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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: 5-148438363-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=148438363&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 148438363,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_205836.3",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2889G>C",
"hgvs_p": "p.Lys963Asn",
"transcript": "NM_205836.3",
"protein_id": "NP_995308.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2889,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340253.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_205836.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2889G>C",
"hgvs_p": "p.Lys963Asn",
"transcript": "ENST00000340253.10",
"protein_id": "ENSP00000342023.6",
"transcript_support_level": 5,
"aa_start": 963,
"aa_end": null,
"aa_length": 1188,
"cds_start": 2889,
"cds_end": null,
"cds_length": 3567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_205836.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340253.10"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2664G>C",
"hgvs_p": "p.Lys888Asn",
"transcript": "ENST00000394370.7",
"protein_id": "ENSP00000377895.3",
"transcript_support_level": 1,
"aa_start": 888,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2664,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000394370.7"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2154G>C",
"hgvs_p": "p.Lys718Asn",
"transcript": "ENST00000513826.1",
"protein_id": "ENSP00000426410.1",
"transcript_support_level": 1,
"aa_start": 718,
"aa_end": null,
"aa_length": 943,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000513826.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2892G>C",
"hgvs_p": "p.Lys964Asn",
"transcript": "ENST00000851429.1",
"protein_id": "ENSP00000521488.1",
"transcript_support_level": null,
"aa_start": 964,
"aa_end": null,
"aa_length": 1189,
"cds_start": 2892,
"cds_end": null,
"cds_length": 3570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851429.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2832G>C",
"hgvs_p": "p.Lys944Asn",
"transcript": "ENST00000851426.1",
"protein_id": "ENSP00000521485.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 1169,
"cds_start": 2832,
"cds_end": null,
"cds_length": 3510,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851426.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2763G>C",
"hgvs_p": "p.Lys921Asn",
"transcript": "ENST00000851423.1",
"protein_id": "ENSP00000521483.1",
"transcript_support_level": null,
"aa_start": 921,
"aa_end": null,
"aa_length": 1146,
"cds_start": 2763,
"cds_end": null,
"cds_length": 3441,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851423.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2751G>C",
"hgvs_p": "p.Lys917Asn",
"transcript": "ENST00000949015.1",
"protein_id": "ENSP00000619074.1",
"transcript_support_level": null,
"aa_start": 917,
"aa_end": null,
"aa_length": 1142,
"cds_start": 2751,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949015.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2706G>C",
"hgvs_p": "p.Lys902Asn",
"transcript": "ENST00000949014.1",
"protein_id": "ENSP00000619073.1",
"transcript_support_level": null,
"aa_start": 902,
"aa_end": null,
"aa_length": 1127,
"cds_start": 2706,
"cds_end": null,
"cds_length": 3384,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949014.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2694G>C",
"hgvs_p": "p.Lys898Asn",
"transcript": "ENST00000949013.1",
"protein_id": "ENSP00000619072.1",
"transcript_support_level": null,
"aa_start": 898,
"aa_end": null,
"aa_length": 1123,
"cds_start": 2694,
"cds_end": null,
"cds_length": 3372,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949013.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2667G>C",
"hgvs_p": "p.Lys889Asn",
"transcript": "ENST00000851430.1",
"protein_id": "ENSP00000521489.1",
"transcript_support_level": null,
"aa_start": 889,
"aa_end": null,
"aa_length": 1114,
"cds_start": 2667,
"cds_end": null,
"cds_length": 3345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851430.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2664G>C",
"hgvs_p": "p.Lys888Asn",
"transcript": "NM_030793.5",
"protein_id": "NP_110420.3",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2664,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_030793.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2664G>C",
"hgvs_p": "p.Lys888Asn",
"transcript": "ENST00000851420.1",
"protein_id": "ENSP00000521480.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2664,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851420.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2664G>C",
"hgvs_p": "p.Lys888Asn",
"transcript": "ENST00000949010.1",
"protein_id": "ENSP00000619069.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2664,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949010.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2664G>C",
"hgvs_p": "p.Lys888Asn",
"transcript": "ENST00000949016.1",
"protein_id": "ENSP00000619075.1",
"transcript_support_level": null,
"aa_start": 888,
"aa_end": null,
"aa_length": 1113,
"cds_start": 2664,
"cds_end": null,
"cds_length": 3342,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949016.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2559G>C",
"hgvs_p": "p.Lys853Asn",
"transcript": "ENST00000928055.1",
"protein_id": "ENSP00000598114.1",
"transcript_support_level": null,
"aa_start": 853,
"aa_end": null,
"aa_length": 1078,
"cds_start": 2559,
"cds_end": null,
"cds_length": 3237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000928055.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2334G>C",
"hgvs_p": "p.Lys778Asn",
"transcript": "ENST00000949012.1",
"protein_id": "ENSP00000619071.1",
"transcript_support_level": null,
"aa_start": 778,
"aa_end": null,
"aa_length": 1003,
"cds_start": 2334,
"cds_end": null,
"cds_length": 3012,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949012.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2154G>C",
"hgvs_p": "p.Lys718Asn",
"transcript": "NM_001271723.2",
"protein_id": "NP_001258652.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 943,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271723.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2154G>C",
"hgvs_p": "p.Lys718Asn",
"transcript": "ENST00000296701.10",
"protein_id": "ENSP00000296701.6",
"transcript_support_level": 2,
"aa_start": 718,
"aa_end": null,
"aa_length": 943,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2832,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000296701.10"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2097G>C",
"hgvs_p": "p.Lys699Asn",
"transcript": "ENST00000949011.1",
"protein_id": "ENSP00000619070.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 924,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949011.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.1767G>C",
"hgvs_p": "p.Lys589Asn",
"transcript": "ENST00000851431.1",
"protein_id": "ENSP00000521490.1",
"transcript_support_level": null,
"aa_start": 589,
"aa_end": null,
"aa_length": 814,
"cds_start": 1767,
"cds_end": null,
"cds_length": 2445,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000851431.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO38",
"gene_hgnc_id": 28844,
"hgvs_c": "c.2889G>C",
"hgvs_p": "p.Lys963Asn",
"transcript": "XM_024446223.2",
"protein_id": "XP_024301991.1",
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -7,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -7,
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"BS2"
],
"verdict": "Benign",
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],
"clinvar_disease": "Distal hereditary motor neuropathy type 2,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:2",
"phenotype_combined": "Distal hereditary motor neuropathy type 2|not specified|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}