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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: 2-75493327-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=75493327&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 75493327,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_032181.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001135032.2",
"protein_id": "NP_001128504.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393913.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001135032.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000393913.8",
"protein_id": "ENSP00000377490.3",
"transcript_support_level": 1,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001135032.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393913.8"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142Gln",
"transcript": "ENST00000910300.1",
"protein_id": "ENSP00000580359.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 171,
"cds_start": 425,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910300.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.425G>A",
"hgvs_p": "p.Arg142Gln",
"transcript": "ENST00000910305.1",
"protein_id": "ENSP00000580364.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 171,
"cds_start": 425,
"cds_end": null,
"cds_length": 516,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910305.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001369524.1",
"protein_id": "NP_001356453.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369524.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_001369525.1",
"protein_id": "NP_001356454.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001369525.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "NM_032181.3",
"protein_id": "NP_115557.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_032181.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000233712.5",
"protein_id": "ENSP00000233712.1",
"transcript_support_level": 2,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000233712.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000410071.5",
"protein_id": "ENSP00000386930.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410071.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000410113.5",
"protein_id": "ENSP00000386435.1",
"transcript_support_level": 3,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000410113.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910257.1",
"protein_id": "ENSP00000580316.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910257.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910258.1",
"protein_id": "ENSP00000580317.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910258.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910259.1",
"protein_id": "ENSP00000580318.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910259.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910260.1",
"protein_id": "ENSP00000580319.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910260.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910261.1",
"protein_id": "ENSP00000580320.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910261.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910262.1",
"protein_id": "ENSP00000580321.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910262.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910263.1",
"protein_id": "ENSP00000580322.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910263.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910264.1",
"protein_id": "ENSP00000580323.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910264.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910265.1",
"protein_id": "ENSP00000580324.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910265.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910266.1",
"protein_id": "ENSP00000580325.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910266.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910267.1",
"protein_id": "ENSP00000580326.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910267.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln",
"transcript": "ENST00000910268.1",
"protein_id": "ENSP00000580327.1",
"transcript_support_level": null,
"aa_start": 123,
"aa_end": null,
"aa_length": 152,
"cds_start": 368,
"cds_end": null,
"cds_length": 459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910268.1"
},
{
"aa_ref": "R",
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"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"hgvs_c": "c.*65G>A",
"hgvs_p": null,
"transcript": "ENST00000452003.1",
"protein_id": "ENSP00000388105.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 100,
"cds_start": null,
"cds_end": null,
"cds_length": 303,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452003.1"
}
],
"gene_symbol": "EVA1A",
"gene_hgnc_id": 25816,
"dbsnp": "rs370520675",
"frequency_reference_population": 0.0000136815,
"hom_count_reference_population": 0,
"allele_count_reference_population": 20,
"gnomad_exomes_af": 0.0000136815,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 20,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.576988160610199,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.328,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.4582,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.09,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_032181.3",
"gene_symbol": "EVA1A",
"hgnc_id": 25816,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.368G>A",
"hgvs_p": "p.Arg123Gln"
}
],
"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
}