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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: 12-56101207-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56101207&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 56101207,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000267101.8",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3348G>C",
"hgvs_p": "p.Arg1116Ser",
"transcript": "NM_001982.4",
"protein_id": "NP_001973.2",
"transcript_support_level": null,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3348,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 5615,
"mane_select": "ENST00000267101.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3348G>C",
"hgvs_p": "p.Arg1116Ser",
"transcript": "ENST00000267101.8",
"protein_id": "ENSP00000267101.4",
"transcript_support_level": 1,
"aa_start": 1116,
"aa_end": null,
"aa_length": 1342,
"cds_start": 3348,
"cds_end": null,
"cds_length": 4029,
"cdna_start": 3484,
"cdna_end": null,
"cdna_length": 5615,
"mane_select": "NM_001982.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.1269G>C",
"hgvs_p": "p.Arg423Ser",
"transcript": "ENST00000550070.6",
"protein_id": "ENSP00000448946.2",
"transcript_support_level": 1,
"aa_start": 423,
"aa_end": null,
"aa_length": 649,
"cds_start": 1269,
"cds_end": null,
"cds_length": 1950,
"cdna_start": 1269,
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.*203G>C",
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.*203G>C",
"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": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3171G>C",
"hgvs_p": "p.Arg1057Ser",
"transcript": "ENST00000415288.6",
"protein_id": "ENSP00000408340.2",
"transcript_support_level": 2,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3391,
"cdna_end": null,
"cdna_length": 4353,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3171G>C",
"hgvs_p": "p.Arg1057Ser",
"transcript": "ENST00000683018.1",
"protein_id": "ENSP00000506822.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3305,
"cdna_end": null,
"cdna_length": 5417,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3171G>C",
"hgvs_p": "p.Arg1057Ser",
"transcript": "ENST00000683059.1",
"protein_id": "ENSP00000507402.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3327,
"cdna_end": null,
"cdna_length": 5439,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3171G>C",
"hgvs_p": "p.Arg1057Ser",
"transcript": "ENST00000683164.1",
"protein_id": "ENSP00000508051.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3502,
"cdna_end": null,
"cdna_length": 5614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.708G>C",
"hgvs_p": "p.Arg236Ser",
"transcript": "ENST00000549832.1",
"protein_id": "ENSP00000448729.1",
"transcript_support_level": 2,
"aa_start": 236,
"aa_end": null,
"aa_length": 462,
"cds_start": 708,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 1164,
"cdna_end": null,
"cdna_length": 3289,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3171G>C",
"hgvs_p": "p.Arg1057Ser",
"transcript": "XM_047428500.1",
"protein_id": "XP_047284456.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3335,
"cdna_end": null,
"cdna_length": 5466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "c.3171G>C",
"hgvs_p": "p.Arg1057Ser",
"transcript": "XM_047428501.1",
"protein_id": "XP_047284457.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1283,
"cds_start": 3171,
"cds_end": null,
"cds_length": 3852,
"cdna_start": 3501,
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.*765G>C",
"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": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.1805G>C",
"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": 23,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.4834G>C",
"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": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.1689G>C",
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.1018G>C",
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.952G>C",
"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": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.4081G>C",
"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": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.4389G>C",
"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": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.1922G>C",
"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": 26,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ERBB3",
"gene_hgnc_id": 3431,
"hgvs_c": "n.*765G>C",
"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": true,
"protein_coding": true,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000257411",
"gene_hgnc_id": null,
"hgvs_c": "c.-124G>C",
"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,
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"cdna_length": 489,
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"feature": null
}
],
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"dbsnp": "rs2271189",
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.1612643301486969,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.202,
"revel_prediction": "Benign",
"alphamissense_score": 0.1512,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.31,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.554,
"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": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate",
"acmg_by_gene": [
{
"score": -2,
"benign_score": 2,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000267101.8",
"gene_symbol": "ERBB3",
"hgnc_id": 3431,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.3348G>C",
"hgvs_p": "p.Arg1116Ser"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000548861.2",
"gene_symbol": "ENSG00000257411",
"hgnc_id": null,
"effects": [
"upstream_gene_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-124G>C",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}