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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: 12-56101590-TGAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56101590&ref=TGAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56101590,
"ref": "TGAA",
"alt": "T",
"effect": "disruptive_inframe_deletion",
"transcript": "ENST00000267101.8",
"consequences": [
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3573_3575delAGA",
"hgvs_p": "p.Glu1191del",
"transcript": "NM_001982.4",
"protein_id": "NP_001973.2",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3573,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 5615,
"mane_select": "ENST00000267101.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3573_3575delAGA",
"hgvs_p": "p.Glu1191del",
"transcript": "ENST00000267101.8",
"protein_id": "ENSP00000267101.4",
"transcript_support_level": 1,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3573,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3709,
"cdna_end": null,
"cdna_length": 5615,
"mane_select": "NM_001982.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.1494_1496delAGA",
"hgvs_p": "p.Glu498del",
"transcript": "ENST00000550070.6",
"protein_id": "ENSP00000448946.2",
"transcript_support_level": 1,
"aa_start": 498,
"aa_end": null,
"aa_length": 649,
"cds_start": 1494,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1494,
"cdna_end": null,
"cdna_length": 2729,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.*428_*430delAGA",
"hgvs_p": null,
"transcript": "ENST00000551242.5",
"protein_id": "ENSP00000447510.1",
"transcript_support_level": 1,
"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": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.*428_*430delAGA",
"hgvs_p": null,
"transcript": "ENST00000551242.5",
"protein_id": "ENSP00000447510.1",
"transcript_support_level": 1,
"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": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257411",
"gene_hgnc_id": null,
"hgvs_c": "c.31+238_31+240delAGA",
"hgvs_p": null,
"transcript": "ENST00000548861.2",
"protein_id": "ENSP00000449770.3",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 162,
"cds_start": -4,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 489,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3396_3398delAGA",
"hgvs_p": "p.Glu1132del",
"transcript": "ENST00000415288.6",
"protein_id": "ENSP00000408340.2",
"transcript_support_level": 2,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3396,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3616,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3396_3398delAGA",
"hgvs_p": "p.Glu1132del",
"transcript": "ENST00000683018.1",
"protein_id": "ENSP00000506822.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3396,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3530,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3396_3398delAGA",
"hgvs_p": "p.Glu1132del",
"transcript": "ENST00000683059.1",
"protein_id": "ENSP00000507402.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3396,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3552,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3396_3398delAGA",
"hgvs_p": "p.Glu1132del",
"transcript": "ENST00000683164.1",
"protein_id": "ENSP00000508051.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3396,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3727,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.933_935delAGA",
"hgvs_p": "p.Glu311del",
"transcript": "ENST00000549832.1",
"protein_id": "ENSP00000448729.1",
"transcript_support_level": 2,
"aa_start": 311,
"aa_end": null,
"aa_length": 462,
"cds_start": 933,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1389,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3396_3398delAGA",
"hgvs_p": "p.Glu1132del",
"transcript": "XM_047428500.1",
"protein_id": "XP_047284456.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3396,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3560,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "ED",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3396_3398delAGA",
"hgvs_p": "p.Glu1132del",
"transcript": "XM_047428501.1",
"protein_id": "XP_047284457.1",
"transcript_support_level": null,
"aa_start": 1132,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3396,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3726,
"cdna_end": null,
"cdna_length": 5632,
"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": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.*990_*992delAGA",
"hgvs_p": null,
"transcript": "ENST00000551085.5",
"protein_id": "ENSP00000448483.1",
"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": 4382,
"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": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.2030_2032delAGA",
"hgvs_p": null,
"transcript": "ENST00000553131.5",
"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": 3237,
"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": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.5059_5061delAGA",
"hgvs_p": null,
"transcript": "ENST00000682431.1",
"protein_id": null,
"transcript_support_level": null,
"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": 6264,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.1914_1916delAGA",
"hgvs_p": null,
"transcript": "ENST00000682512.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3119,
"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": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.1243_1245delAGA",
"hgvs_p": null,
"transcript": "ENST00000682873.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2446,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.1177_1179delAGA",
"hgvs_p": null,
"transcript": "ENST00000683142.1",
"protein_id": null,
"transcript_support_level": null,
"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": 2382,
"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": 25,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.4306_4308delAGA",
"hgvs_p": null,
"transcript": "ENST00000683653.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5511,
"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": 26,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.4614_4616delAGA",
"hgvs_p": null,
"transcript": "ENST00000684500.1",
"protein_id": null,
"transcript_support_level": null,
"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": 5819,
"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": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.2147_2149delAGA",
"hgvs_p": null,
"transcript": "ENST00000684766.1",
"protein_id": null,
"transcript_support_level": null,
"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": 3382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.*990_*992delAGA",
"hgvs_p": null,
"transcript": "ENST00000551085.5",
"protein_id": "ENSP00000448483.1",
"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": 4382,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"dbsnp": "rs780883720",
"frequency_reference_population": 0.00006815771,
"hom_count_reference_population": 0,
"allele_count_reference_population": 110,
"gnomad_exomes_af": 0.0000643016,
"gnomad_genomes_af": 0.000105234,
"gnomad_exomes_ac": 94,
"gnomad_genomes_ac": 16,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"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": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.82,
"phylop100way_prediction": "Uncertain_significance",
"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": "PM4_Supporting",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 0,
"pathogenic_score": 1,
"criteria": [
"PM4_Supporting"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000267101.8",
"gene_symbol": "ERBB3",
"hgnc_id": 3431,
"effects": [
"disruptive_inframe_deletion"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3573_3575delAGA",
"hgvs_p": "p.Glu1191del"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548861.2",
"gene_symbol": "ENSG00000257411",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.31+238_31+240delAGA",
"hgvs_p": null
}
],
"clinvar_disease": "Lethal congenital contracture syndrome 1,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Lethal congenital contracture syndrome 1|not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}