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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: 8-20148043-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=20148043&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 20148043,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000276373.10",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Leu392Val",
"transcript": "NM_003053.4",
"protein_id": "NP_003044.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 525,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": "ENST00000276373.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Leu392Val",
"transcript": "ENST00000276373.10",
"protein_id": "ENSP00000276373.5",
"transcript_support_level": 1,
"aa_start": 392,
"aa_end": null,
"aa_length": 525,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1371,
"cdna_end": null,
"cdna_length": 2683,
"mane_select": "NM_003053.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Leu360Val",
"transcript": "ENST00000265808.11",
"protein_id": "ENSP00000265808.7",
"transcript_support_level": 1,
"aa_start": 360,
"aa_end": null,
"aa_length": 493,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1458,
"cdna_end": null,
"cdna_length": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Leu392Val",
"transcript": "NM_001135691.3",
"protein_id": "NP_001129163.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 525,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Leu392Val",
"transcript": "ENST00000440926.3",
"protein_id": "ENSP00000387549.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 525,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2956,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1090C>G",
"hgvs_p": "p.Leu364Val",
"transcript": "NM_001438745.1",
"protein_id": "NP_001425674.1",
"transcript_support_level": null,
"aa_start": 364,
"aa_end": null,
"aa_length": 497,
"cds_start": 1090,
"cds_end": null,
"cds_length": 1494,
"cdna_start": 1287,
"cdna_end": null,
"cdna_length": 2599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Leu360Val",
"transcript": "NM_001142324.2",
"protein_id": "NP_001135796.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 493,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1479,
"cdna_end": null,
"cdna_length": 2791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Leu360Val",
"transcript": "NM_001437771.1",
"protein_id": "NP_001424700.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 493,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1275,
"cdna_end": null,
"cdna_length": 2587,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1078C>G",
"hgvs_p": "p.Leu360Val",
"transcript": "ENST00000519026.5",
"protein_id": "ENSP00000429664.1",
"transcript_support_level": 5,
"aa_start": 360,
"aa_end": null,
"aa_length": 493,
"cds_start": 1078,
"cds_end": null,
"cds_length": 1482,
"cdna_start": 1311,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Leu392Val",
"transcript": "NM_001142325.2",
"protein_id": "NP_001135797.1",
"transcript_support_level": null,
"aa_start": 392,
"aa_end": null,
"aa_length": 472,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1575,
"cdna_end": null,
"cdna_length": 2753,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Leu392Val",
"transcript": "ENST00000381608.8",
"protein_id": "ENSP00000371021.4",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 472,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1174,
"cdna_end": null,
"cdna_length": 1419,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Leu392Val",
"transcript": "ENST00000437980.3",
"protein_id": "ENSP00000413361.1",
"transcript_support_level": 5,
"aa_start": 392,
"aa_end": null,
"aa_length": 472,
"cds_start": 1174,
"cds_end": null,
"cds_length": 1419,
"cdna_start": 1645,
"cdna_end": null,
"cdna_length": 2822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "c.994C>G",
"hgvs_p": "p.Leu332Val",
"transcript": "NM_001438746.1",
"protein_id": "NP_001425675.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 465,
"cds_start": 994,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1191,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "n.*118C>G",
"hgvs_p": null,
"transcript": "ENST00000517776.5",
"protein_id": "ENSP00000428001.1",
"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": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "n.513C>G",
"hgvs_p": null,
"transcript": "ENST00000519171.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"hgvs_c": "n.*118C>G",
"hgvs_p": null,
"transcript": "ENST00000517776.5",
"protein_id": "ENSP00000428001.1",
"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": 2770,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC18A1",
"gene_hgnc_id": 10934,
"dbsnp": "rs17092104",
"frequency_reference_population": 0.08915108,
"hom_count_reference_population": 7302,
"allele_count_reference_population": 143808,
"gnomad_exomes_af": 0.0915518,
"gnomad_genomes_af": 0.0661122,
"gnomad_exomes_ac": 133744,
"gnomad_genomes_ac": 10064,
"gnomad_exomes_homalt": 6844,
"gnomad_genomes_homalt": 458,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.003632187843322754,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.05999999865889549,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.454,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.2089,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 6.61,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.06,
"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": "ENST00000276373.10",
"gene_symbol": "SLC18A1",
"hgnc_id": 10934,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1174C>G",
"hgvs_p": "p.Leu392Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}