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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: 15-40105806-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=40105806&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 40105806,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_033503.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001003940.2",
"protein_id": "NP_001003940.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354670.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001003940.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000354670.9",
"protein_id": "ENSP00000346697.4",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001003940.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354670.9"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000397573.5",
"protein_id": "ENSP00000380703.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397573.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000561282.5",
"protein_id": "ENSP00000453522.1",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561282.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000561360.5",
"protein_id": "ENSP00000453892.1",
"transcript_support_level": 3,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561360.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000431415.3",
"protein_id": "ENSP00000396511.3",
"transcript_support_level": 1,
"aa_start": 94,
"aa_end": null,
"aa_length": 163,
"cds_start": 281,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431415.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398495.1",
"protein_id": "NP_001385424.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398495.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398496.1",
"protein_id": "NP_001385425.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398496.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398497.1",
"protein_id": "NP_001385426.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398497.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398498.1",
"protein_id": "NP_001385427.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398498.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398499.1",
"protein_id": "NP_001385428.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398499.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398500.1",
"protein_id": "NP_001385429.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398500.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398501.1",
"protein_id": "NP_001385430.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398501.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398502.1",
"protein_id": "NP_001385431.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398502.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398503.1",
"protein_id": "NP_001385432.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398503.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398504.1",
"protein_id": "NP_001385433.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398504.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398505.1",
"protein_id": "NP_001385434.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398505.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398506.1",
"protein_id": "NP_001385435.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398506.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_001398507.1",
"protein_id": "NP_001385436.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001398507.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "NM_033503.4",
"protein_id": "NP_277038.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_033503.4"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000874092.1",
"protein_id": "ENSP00000544151.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874092.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln",
"transcript": "ENST00000874093.1",
"protein_id": "ENSP00000544152.1",
"transcript_support_level": null,
"aa_start": 94,
"aa_end": null,
"aa_length": 184,
"cds_start": 281,
"cds_end": null,
"cds_length": 555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000874093.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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"protein_id": "ENSP00000452660.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 12,
"cds_start": null,
"cds_end": null,
"cds_length": 39,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560430.1"
}
],
"gene_symbol": "BMF",
"gene_hgnc_id": 24132,
"dbsnp": "rs575806674",
"frequency_reference_population": 0.0000049781647,
"hom_count_reference_population": 0,
"allele_count_reference_population": 8,
"gnomad_exomes_af": 0.00000343713,
"gnomad_genomes_af": 0.0000196956,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.4096800982952118,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.591,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2124,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.16,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.202,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 1,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_033503.4",
"gene_symbol": "BMF",
"hgnc_id": 24132,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.281G>A",
"hgvs_p": "p.Arg94Gln"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}