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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: 19-37564974-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=37564974&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "ZNF571",
"hgnc_id": 25000,
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_016536.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF540",
"hgnc_id": 25331,
"hgvs_c": "c.-73+13309C>T",
"hgvs_p": null,
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -4,
"transcript": "NM_152606.5",
"verdict": "Likely_benign"
},
{
"benign_score": 4,
"criteria": [
"BP4_Strong"
],
"effects": [
"intron_variant"
],
"gene_symbol": "ZNF571-AS1",
"hgnc_id": 44324,
"hgvs_c": "n.210-1057C>T",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 0,
"score": -4,
"transcript": "ENST00000585578.5",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_score": -4,
"allele_count_reference_population": 41,
"alphamissense_prediction": null,
"alphamissense_score": 0.2612,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.75,
"chr": "19",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.05227094888687134,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_016536.5",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000451802.7",
"protein_coding": true,
"protein_id": "NP_057620.3",
"strand": false,
"transcript": "NM_016536.5",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2289,
"cdna_start": 1575,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000451802.7",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_016536.5",
"protein_coding": true,
"protein_id": "ENSP00000392638.1",
"strand": false,
"transcript": "ENST00000451802.7",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2904,
"cdna_start": 2183,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000593133.5",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000467572.1",
"strand": false,
"transcript": "ENST00000593133.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2777,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000585578.5",
"gene_hgnc_id": 44324,
"gene_symbol": "ZNF571-AS1",
"hgvs_c": "n.210-1057C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000585578.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 477,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586013.5",
"gene_hgnc_id": 44324,
"gene_symbol": "ZNF571-AS1",
"hgvs_c": "n.295-4876C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000586013.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2684,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000586139.5",
"gene_hgnc_id": 44324,
"gene_symbol": "ZNF571-AS1",
"hgvs_c": "n.336-1057C>T",
"hgvs_p": null,
"intron_rank": 2,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000586139.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2511,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000590838.5",
"gene_hgnc_id": 44324,
"gene_symbol": "ZNF571-AS1",
"hgvs_c": "n.296-1057C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000590838.5",
"transcript_support_level": 1
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2389,
"cdna_start": 1675,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001290314.2",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001277243.1",
"strand": false,
"transcript": "NM_001290314.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2943,
"cdna_start": 2229,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "NM_001321272.2",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001308201.1",
"strand": false,
"transcript": "NM_001321272.2",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2049,
"cdna_start": 1644,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000358744.3",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000351594.3",
"strand": false,
"transcript": "ENST00000358744.3",
"transcript_support_level": 2
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 2053,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866821.1",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536880.1",
"strand": false,
"transcript": "ENST00000866821.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2414,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000866822.1",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000536881.1",
"strand": false,
"transcript": "ENST00000866822.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 609,
"aa_ref": "R",
"aa_start": 485,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4367,
"cdna_start": 2128,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000931148.1",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601207.1",
"strand": false,
"transcript": "ENST00000931148.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
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"aa_length": 609,
"aa_ref": "R",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2356,
"cdna_start": 1639,
"cds_end": null,
"cds_length": 1830,
"cds_start": 1454,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000942645.1",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1454G>A",
"hgvs_p": "p.Arg485His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000612704.1",
"strand": false,
"transcript": "ENST00000942645.1",
"transcript_support_level": null
},
{
"aa_alt": "H",
"aa_end": null,
"aa_length": 575,
"aa_ref": "R",
"aa_start": 451,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1558,
"cds_end": null,
"cds_length": 1728,
"cds_start": 1352,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "XM_017026858.2",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.1352G>A",
"hgvs_p": "p.Arg451His",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_016882347.1",
"strand": false,
"transcript": "XM_017026858.2",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 660,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3263,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_152606.5",
"gene_hgnc_id": 25331,
"gene_symbol": "ZNF540",
"hgvs_c": "c.-73+13309C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_689819.1",
"strand": true,
"transcript": "NM_152606.5",
"transcript_support_level": null
},
{
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"aa_ref": null,
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3147,
"cdna_start": null,
"cds_end": null,
"cds_length": 1983,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
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"feature": "ENST00000592533.5",
"gene_hgnc_id": 25331,
"gene_symbol": "ZNF540",
"hgvs_c": "c.-73+13309C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000466274.1",
"strand": true,
"transcript": "ENST00000592533.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1700,
"cdna_start": null,
"cds_end": null,
"cds_length": 429,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000590751.5",
"gene_hgnc_id": 25000,
"gene_symbol": "ZNF571",
"hgvs_c": "c.137-8813G>A",
"hgvs_p": null,
"intron_rank": 4,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000468192.1",
"strand": false,
"transcript": "ENST00000590751.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
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"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 822,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 6,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000587121.1",
"gene_hgnc_id": 44324,
"gene_symbol": "ZNF571-AS1",
"hgvs_c": "n.255-1057C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000587121.1",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 515,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 3,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000589750.5",
"gene_hgnc_id": 44324,
"gene_symbol": "ZNF571-AS1",
"hgvs_c": "n.290-4876C>T",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000589750.5",
"transcript_support_level": 3
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
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