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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: 6-169773331-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=169773331&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 169773331,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000366773.8",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "NM_018341.3",
"protein_id": "NP_060811.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 678,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "ENST00000366773.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "ENST00000366773.8",
"protein_id": "ENSP00000355735.3",
"transcript_support_level": 2,
"aa_start": 416,
"aa_end": null,
"aa_length": 678,
"cds_start": 1246,
"cds_end": null,
"cds_length": 2037,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2160,
"mane_select": "NM_018341.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "ENST00000418781.7",
"protein_id": "ENSP00000397661.2",
"transcript_support_level": 1,
"aa_start": 416,
"aa_end": null,
"aa_length": 605,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1266,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "NM_001278531.2",
"protein_id": "NP_001265460.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 631,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2019,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "ENST00000366772.6",
"protein_id": "ENSP00000355734.1",
"transcript_support_level": 5,
"aa_start": 416,
"aa_end": null,
"aa_length": 631,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1896,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 2003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "NM_001278533.2",
"protein_id": "NP_001265462.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 605,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1818,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1941,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Val290Ile",
"transcript": "NM_001278532.2",
"protein_id": "NP_001265461.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 552,
"cds_start": 868,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1991,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Val290Ile",
"transcript": "ENST00000392095.8",
"protein_id": "ENSP00000375945.4",
"transcript_support_level": 2,
"aa_start": 290,
"aa_end": null,
"aa_length": 552,
"cds_start": 868,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1110,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Val280Ile",
"transcript": "NM_001410957.1",
"protein_id": "NP_001397886.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 542,
"cds_start": 838,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1083,
"cdna_end": null,
"cdna_length": 1961,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.838G>A",
"hgvs_p": "p.Val280Ile",
"transcript": "ENST00000588451.1",
"protein_id": "ENSP00000468240.1",
"transcript_support_level": 5,
"aa_start": 280,
"aa_end": null,
"aa_length": 542,
"cds_start": 838,
"cds_end": null,
"cds_length": 1629,
"cdna_start": 1351,
"cdna_end": null,
"cdna_length": 2146,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Val406Ile",
"transcript": "XM_011535938.4",
"protein_id": "XP_011534240.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 668,
"cds_start": 1216,
"cds_end": null,
"cds_length": 2007,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 2130,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1216G>A",
"hgvs_p": "p.Val406Ile",
"transcript": "XM_047419018.1",
"protein_id": "XP_047274974.1",
"transcript_support_level": null,
"aa_start": 406,
"aa_end": null,
"aa_length": 595,
"cds_start": 1216,
"cds_end": null,
"cds_length": 1788,
"cdna_start": 1252,
"cdna_end": null,
"cdna_length": 1911,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "XM_047419019.1",
"protein_id": "XP_047274975.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 588,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1767,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1885,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Val303Ile",
"transcript": "XM_017011030.2",
"protein_id": "XP_016866519.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 565,
"cds_start": 907,
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"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.907G>A",
"hgvs_p": "p.Val303Ile",
"transcript": "XM_017011031.2",
"protein_id": "XP_016866520.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 565,
"cds_start": 907,
"cds_end": null,
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"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 1974,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Val290Ile",
"transcript": "XM_011535940.3",
"protein_id": "XP_011534242.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 552,
"cds_start": 868,
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"cdna_start": 2478,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Val290Ile",
"transcript": "XM_047419020.1",
"protein_id": "XP_047274976.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 552,
"cds_start": 868,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1498,
"cdna_end": null,
"cdna_length": 2376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Val290Ile",
"transcript": "XM_047419021.1",
"protein_id": "XP_047274977.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 552,
"cds_start": 868,
"cds_end": null,
"cds_length": 1659,
"cdna_start": 1556,
"cdna_end": null,
"cdna_length": 2434,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Val290Ile",
"transcript": "XM_047419023.1",
"protein_id": "XP_047274979.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 479,
"cds_start": 868,
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"cdna_end": null,
"cdna_length": 1772,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile",
"transcript": "XM_047419024.1",
"protein_id": "XP_047274980.1",
"transcript_support_level": null,
"aa_start": 416,
"aa_end": null,
"aa_length": 442,
"cds_start": 1246,
"cds_end": null,
"cds_length": 1329,
"cdna_start": 1282,
"cdna_end": null,
"cdna_length": 1397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "c.868G>A",
"hgvs_p": "p.Val290Ile",
"transcript": "XM_047419025.1",
"protein_id": "XP_047274981.1",
"transcript_support_level": null,
"aa_start": 290,
"aa_end": null,
"aa_length": 407,
"cds_start": 868,
"cds_end": null,
"cds_length": 1224,
"cdna_start": 1113,
"cdna_end": null,
"cdna_length": 1502,
"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": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "n.1344G>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": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"hgvs_c": "n.288G>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
}
],
"gene_symbol": "ERMARD",
"gene_hgnc_id": 21056,
"dbsnp": "rs143351214",
"frequency_reference_population": 0.0014677637,
"hom_count_reference_population": 3,
"allele_count_reference_population": 2369,
"gnomad_exomes_af": 0.00147567,
"gnomad_genomes_af": 0.00139192,
"gnomad_exomes_ac": 2157,
"gnomad_genomes_ac": 212,
"gnomad_exomes_homalt": 3,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0057035088539123535,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.18000000715255737,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.014,
"revel_prediction": "Benign",
"alphamissense_score": 0.0845,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.71,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.551,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.18,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6,BS2",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 9,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000366773.8",
"gene_symbol": "ERMARD",
"hgnc_id": 21056,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.1246G>A",
"hgvs_p": "p.Val416Ile"
}
],
"clinvar_disease": "not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2 B:1",
"phenotype_combined": "not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}