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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: 8-74364101-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=74364101&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PS3",
"PM1",
"PP2",
"PP3_Moderate",
"PP5",
"BS2"
],
"effects": [
"missense_variant"
],
"gene_symbol": "GDAP1",
"hgnc_id": 15968,
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"inheritance_mode": "AR,AD,SD",
"pathogenic_score": 10,
"score": 6,
"transcript": "NM_018972.4",
"verdict": "Likely_pathogenic"
}
],
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PS3,PM1,PP2,PP3_Moderate,PP5,BS2",
"acmg_score": 6,
"allele_count_reference_population": 53,
"alphamissense_prediction": null,
"alphamissense_score": 0.6405,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.52,
"chr": "8",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_disease": "Charcot-Marie-Tooth disease,Charcot-Marie-Tooth disease axonal type 2K,Charcot-Marie-Tooth disease type 4A,not provided",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 LP:2 US:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8543112277984619,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1077,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_018972.4",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000220822.12",
"protein_coding": true,
"protein_id": "NP_061845.2",
"strand": true,
"transcript": "NM_018972.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 358,
"aa_ref": "G",
"aa_start": 271,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 3645,
"cdna_start": 870,
"cds_end": null,
"cds_length": 1077,
"cds_start": 811,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000220822.12",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.811G>A",
"hgvs_p": "p.Gly271Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018972.4",
"protein_coding": true,
"protein_id": "ENSP00000220822.7",
"strand": true,
"transcript": "ENST00000220822.12",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 314,
"aa_ref": "G",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2471,
"cdna_start": 738,
"cds_end": null,
"cds_length": 945,
"cds_start": 679,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000434412.3",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.679G>A",
"hgvs_p": "p.Gly227Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000417006.3",
"strand": true,
"transcript": "ENST00000434412.3",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 384,
"aa_ref": "G",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3681,
"cdna_start": 942,
"cds_end": null,
"cds_length": 1155,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000675463.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Gly297Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502327.1",
"strand": true,
"transcript": "ENST00000675463.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 380,
"aa_ref": "G",
"aa_start": 293,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3697,
"cdna_start": 943,
"cds_end": null,
"cds_length": 1143,
"cds_start": 877,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000676112.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.877G>A",
"hgvs_p": "p.Gly293Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502295.1",
"strand": true,
"transcript": "ENST00000676112.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 357,
"aa_ref": "G",
"aa_start": 270,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3616,
"cdna_start": 867,
"cds_end": null,
"cds_length": 1074,
"cds_start": 808,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675165.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.808G>A",
"hgvs_p": "p.Gly270Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502612.1",
"strand": true,
"transcript": "ENST00000675165.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 342,
"aa_ref": "G",
"aa_start": 255,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3545,
"cdna_start": 830,
"cds_end": null,
"cds_length": 1029,
"cds_start": 763,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000676443.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.763G>A",
"hgvs_p": "p.Gly255Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501769.1",
"strand": true,
"transcript": "ENST00000676443.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 300,
"aa_ref": "G",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3471,
"cdna_start": 696,
"cds_end": null,
"cds_length": 903,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001362930.2",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349859.1",
"strand": true,
"transcript": "NM_001362930.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 300,
"aa_ref": "G",
"aa_start": 213,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2378,
"cdna_start": 704,
"cds_end": null,
"cds_length": 903,
"cds_start": 637,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675928.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.637G>A",
"hgvs_p": "p.Gly213Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501568.1",
"strand": true,
"transcript": "ENST00000675928.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3515,
"cdna_start": 740,
"cds_end": null,
"cds_length": 873,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001040875.4",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001035808.1",
"strand": true,
"transcript": "NM_001040875.4",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4684,
"cdna_start": 725,
"cds_end": null,
"cds_length": 873,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674865.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502437.1",
"strand": true,
"transcript": "ENST00000674865.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 290,
"aa_ref": "G",
"aa_start": 203,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3708,
"cdna_start": 946,
"cds_end": null,
"cds_length": 873,
"cds_start": 607,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000675944.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.607G>A",
"hgvs_p": "p.Gly203Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502673.1",
"strand": true,
"transcript": "ENST00000675944.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 284,
"aa_ref": "G",
"aa_start": 197,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2382,
"cdna_start": 649,
"cds_end": null,
"cds_length": 855,
"cds_start": 589,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000937478.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.589G>A",
"hgvs_p": "p.Gly197Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607537.1",
"strand": true,
"transcript": "ENST00000937478.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 256,
"aa_ref": "G",
"aa_start": 169,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3326,
"cdna_start": 564,
"cds_end": null,
"cds_length": 771,
"cds_start": 505,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674973.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.505G>A",
"hgvs_p": "p.Gly169Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502447.1",
"strand": true,
"transcript": "ENST00000674973.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3500,
"cdna_start": 725,
"cds_end": null,
"cds_length": 750,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001362929.2",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349858.1",
"strand": true,
"transcript": "NM_001362929.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3452,
"cdna_start": 677,
"cds_end": null,
"cds_length": 750,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "NM_001362932.2",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001349861.1",
"strand": true,
"transcript": "NM_001362932.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3370,
"cdna_start": 650,
"cds_end": null,
"cds_length": 750,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000674612.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501864.1",
"strand": true,
"transcript": "ENST00000674612.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
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"aa_length": 249,
"aa_ref": "G",
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"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3558,
"cdna_start": 807,
"cds_end": null,
"cds_length": 750,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000674806.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502637.1",
"strand": true,
"transcript": "ENST00000674806.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3407,
"cdna_start": 667,
"cds_end": null,
"cds_length": 750,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675220.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502588.1",
"strand": true,
"transcript": "ENST00000675220.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3593,
"cdna_start": 818,
"cds_end": null,
"cds_length": 750,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675376.1",
"gene_hgnc_id": 15968,
"gene_symbol": "GDAP1",
"hgvs_c": "c.484G>A",
"hgvs_p": "p.Gly162Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502838.1",
"strand": true,
"transcript": "ENST00000675376.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 249,
"aa_ref": "G",
"aa_start": 162,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3606,
"cdna_start": 850,
"cds_end": null,
"cds_length": 750,
"cds_start": 484,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000675821.1",
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}