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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: 16-20333341-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=20333341&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 11,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "UMOD",
"hgnc_id": 12559,
"hgvs_c": "c.2037G>A",
"hgvs_p": "p.Ser679Ser",
"inheritance_mode": "AD,Unknown",
"pathogenic_score": 0,
"score": -11,
"transcript": "NM_001378234.1",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_score": -11,
"allele_count_reference_population": 41,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.59,
"chr": "16",
"clinvar_classification": "Likely benign",
"clinvar_disease": "not provided",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.5899999737739563,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_003361.4",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000396138.9",
"protein_coding": true,
"protein_id": "NP_003352.2",
"strand": false,
"transcript": "NM_003361.4",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 2025,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000396138.9",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_003361.4",
"protein_coding": true,
"protein_id": "ENSP00000379442.5",
"strand": false,
"transcript": "ENST00000396138.9",
"transcript_support_level": 5
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 673,
"aa_ref": "S",
"aa_start": 665,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2408,
"cdna_start": 2119,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1995,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000396134.6",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1995G>A",
"hgvs_p": "p.Ser665Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000379438.2",
"strand": false,
"transcript": "ENST00000396134.6",
"transcript_support_level": 2
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 694,
"aa_ref": "S",
"aa_start": 686,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2085,
"cds_start": 2058,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863077.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.2058G>A",
"hgvs_p": "p.Ser686Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533136.1",
"strand": false,
"transcript": "ENST00000863077.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 691,
"aa_ref": "S",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2468,
"cdna_start": 2178,
"cds_end": null,
"cds_length": 2076,
"cds_start": 2049,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863084.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.2049G>A",
"hgvs_p": "p.Ser683Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533143.1",
"strand": false,
"transcript": "ENST00000863084.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 691,
"aa_ref": "S",
"aa_start": 683,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2453,
"cdna_start": 2163,
"cds_end": null,
"cds_length": 2076,
"cds_start": 2049,
"consequences": [
"synonymous_variant"
],
"exon_count": 13,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000863087.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.2049G>A",
"hgvs_p": "p.Ser683Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533146.1",
"strand": false,
"transcript": "ENST00000863087.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "S",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2393,
"cdna_start": 2103,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378234.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.2037G>A",
"hgvs_p": "p.Ser679Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365163.1",
"strand": false,
"transcript": "NM_001378234.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 687,
"aa_ref": "S",
"aa_start": 679,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2456,
"cdna_start": 2166,
"cds_end": null,
"cds_length": 2064,
"cds_start": 2037,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378235.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.2037G>A",
"hgvs_p": "p.Ser679Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365164.1",
"strand": false,
"transcript": "NM_001378235.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 673,
"aa_ref": "S",
"aa_start": 665,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 2124,
"cds_end": null,
"cds_length": 2022,
"cds_start": 1995,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001278614.2",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1995G>A",
"hgvs_p": "p.Ser665Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001265543.1",
"strand": false,
"transcript": "NM_001278614.2",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 663,
"aa_ref": "S",
"aa_start": 655,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2384,
"cdna_start": 2094,
"cds_end": null,
"cds_length": 1992,
"cds_start": 1965,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863082.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1965G>A",
"hgvs_p": "p.Ser655Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533141.1",
"strand": false,
"transcript": "ENST00000863082.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2252,
"cdna_start": 1962,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001008389.3",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001008390.1",
"strand": false,
"transcript": "NM_001008389.3",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 640,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2411,
"cdna_start": 2121,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378232.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365161.1",
"strand": false,
"transcript": "NM_001378232.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 640,
"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2474,
"cdna_start": 2184,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001378233.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001365162.1",
"strand": false,
"transcript": "NM_001378233.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2315,
"cdna_start": 2043,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000570689.5",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000460548.1",
"strand": false,
"transcript": "ENST00000570689.5",
"transcript_support_level": 5
},
{
"aa_alt": "S",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 2207,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863071.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533130.1",
"strand": false,
"transcript": "ENST00000863071.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 640,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2317,
"cdna_start": 2027,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863072.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533131.1",
"strand": false,
"transcript": "ENST00000863072.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "S",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2624,
"cdna_start": 2334,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
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],
"exon_count": 11,
"exon_rank": 11,
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"feature": "ENST00000863073.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000533132.1",
"strand": false,
"transcript": "ENST00000863073.1",
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},
{
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_start": 2245,
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"consequences": [
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],
"exon_count": 11,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000863075.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533134.1",
"strand": false,
"transcript": "ENST00000863075.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_ref": "S",
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"biotype": "protein_coding",
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"cdna_start": 2121,
"cds_end": null,
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"cds_start": 1896,
"consequences": [
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],
"exon_count": 12,
"exon_rank": 12,
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"feature": "ENST00000863076.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533135.1",
"strand": false,
"transcript": "ENST00000863076.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
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"aa_length": 640,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2536,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863078.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000533137.1",
"strand": false,
"transcript": "ENST00000863078.1",
"transcript_support_level": null
},
{
"aa_alt": "S",
"aa_end": null,
"aa_length": 640,
"aa_ref": "S",
"aa_start": 632,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2302,
"cdna_start": 2011,
"cds_end": null,
"cds_length": 1923,
"cds_start": 1896,
"consequences": [
"synonymous_variant"
],
"exon_count": 12,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000863080.1",
"gene_hgnc_id": 12559,
"gene_symbol": "UMOD",
"hgvs_c": "c.1896G>A",
"hgvs_p": "p.Ser632Ser",
"intron_rank": null,
"intron_rank_end": null,
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