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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: 11-2903361-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=2903361&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 2903361,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000649076.2",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_002555.6",
"protein_id": "NP_002546.3",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 16,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": "ENST00000649076.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A18",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000649076.2",
"protein_id": "ENSP00000497561.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 16,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1543,
"mane_select": "NM_002555.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A18",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000347936.6",
"protein_id": "ENSP00000307859.2",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 16,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 234,
"cdna_end": null,
"cdna_length": 1542,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A18",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000380574.5",
"protein_id": "ENSP00000369948.1",
"transcript_support_level": 1,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 16,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A18AS",
"gene_hgnc_id": 10965,
"hgvs_c": "n.356+98C>T",
"hgvs_p": null,
"transcript": "ENST00000455942.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A18AS",
"gene_hgnc_id": 10965,
"hgvs_c": "n.117+98C>T",
"hgvs_p": null,
"transcript": "ENST00000625099.4",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Ala91Thr",
"transcript": "NM_001315501.2",
"protein_id": "NP_001302430.1",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 509,
"cds_start": 271,
"cds_end": null,
"cds_length": 1530,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 1755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_183233.3",
"protein_id": "NP_899056.2",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 16,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 264,
"cdna_end": null,
"cdna_length": 1572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "NM_001315502.2",
"protein_id": "NP_001302431.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 326,
"cds_start": 16,
"cds_end": null,
"cds_length": 981,
"cdna_start": 235,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A18",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000449793.6",
"protein_id": "ENSP00000392072.2",
"transcript_support_level": 5,
"aa_start": 6,
"aa_end": null,
"aa_length": 326,
"cds_start": 16,
"cds_end": null,
"cds_length": 981,
"cdna_start": 230,
"cdna_end": null,
"cdna_length": 1225,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A18",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "ENST00000485423.1",
"protein_id": "ENSP00000433019.1",
"transcript_support_level": 2,
"aa_start": 6,
"aa_end": null,
"aa_length": 133,
"cds_start": 16,
"cds_end": null,
"cds_length": 403,
"cdna_start": 248,
"cdna_end": null,
"cdna_length": 635,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr",
"transcript": "XM_047427033.1",
"protein_id": "XP_047282989.1",
"transcript_support_level": null,
"aa_start": 6,
"aa_end": null,
"aa_length": 424,
"cds_start": 16,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 318,
"cdna_end": null,
"cdna_length": 1626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Ala91Thr",
"transcript": "XM_011520141.3",
"protein_id": "XP_011518443.2",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 386,
"cds_start": 271,
"cds_end": null,
"cds_length": 1161,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3369,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC67A1",
"gene_hgnc_id": 10964,
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Ala91Thr",
"transcript": "XM_011520142.3",
"protein_id": "XP_011518444.2",
"transcript_support_level": null,
"aa_start": 91,
"aa_end": null,
"aa_length": 379,
"cds_start": 271,
"cds_end": null,
"cds_length": 1140,
"cdna_start": 447,
"cdna_end": null,
"cdna_length": 3348,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC22A18AS",
"gene_hgnc_id": 10965,
"hgvs_c": "n.355+98C>T",
"hgvs_p": null,
"transcript": "ENST00000702349.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1647,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC67A1-AS",
"gene_hgnc_id": 10965,
"hgvs_c": "n.117+98C>T",
"hgvs_p": null,
"transcript": "NR_169304.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SLC67A1-AS",
"gene_hgnc_id": 10965,
"hgvs_c": "n.117+98C>T",
"hgvs_p": null,
"transcript": "NR_169305.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 1535,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A18",
"gene_hgnc_id": 10964,
"hgvs_c": "n.-15G>A",
"hgvs_p": null,
"transcript": "ENST00000492567.2",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC22A18AS",
"gene_hgnc_id": 10965,
"hgvs_c": "n.-103C>T",
"hgvs_p": null,
"transcript": "ENST00000779223.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1216,
"mane_select": null,
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"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC22A18",
"gene_hgnc_id": 10964,
"dbsnp": "rs1048046",
"frequency_reference_population": 0.17794879,
"hom_count_reference_population": 27823,
"allele_count_reference_population": 286941,
"gnomad_exomes_af": 0.175787,
"gnomad_genomes_af": 0.198712,
"gnomad_exomes_ac": 256728,
"gnomad_genomes_ac": 30213,
"gnomad_exomes_homalt": 24382,
"gnomad_genomes_homalt": 3441,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.015569567680358887,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.048,
"revel_prediction": "Benign",
"alphamissense_score": 0.09,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.474,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000649076.2",
"gene_symbol": "SLC22A18",
"hgnc_id": 10964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.16G>A",
"hgvs_p": "p.Ala6Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001315501.2",
"gene_symbol": "SLC67A1",
"hgnc_id": 10964,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.271G>A",
"hgvs_p": "p.Ala91Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000455942.5",
"gene_symbol": "SLC22A18AS",
"hgnc_id": 10965,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.356+98C>T",
"hgvs_p": null
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NR_169304.1",
"gene_symbol": "SLC67A1-AS",
"hgnc_id": 10965,
"effects": [
"intron_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "n.117+98C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}