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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: 1-113958148-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=113958148&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "HIPK1",
"hgnc_id": 19006,
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"inheritance_mode": "AD",
"pathogenic_score": 2,
"score": 2,
"transcript": "NM_198268.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_score": 2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.2851,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.13,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Uncertain_significance",
"computational_score_selected": 0.7026995420455933,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8201,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_198268.3",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000426820.7",
"protein_coding": true,
"protein_id": "NP_938009.1",
"strand": true,
"transcript": "NM_198268.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 8201,
"cdna_start": 2049,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000426820.7",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_198268.3",
"protein_coding": true,
"protein_id": "ENSP00000407442.3",
"strand": true,
"transcript": "ENST00000426820.7",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8157,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369558.5",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358571.1",
"strand": true,
"transcript": "ENST00000369558.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1075,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3424,
"cdna_start": 1999,
"cds_end": null,
"cds_length": 3228,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369559.8",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358572.4",
"strand": true,
"transcript": "ENST00000369559.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 836,
"aa_ref": "Q",
"aa_start": 239,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6997,
"cdna_start": 910,
"cds_end": null,
"cds_length": 2511,
"cds_start": 716,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000340480.8",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.716A>G",
"hgvs_p": "p.Gln239Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340956.4",
"strand": true,
"transcript": "ENST00000340480.8",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 816,
"aa_ref": "Q",
"aa_start": 219,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2883,
"cdna_start": 719,
"cds_end": null,
"cds_length": 2451,
"cds_start": 656,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000369553.5",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.656A>G",
"hgvs_p": "p.Gln219Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358566.1",
"strand": true,
"transcript": "ENST00000369553.5",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8088,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369806.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356735.1",
"strand": true,
"transcript": "NM_001369806.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4522,
"cdna_start": 2261,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901069.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571128.1",
"strand": true,
"transcript": "ENST00000901069.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4221,
"cdna_start": 1960,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000901070.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571129.1",
"strand": true,
"transcript": "ENST00000901070.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1210,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4122,
"cdna_start": 1861,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000901071.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571130.1",
"strand": true,
"transcript": "ENST00000901071.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1210,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4239,
"cdna_start": 1978,
"cds_end": null,
"cds_length": 3633,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000901072.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571131.1",
"strand": true,
"transcript": "ENST00000901072.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1209,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8085,
"cdna_start": 1936,
"cds_end": null,
"cds_length": 3630,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001369807.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001356736.1",
"strand": true,
"transcript": "NM_001369807.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7870,
"cdna_start": 1864,
"cds_end": null,
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"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000901068.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000571127.1",
"strand": true,
"transcript": "ENST00000901068.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1176,
"aa_ref": "Q",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7986,
"cdna_start": 1834,
"cds_end": null,
"cds_length": 3531,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001410847.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Gln579Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001397776.1",
"strand": true,
"transcript": "NM_001410847.1",
"transcript_support_level": null
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_end": null,
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"cdna_start": 1923,
"cds_end": null,
"cds_length": 3531,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369561.8",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1736A>G",
"hgvs_p": "p.Gln579Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000358574.4",
"strand": true,
"transcript": "ENST00000369561.8",
"transcript_support_level": 5
},
{
"aa_alt": "R",
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"aa_length": 1170,
"aa_ref": "Q",
"aa_start": 573,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8085,
"cdna_start": 2007,
"cds_end": null,
"cds_length": 3513,
"cds_start": 1718,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000931242.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1718A>G",
"hgvs_p": "p.Gln573Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601301.1",
"strand": true,
"transcript": "ENST00000931242.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1165,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
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"cdna_start": 1921,
"cds_end": null,
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"consequences": [
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],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000369555.6",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
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"mane_plus": null,
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"protein_coding": true,
"protein_id": "ENSP00000358568.1",
"strand": true,
"transcript": "ENST00000369555.6",
"transcript_support_level": 5
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_start": 1999,
"cds_end": null,
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"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000626993.2",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000486090.1",
"strand": true,
"transcript": "ENST00000626993.2",
"transcript_support_level": 5
},
{
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"aa_ref": "Q",
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"biotype": "protein_coding",
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"cdna_start": 2307,
"cds_end": null,
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"cds_start": 1838,
"consequences": [
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],
"exon_count": 17,
"exon_rank": 10,
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"feature": "ENST00000931243.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
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"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601302.1",
"strand": true,
"transcript": "ENST00000931243.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1164,
"aa_ref": "Q",
"aa_start": 613,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 8095,
"cdna_start": 2150,
"cds_end": null,
"cds_length": 3495,
"cds_start": 1838,
"consequences": [
"missense_variant"
],
"exon_count": 15,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000931241.1",
"gene_hgnc_id": 19006,
"gene_symbol": "HIPK1",
"hgvs_c": "c.1838A>G",
"hgvs_p": "p.Gln613Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000601300.1",
"strand": true,
"transcript": "ENST00000931241.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1151,
"aa_ref": "Q",
"aa_start": 579,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 7868,
"cdna_start": 1859,
"cds_end": null,
"cds_length": 3456,
"cds_start": 1736,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000931244.1",
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