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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: 3-49357605-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49357605&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49357605,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000581.4",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.395C>T",
"hgvs_p": "p.Ala132Val",
"transcript": "NM_000581.4",
"protein_id": "NP_000572.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 203,
"cds_start": 395,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000419783.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000581.4"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.395C>T",
"hgvs_p": "p.Ala132Val",
"transcript": "ENST00000419783.3",
"protein_id": "ENSP00000407375.1",
"transcript_support_level": 1,
"aa_start": 132,
"aa_end": null,
"aa_length": 203,
"cds_start": 395,
"cds_end": null,
"cds_length": 612,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000581.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419783.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290318",
"gene_hgnc_id": null,
"hgvs_c": "c.*115C>T",
"hgvs_p": null,
"transcript": "ENST00000704381.1",
"protein_id": "ENSP00000515884.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 163,
"cds_start": null,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704381.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.392C>T",
"hgvs_p": "p.Ala131Val",
"transcript": "ENST00000703795.1",
"protein_id": "ENSP00000515480.1",
"transcript_support_level": null,
"aa_start": 131,
"aa_end": null,
"aa_length": 202,
"cds_start": 392,
"cds_end": null,
"cds_length": 609,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703795.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.356C>T",
"hgvs_p": "p.Ala119Val",
"transcript": "ENST00000703796.1",
"protein_id": "ENSP00000515481.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 190,
"cds_start": 356,
"cds_end": null,
"cds_length": 573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703796.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "NM_001329455.2",
"protein_id": "NP_001316384.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 157,
"cds_start": 257,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329455.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.257C>T",
"hgvs_p": "p.Ala86Val",
"transcript": "ENST00000643797.2",
"protein_id": "ENSP00000495108.1",
"transcript_support_level": null,
"aa_start": 86,
"aa_end": null,
"aa_length": 157,
"cds_start": 257,
"cds_end": null,
"cds_length": 474,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000643797.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.230C>T",
"hgvs_p": "p.Ala77Val",
"transcript": "ENST00000704374.1",
"protein_id": "ENSP00000515879.1",
"transcript_support_level": null,
"aa_start": 77,
"aa_end": null,
"aa_length": 148,
"cds_start": 230,
"cds_end": null,
"cds_length": 447,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704374.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.414C>T",
"hgvs_p": "p.Gly138Gly",
"transcript": "NM_001329503.2",
"protein_id": "NP_001316432.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 170,
"cds_start": 414,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329503.2"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.414C>T",
"hgvs_p": "p.Gly138Gly",
"transcript": "ENST00000646881.3",
"protein_id": "ENSP00000495001.2",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 170,
"cds_start": 414,
"cds_end": null,
"cds_length": 513,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646881.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.*221C>T",
"hgvs_p": null,
"transcript": "NM_001329502.2",
"protein_id": "NP_001316431.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001329502.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.*221C>T",
"hgvs_p": null,
"transcript": "ENST00000496791.3",
"protein_id": "ENSP00000493593.2",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 104,
"cds_start": null,
"cds_end": null,
"cds_length": 315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000496791.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.*377C>T",
"hgvs_p": null,
"transcript": "NM_201397.3",
"protein_id": "NP_958799.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_201397.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.*377C>T",
"hgvs_p": null,
"transcript": "ENST00000419349.3",
"protein_id": "ENSP00000391316.1",
"transcript_support_level": 6,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419349.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.*169C>T",
"hgvs_p": null,
"transcript": "ENST00000704375.1",
"protein_id": "ENSP00000515880.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 98,
"cds_start": null,
"cds_end": null,
"cds_length": 297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704375.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.348+47C>T",
"hgvs_p": null,
"transcript": "ENST00000704378.1",
"protein_id": "ENSP00000515883.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 124,
"cds_start": null,
"cds_end": null,
"cds_length": 375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704378.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.290+105C>T",
"hgvs_p": null,
"transcript": "ENST00000704356.1",
"protein_id": "ENSP00000515867.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 122,
"cds_start": null,
"cds_end": null,
"cds_length": 369,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704356.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.149-158C>T",
"hgvs_p": null,
"transcript": "ENST00000704376.1",
"protein_id": "ENSP00000515881.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 51,
"cds_start": null,
"cds_end": null,
"cds_length": 156,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704376.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "c.115-139C>T",
"hgvs_p": null,
"transcript": "ENST00000704377.1",
"protein_id": "ENSP00000515882.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 46,
"cds_start": null,
"cds_end": null,
"cds_length": 141,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000704377.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000703797.1",
"protein_id": "ENSP00000515482.1",
"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": "ENST00000703797.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290318",
"gene_hgnc_id": null,
"hgvs_c": "n.268C>T",
"hgvs_p": null,
"transcript": "ENST00000704379.1",
"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": "ENST00000704379.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290318",
"gene_hgnc_id": null,
"hgvs_c": "n.228C>T",
"hgvs_p": null,
"transcript": "ENST00000704380.1",
"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": "ENST00000704380.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"hgvs_c": "n.*288C>T",
"hgvs_p": null,
"transcript": "ENST00000703797.1",
"protein_id": "ENSP00000515482.1",
"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": "ENST00000703797.1"
}
],
"gene_symbol": "GPX1",
"gene_hgnc_id": 4553,
"dbsnp": "rs201091540",
"frequency_reference_population": 0.00022131053,
"hom_count_reference_population": 0,
"allele_count_reference_population": 357,
"gnomad_exomes_af": 0.000225194,
"gnomad_genomes_af": 0.000184022,
"gnomad_exomes_ac": 329,
"gnomad_genomes_ac": 28,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.08258697390556335,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.056,
"revel_prediction": "Benign",
"alphamissense_score": 0.124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.53,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_000581.4",
"gene_symbol": "GPX1",
"hgnc_id": 4553,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.395C>T",
"hgvs_p": "p.Ala132Val"
},
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000704381.1",
"gene_symbol": "ENSG00000290318",
"hgnc_id": null,
"effects": [
"3_prime_UTR_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.*115C>T",
"hgvs_p": null
}
],
"clinvar_disease": "Gluthathione peroxidase deficiency,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Gluthathione peroxidase deficiency|not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}