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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: 12-56101214-A-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=56101214&ref=A&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ERBB3",
"hgnc_id": 3431,
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Ser1119Cys",
"inheritance_mode": "AR,AD",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_001982.4",
"verdict": "Benign"
},
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"upstream_gene_variant"
],
"gene_symbol": "ENSG00000257411",
"hgnc_id": null,
"hgvs_c": "c.-117A>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -20,
"transcript": "ENST00000548861.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 170707,
"alphamissense_prediction": null,
"alphamissense_score": 0.078,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.03,
"chr": "12",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.0019624531269073486,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "S",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5615,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "NM_001982.4",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Ser1119Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000267101.8",
"protein_coding": true,
"protein_id": "NP_001973.2",
"strand": true,
"transcript": "NM_001982.4",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "S",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5615,
"cdna_start": 3491,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000267101.8",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Ser1119Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001982.4",
"protein_coding": true,
"protein_id": "ENSP00000267101.4",
"strand": true,
"transcript": "ENST00000267101.8",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 649,
"aa_ref": "S",
"aa_start": 426,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2729,
"cdna_start": 1276,
"cds_end": null,
"cds_length": 1950,
"cds_start": 1276,
"consequences": [
"missense_variant"
],
"exon_count": 13,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000550070.6",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.1276A>T",
"hgvs_p": "p.Ser426Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448946.2",
"strand": true,
"transcript": "ENST00000550070.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000551242.5",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "n.*210A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447510.1",
"strand": true,
"transcript": "ENST00000551242.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2755,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000551242.5",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "n.*210A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000447510.1",
"strand": true,
"transcript": "ENST00000551242.5",
"transcript_support_level": 1
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1342,
"aa_ref": "S",
"aa_start": 1119,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5658,
"cdna_start": 3534,
"cds_end": null,
"cds_length": 4029,
"cds_start": 3355,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000926495.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3355A>T",
"hgvs_p": "p.Ser1119Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000596554.1",
"strand": true,
"transcript": "ENST00000926495.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "S",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4353,
"cdna_start": 3398,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 29,
"exon_rank": 28,
"exon_rank_end": null,
"feature": "ENST00000415288.6",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3178A>T",
"hgvs_p": "p.Ser1060Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000408340.2",
"strand": true,
"transcript": "ENST00000415288.6",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "S",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5417,
"cdna_start": 3312,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000683018.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3178A>T",
"hgvs_p": "p.Ser1060Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000506822.1",
"strand": true,
"transcript": "ENST00000683018.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "S",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5439,
"cdna_start": 3334,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000683059.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3178A>T",
"hgvs_p": "p.Ser1060Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000507402.1",
"strand": true,
"transcript": "ENST00000683059.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "S",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5614,
"cdna_start": 3509,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000683164.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3178A>T",
"hgvs_p": "p.Ser1060Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508051.1",
"strand": true,
"transcript": "ENST00000683164.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1280,
"aa_ref": "S",
"aa_start": 1057,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4191,
"cdna_start": 3305,
"cds_end": null,
"cds_length": 3843,
"cds_start": 3169,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000878115.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3169A>T",
"hgvs_p": "p.Ser1057Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548174.1",
"strand": true,
"transcript": "ENST00000878115.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1278,
"aa_ref": "S",
"aa_start": 1055,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 3280,
"cds_end": null,
"cds_length": 3837,
"cds_start": 3163,
"consequences": [
"missense_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000878114.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3163A>T",
"hgvs_p": "p.Ser1055Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548173.1",
"strand": true,
"transcript": "ENST00000878114.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1252,
"aa_ref": "S",
"aa_start": 1114,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4800,
"cdna_start": 3469,
"cds_end": null,
"cds_length": 3759,
"cds_start": 3340,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "ENST00000878113.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3340A>T",
"hgvs_p": "p.Ser1114Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548172.1",
"strand": true,
"transcript": "ENST00000878113.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 462,
"aa_ref": "S",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3289,
"cdna_start": 1171,
"cds_end": null,
"cds_length": 1389,
"cds_start": 715,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000549832.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.715A>T",
"hgvs_p": "p.Ser239Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448729.1",
"strand": true,
"transcript": "ENST00000549832.1",
"transcript_support_level": 2
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "S",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5466,
"cdna_start": 3342,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047428500.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3178A>T",
"hgvs_p": "p.Ser1060Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284456.1",
"strand": true,
"transcript": "XM_047428500.1",
"transcript_support_level": null
},
{
"aa_alt": "C",
"aa_end": null,
"aa_length": 1283,
"aa_ref": "S",
"aa_start": 1060,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5632,
"cdna_start": 3508,
"cds_end": null,
"cds_length": 3852,
"cds_start": 3178,
"consequences": [
"missense_variant"
],
"exon_count": 28,
"exon_rank": 27,
"exon_rank_end": null,
"feature": "XM_047428501.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "c.3178A>T",
"hgvs_p": "p.Ser1060Cys",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047284457.1",
"strand": true,
"transcript": "XM_047428501.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 4382,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 27,
"exon_rank": 26,
"exon_rank_end": null,
"feature": "ENST00000551085.5",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "n.*772A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000448483.1",
"strand": true,
"transcript": "ENST00000551085.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3237,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000553131.5",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "n.1812A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000553131.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 6264,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 24,
"exon_rank": 23,
"exon_rank_end": null,
"feature": "ENST00000682431.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "n.4841A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682431.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 3119,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000682512.1",
"gene_hgnc_id": 3431,
"gene_symbol": "ERBB3",
"hgvs_c": "n.1696A>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000682512.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
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}