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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: 6-169776629-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169776629&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169776629,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000366773.8",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Thr565Thr",
"transcript": "NM_018341.3",
"protein_id": "NP_060811.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 678,
"cds_start": 1695,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "ENST00000366773.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Thr565Thr",
"transcript": "ENST00000366773.8",
"protein_id": "ENSP00000355735.3",
"transcript_support_level": 2,
"aa_start": 565,
"aa_end": null,
"aa_length": 678,
"cds_start": 1695,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "NM_018341.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1520+564G>A",
"hgvs_p": null,
"transcript": "ENST00000418781.7",
"protein_id": "ENSP00000397661.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Thr439Thr",
"transcript": "NM_001278532.2",
"protein_id": "NP_001265461.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 552,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1562,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Thr439Thr",
"transcript": "ENST00000392095.8",
"protein_id": "ENSP00000375945.4",
"transcript_support_level": 2,
"aa_start": 439,
"aa_end": null,
"aa_length": 552,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1559,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Thr429Thr",
"transcript": "NM_001410957.1",
"protein_id": "NP_001397886.1",
"transcript_support_level": null,
"aa_start": 429,
"aa_end": null,
"aa_length": 542,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1287G>A",
"hgvs_p": "p.Thr429Thr",
"transcript": "ENST00000588451.1",
"protein_id": "ENSP00000468240.1",
"transcript_support_level": 5,
"aa_start": 429,
"aa_end": null,
"aa_length": 542,
"cds_start": 1287,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1800,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1665G>A",
"hgvs_p": "p.Thr555Thr",
"transcript": "XM_011535938.4",
"protein_id": "XP_011534240.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 668,
"cds_start": 1665,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1701,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Thr565Thr",
"transcript": "XM_047419019.1",
"protein_id": "XP_047274975.1",
"transcript_support_level": null,
"aa_start": 565,
"aa_end": null,
"aa_length": 588,
"cds_start": 1695,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1731,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Thr452Thr",
"transcript": "XM_017011030.2",
"protein_id": "XP_016866519.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 565,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1503,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1356G>A",
"hgvs_p": "p.Thr452Thr",
"transcript": "XM_017011031.2",
"protein_id": "XP_016866520.1",
"transcript_support_level": null,
"aa_start": 452,
"aa_end": null,
"aa_length": 565,
"cds_start": 1356,
"cds_end": null,
"cds_length": 1698,
"cdna_start": 1545,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Thr439Thr",
"transcript": "XM_011535940.3",
"protein_id": "XP_011534242.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 552,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 2927,
"cdna_end": null,
"cdna_length": 3356,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Thr439Thr",
"transcript": "XM_047419020.1",
"protein_id": "XP_047274976.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 552,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1947,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1317G>A",
"hgvs_p": "p.Thr439Thr",
"transcript": "XM_047419021.1",
"protein_id": "XP_047274977.1",
"transcript_support_level": null,
"aa_start": 439,
"aa_end": null,
"aa_length": 552,
"cds_start": 1317,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 2005,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "n.1793G>A",
"hgvs_p": null,
"transcript": "ENST00000366771.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "n.363G>A",
"hgvs_p": null,
"transcript": "ENST00000477995.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 708,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1598+218G>A",
"hgvs_p": null,
"transcript": "NM_001278531.2",
"protein_id": "NP_001265460.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": 16,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1598+218G>A",
"hgvs_p": null,
"transcript": "ENST00000366772.6",
"protein_id": "ENSP00000355734.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 631,
"cds_start": -4,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 15,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1520+564G>A",
"hgvs_p": null,
"transcript": "NM_001278533.2",
"protein_id": "NP_001265462.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 605,
"cds_start": -4,
"cds_end": null,
"cds_length": 1818,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1490+564G>A",
"hgvs_p": null,
"transcript": "XM_047419018.1",
"protein_id": "XP_047274974.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 595,
"cds_start": -4,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 14,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1142+564G>A",
"hgvs_p": null,
"transcript": "XM_047419023.1",
"protein_id": "XP_047274979.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 479,
"cds_start": -4,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "n.*79G>A",
"hgvs_p": null,
"transcript": "ENST00000492738.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 658,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.*214G>A",
"hgvs_p": null,
"transcript": "XM_047419025.1",
"protein_id": "XP_047274981.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 407,
"cds_start": -4,
"cds_end": null,
"cds_length": 1224,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1502,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"dbsnp": "rs144899015",
"frequency_reference_population": 0.00047639993,
"hom_count_reference_population": 9,
"allele_count_reference_population": 769,
"gnomad_exomes_af": 0.000264054,
"gnomad_genomes_af": 0.00251362,
"gnomad_exomes_ac": 386,
"gnomad_genomes_ac": 383,
"gnomad_exomes_homalt": 7,
"gnomad_genomes_homalt": 2,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7699999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.77,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -1.184,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000366773.8",
"gene_symbol": "ERMARD",
"hgnc_id": 21056,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1695G>A",
"hgvs_p": "p.Thr565Thr"
}
],
"clinvar_disease": "ERMARD-related disorder,not provided,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:1",
"phenotype_combined": "not specified|not provided|ERMARD-related disorder",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}