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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: 5-148427279-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=148427279&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "FBXO38",
"hgnc_id": 28844,
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_205836.3",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 10,
"alphamissense_prediction": null,
"alphamissense_score": 0.1118,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.44,
"chr": "5",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "Distal hereditary motor neuropathy type 2",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.09441113471984863,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "Q",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 3567,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_205836.3",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340253.10",
"protein_coding": true,
"protein_id": "NP_995308.1",
"strand": true,
"transcript": "NM_205836.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1188,
"aa_ref": "Q",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4401,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 3567,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000340253.10",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_205836.3",
"protein_coding": true,
"protein_id": "ENSP00000342023.6",
"strand": true,
"transcript": "ENST00000340253.10",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "Q",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4132,
"cdna_start": 2086,
"cds_end": null,
"cds_length": 3342,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000394370.7",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000377895.3",
"strand": true,
"transcript": "ENST00000394370.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 943,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3585,
"cdna_start": null,
"cds_end": null,
"cds_length": 2832,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 20,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000513826.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1918+1578A>G",
"hgvs_p": null,
"intron_rank": 13,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426410.1",
"strand": true,
"transcript": "ENST00000513826.1",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1189,
"aa_ref": "Q",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4410,
"cdna_start": 2133,
"cds_end": null,
"cds_length": 3570,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000851429.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Gln663Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521488.1",
"strand": true,
"transcript": "ENST00000851429.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1169,
"aa_ref": "Q",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4356,
"cdna_start": 2085,
"cds_end": null,
"cds_length": 3510,
"cds_start": 1928,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000851426.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1928A>G",
"hgvs_p": "p.Gln643Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521485.1",
"strand": true,
"transcript": "ENST00000851426.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1146,
"aa_ref": "Q",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4290,
"cdna_start": 2145,
"cds_end": null,
"cds_length": 3441,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000851423.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521483.1",
"strand": true,
"transcript": "ENST00000851423.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1142,
"aa_ref": "Q",
"aa_start": 616,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3949,
"cdna_start": 1963,
"cds_end": null,
"cds_length": 3429,
"cds_start": 1847,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000949015.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1847A>G",
"hgvs_p": "p.Gln616Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619074.1",
"strand": true,
"transcript": "ENST00000949015.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1127,
"aa_ref": "Q",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3940,
"cdna_start": 2070,
"cds_end": null,
"cds_length": 3384,
"cds_start": 1928,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000949014.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1928A>G",
"hgvs_p": "p.Gln643Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619073.1",
"strand": true,
"transcript": "ENST00000949014.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1123,
"aa_ref": "Q",
"aa_start": 597,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3929,
"cdna_start": 1932,
"cds_end": null,
"cds_length": 3372,
"cds_start": 1790,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000949013.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1790A>G",
"hgvs_p": "p.Gln597Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619072.1",
"strand": true,
"transcript": "ENST00000949013.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1114,
"aa_ref": "Q",
"aa_start": 663,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4157,
"cdna_start": 2112,
"cds_end": null,
"cds_length": 3345,
"cds_start": 1988,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000851430.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1988A>G",
"hgvs_p": "p.Gln663Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521489.1",
"strand": true,
"transcript": "ENST00000851430.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1113,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4176,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 3342,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_030793.5",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_110420.3",
"strand": true,
"transcript": "NM_030793.5",
"transcript_support_level": null
},
{
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"aa_length": 1113,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4252,
"cdna_start": 2192,
"cds_end": null,
"cds_length": 3342,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000851420.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000521480.1",
"strand": true,
"transcript": "ENST00000851420.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4185,
"cdna_start": 2126,
"cds_end": null,
"cds_length": 3342,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000949010.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619069.1",
"strand": true,
"transcript": "ENST00000949010.1",
"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": 3920,
"cdna_start": 2149,
"cds_end": null,
"cds_length": 3342,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000949016.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619075.1",
"strand": true,
"transcript": "ENST00000949016.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1078,
"aa_ref": "Q",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3714,
"cdna_start": 1718,
"cds_end": null,
"cds_length": 3237,
"cds_start": 1655,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000928055.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Gln552Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598114.1",
"strand": true,
"transcript": "ENST00000928055.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1003,
"aa_ref": "Q",
"aa_start": 552,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3580,
"cdna_start": 1811,
"cds_end": null,
"cds_length": 3012,
"cds_start": 1655,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000949012.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1655A>G",
"hgvs_p": "p.Gln552Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000619071.1",
"strand": true,
"transcript": "ENST00000949012.1",
"transcript_support_level": null
},
{
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"aa_length": 1188,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5468,
"cdna_start": 3197,
"cds_end": null,
"cds_length": 3567,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_024446223.2",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_024301991.1",
"strand": true,
"transcript": "XM_024446223.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 1146,
"aa_ref": "Q",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4275,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 3441,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_006714797.3",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_006714860.1",
"strand": true,
"transcript": "XM_006714797.3",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 1113,
"aa_ref": "Q",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5243,
"cdna_start": 3197,
"cds_end": null,
"cds_length": 3342,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "XM_047417784.1",
"gene_hgnc_id": 28844,
"gene_symbol": "FBXO38",
"hgvs_c": "c.1985A>G",
"hgvs_p": "p.Gln662Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047273740.1",
"strand": true,
"transcript": "XM_047417784.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 994,
"aa_ref": "Q",
"aa_start": 662,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3229,
"cdna_start": 2130,
"cds_end": null,
"cds_length": 2985,
"cds_start": 1985,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 15,
"exon_rank_end": null,
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