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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: 11-2909219-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2909219&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2909219,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001315501.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "NM_002555.6",
"protein_id": "NP_002546.3",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000649076.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002555.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000649076.2",
"protein_id": "ENSP00000497561.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002555.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000649076.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000347936.6",
"protein_id": "ENSP00000307859.2",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347936.6"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000380574.5",
"protein_id": "ENSP00000369948.1",
"transcript_support_level": 1,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000380574.5"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174Gln",
"transcript": "NM_001315501.2",
"protein_id": "NP_001302430.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 509,
"cds_start": 521,
"cds_end": null,
"cds_length": 1530,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001315501.2"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000948726.1",
"protein_id": "ENSP00000618785.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 500,
"cds_start": 266,
"cds_end": null,
"cds_length": 1503,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948726.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888501.1",
"protein_id": "ENSP00000558560.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 450,
"cds_start": 266,
"cds_end": null,
"cds_length": 1353,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888501.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888492.1",
"protein_id": "ENSP00000558551.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 442,
"cds_start": 266,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888492.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888500.1",
"protein_id": "ENSP00000558559.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 442,
"cds_start": 266,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888500.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888505.1",
"protein_id": "ENSP00000558564.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 442,
"cds_start": 266,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888505.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888506.1",
"protein_id": "ENSP00000558565.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 442,
"cds_start": 266,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888506.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888510.1",
"protein_id": "ENSP00000558569.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 442,
"cds_start": 266,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888510.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000948727.1",
"protein_id": "ENSP00000618786.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 442,
"cds_start": 266,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948727.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000948730.1",
"protein_id": "ENSP00000618789.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 442,
"cds_start": 266,
"cds_end": null,
"cds_length": 1329,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948730.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888498.1",
"protein_id": "ENSP00000558557.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 432,
"cds_start": 266,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888498.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888507.1",
"protein_id": "ENSP00000558566.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 432,
"cds_start": 266,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888507.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000948732.1",
"protein_id": "ENSP00000618791.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 432,
"cds_start": 266,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948732.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "NM_183233.3",
"protein_id": "NP_899056.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_183233.3"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888493.1",
"protein_id": "ENSP00000558552.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888493.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888495.1",
"protein_id": "ENSP00000558554.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888495.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888496.1",
"protein_id": "ENSP00000558555.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000888496.1"
},
{
"aa_ref": "R",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.266G>A",
"hgvs_p": "p.Arg89Gln",
"transcript": "ENST00000888497.1",
"protein_id": "ENSP00000558556.1",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 424,
"cds_start": 266,
"cds_end": null,
"cds_length": 1275,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"feature": "ENST00000498244.1"
}
],
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"dbsnp": "rs948403878",
"frequency_reference_population": 0.0000014421919,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 0.00000144219,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 2,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9669466018676758,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.354,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2223,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.806,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001315501.2",
"gene_symbol": "SLC67A1",
"hgnc_id": 10964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.521G>A",
"hgvs_p": "p.Arg174Gln"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}