP00000618600.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 456,
"cds_start": 83,
"cds_end": null,
"cds_length": 1371,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948541.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000866189.1",
"protein_id": "ENSP00000536248.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 438,
"cds_start": 83,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866189.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000866191.1",
"protein_id": "ENSP00000536250.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 432,
"cds_start": 83,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866191.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000948537.1",
"protein_id": "ENSP00000618596.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 389,
"cds_start": 83,
"cds_end": null,
"cds_length": 1170,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948537.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000866190.1",
"protein_id": "ENSP00000536249.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 370,
"cds_start": 83,
"cds_end": null,
"cds_length": 1113,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000866190.1"
},
{
"aa_ref": "S",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "c.83C>G",
"hgvs_p": "p.Ser28Trp",
"transcript": "ENST00000948539.1",
"protein_id": "ENSP00000618598.1",
"transcript_support_level": null,
"aa_start": 28,
"aa_end": null,
"aa_length": 361,
"cds_start": 83,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948539.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "n.108C>G",
"hgvs_p": null,
"transcript": "ENST00000561580.5",
"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": "retained_intron",
"feature": "ENST00000561580.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "n.83C>G",
"hgvs_p": null,
"transcript": "ENST00000562746.5",
"protein_id": "ENSP00000455900.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000562746.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "n.95C>G",
"hgvs_p": null,
"transcript": "ENST00000568202.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "retained_intron",
"feature": "ENST00000568202.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ALG1",
"gene_hgnc_id": 18294,
"hgvs_c": "n.131G>C",
"hgvs_p": null,
"transcript": "ENST00000632058.1",
"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": "retained_intron",
"feature": "ENST00000632058.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "n.83C>G",
"hgvs_p": null,
"transcript": "ENST00000649828.1",
"protein_id": "ENSP00000498032.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000649828.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NAGPA-AS1",
"gene_hgnc_id": 44184,
"hgvs_c": "n.131G>C",
"hgvs_p": null,
"transcript": "NR_038913.1",
"protein_id": null,
"transcript_support_level": null,
"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": "NR_038913.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "NAGPA",
"gene_hgnc_id": 17378,
"hgvs_c": "n.144-104C>G",
"hgvs_p": null,
"transcript": "ENST00000564922.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000564922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267072",
"gene_hgnc_id": null,
"hgvs_c": "n.366-8263G>C",
"hgvs_p": null,
"transcript": "ENST00000588778.1",
"protein_id": null,
"transcript_support_level": 3,
"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": "ENST00000588778.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
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{
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],
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}
],
"message": null
}