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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: 8-109553878-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=109553878&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 109553878,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004215.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "NM_004215.5",
"protein_id": "NP_004206.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000337573.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004215.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000337573.10",
"protein_id": "ENSP00000337675.5",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004215.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000337573.10"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000531677.5",
"protein_id": "ENSP00000432082.1",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 258,
"cds_start": 97,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000531677.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000395785.7",
"protein_id": "ENSP00000379131.2",
"transcript_support_level": 1,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000395785.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "n.97C>T",
"hgvs_p": null,
"transcript": "ENST00000527709.5",
"protein_id": "ENSP00000437214.1",
"transcript_support_level": 1,
"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": "ENST00000527709.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.-195C>T",
"hgvs_p": null,
"transcript": "ENST00000529931.1",
"protein_id": "ENSP00000435687.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529931.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000614147.1",
"protein_id": "ENSP00000477734.1",
"transcript_support_level": 5,
"aa_start": 33,
"aa_end": null,
"aa_length": 258,
"cds_start": 97,
"cds_end": null,
"cds_length": 777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614147.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "NM_001278938.2",
"protein_id": "NP_001265867.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001278938.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "NM_198120.3",
"protein_id": "NP_936056.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_198120.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000620557.4",
"protein_id": "ENSP00000477645.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000620557.4"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000699338.1",
"protein_id": "ENSP00000514313.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000699338.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000903040.1",
"protein_id": "ENSP00000573099.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903040.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000903041.1",
"protein_id": "ENSP00000573100.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903041.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000903042.1",
"protein_id": "ENSP00000573101.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903042.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000933076.1",
"protein_id": "ENSP00000603135.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933076.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000933077.1",
"protein_id": "ENSP00000603136.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933077.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000933078.1",
"protein_id": "ENSP00000603137.1",
"transcript_support_level": null,
"aa_start": 33,
"aa_end": null,
"aa_length": 213,
"cds_start": 97,
"cds_end": null,
"cds_length": 642,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933078.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000530629.5",
"protein_id": "ENSP00000434878.1",
"transcript_support_level": 3,
"aa_start": 33,
"aa_end": null,
"aa_length": 196,
"cds_start": 97,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000530629.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp",
"transcript": "ENST00000534318.5",
"protein_id": "ENSP00000435689.1",
"transcript_support_level": 2,
"aa_start": 33,
"aa_end": null,
"aa_length": 77,
"cds_start": 97,
"cds_end": null,
"cds_length": 235,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000534318.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "c.-195C>T",
"hgvs_p": null,
"transcript": "ENST00000529931.1",
"protein_id": "ENSP00000435687.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 40,
"cds_start": null,
"cds_end": null,
"cds_length": 123,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000529931.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "n.273C>T",
"hgvs_p": null,
"transcript": "ENST00000529502.5",
"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": "pseudogene",
"feature": "ENST00000529502.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "n.97C>T",
"hgvs_p": null,
"transcript": "ENST00000699339.1",
"protein_id": "ENSP00000514314.1",
"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": "ENST00000699339.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"hgvs_c": "n.46C>T",
"hgvs_p": null,
"transcript": "ENST00000699340.1",
"protein_id": "ENSP00000514315.1",
"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": "ENST00000699340.1"
}
],
"gene_symbol": "EBAG9",
"gene_hgnc_id": 3123,
"dbsnp": "rs199580138",
"frequency_reference_population": 0.000024277253,
"hom_count_reference_population": 0,
"allele_count_reference_population": 39,
"gnomad_exomes_af": 0.0000178765,
"gnomad_genomes_af": 0.0000855151,
"gnomad_exomes_ac": 26,
"gnomad_genomes_ac": 13,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7639076709747314,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.528,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8862,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.36,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 2.839,
"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": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PP3",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004215.5",
"gene_symbol": "EBAG9",
"hgnc_id": 3123,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.97C>T",
"hgvs_p": "p.Arg33Trp"
}
],
"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
}