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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: 8-144360408-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144360408&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1",
"PS3",
"PM1",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC52A2",
"hgnc_id": 30224,
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"inheritance_mode": "AR",
"pathogenic_score": 24,
"score": 24,
"transcript": "NM_024531.5",
"verdict": "Pathogenic"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1,PS3,PM1,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_score": 24,
"allele_count_reference_population": 179,
"alphamissense_prediction": null,
"alphamissense_score": 0.6073,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.37,
"chr": "8",
"clinvar_classification": "Pathogenic",
"clinvar_disease": "Brown-Vialetto-van Laere syndrome 2,Inborn genetic diseases,Mitochondrial disease,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:7 O:1",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.9932238459587097,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363118.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000643944.2",
"protein_coding": true,
"protein_id": "NP_001350047.1",
"strand": true,
"transcript": "NM_001363118.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1479,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000643944.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001363118.2",
"protein_coding": true,
"protein_id": "ENSP00000496184.2",
"strand": true,
"transcript": "ENST00000643944.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1910,
"cdna_start": 1217,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000329994.7",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000333638.2",
"strand": true,
"transcript": "ENST00000329994.7",
"transcript_support_level": 1
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1747,
"cdna_start": 1068,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001253815.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240744.1",
"strand": true,
"transcript": "NM_001253815.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1764,
"cdna_start": 1085,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001253816.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001240745.1",
"strand": true,
"transcript": "NM_001253816.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1993,
"cdna_start": 1314,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363120.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350049.1",
"strand": true,
"transcript": "NM_001363120.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2154,
"cdna_start": 1475,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001363121.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001350050.1",
"strand": true,
"transcript": "NM_001363121.2",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1989,
"cdna_start": 1310,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438495.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425424.1",
"strand": true,
"transcript": "NM_001438495.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1748,
"cdna_start": 1069,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438496.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425425.1",
"strand": true,
"transcript": "NM_001438496.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1872,
"cdna_start": 1193,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001438497.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001425426.1",
"strand": true,
"transcript": "NM_001438497.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1876,
"cdna_start": 1197,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_024531.5",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_078807.1",
"strand": true,
"transcript": "NM_024531.5",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 1100,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000402965.5",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000385961.1",
"strand": true,
"transcript": "ENST00000402965.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2041,
"cdna_start": 1362,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000527078.6",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434728.1",
"strand": true,
"transcript": "ENST00000527078.6",
"transcript_support_level": 5
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1757,
"cdna_start": 1080,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000530047.5",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000435820.1",
"strand": true,
"transcript": "ENST00000530047.5",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2104,
"cdna_start": 1425,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000532815.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501933.1",
"strand": true,
"transcript": "ENST00000532815.2",
"transcript_support_level": 4
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2294,
"cdna_start": 1615,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000533662.2",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502274.1",
"strand": true,
"transcript": "ENST00000533662.2",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2172,
"cdna_start": 1493,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000534725.6",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000431965.2",
"strand": true,
"transcript": "ENST00000534725.6",
"transcript_support_level": 2
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1696,
"cdna_start": 1017,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000674870.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502406.1",
"strand": true,
"transcript": "ENST00000674870.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1740,
"cdna_start": 1061,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675121.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000501993.1",
"strand": true,
"transcript": "ENST00000675121.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1879,
"cdna_start": 1200,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000675280.1",
"gene_hgnc_id": 30224,
"gene_symbol": "SLC52A2",
"hgvs_c": "c.916G>A",
"hgvs_p": "p.Gly306Arg",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000502796.1",
"strand": true,
"transcript": "ENST00000675280.1",
"transcript_support_level": null
},
{
"aa_alt": "R",
"aa_end": null,
"aa_length": 445,
"aa_ref": "G",
"aa_start": 306,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2099,
"cdna_start": 1420,
"cds_end": null,
"cds_length": 1338,
"cds_start": 916,
"consequences": [
"missense_variant"
],
"exon_count": 5,
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