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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: 8-144412564-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144412564&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144412564,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_130849.4",
"consequences": [
{
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Leu640Val",
"transcript": "NM_130849.4",
"protein_id": "NP_570901.3",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 647,
"cds_start": 1918,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": "ENST00000301305.8",
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Leu640Val",
"transcript": "ENST00000301305.8",
"protein_id": "ENSP00000301305.4",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 647,
"cds_start": 1918,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1973,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": "NM_130849.4",
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "n.518C>G",
"hgvs_p": null,
"transcript": "ENST00000532718.5",
"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": 668,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Leu615Val",
"transcript": "NM_017767.3",
"protein_id": "NP_060237.3",
"transcript_support_level": null,
"aa_start": 615,
"aa_end": null,
"aa_length": 622,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2084,
"cdna_end": null,
"cdna_length": 2234,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "c.1843C>G",
"hgvs_p": "p.Leu615Val",
"transcript": "ENST00000276833.9",
"protein_id": "ENSP00000276833.5",
"transcript_support_level": 2,
"aa_start": 615,
"aa_end": null,
"aa_length": 622,
"cds_start": 1843,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2147,
"cdna_end": null,
"cdna_length": 2297,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "c.1636C>G",
"hgvs_p": "p.Leu546Val",
"transcript": "NM_001374839.1",
"protein_id": "NP_001361768.1",
"transcript_support_level": null,
"aa_start": 546,
"aa_end": null,
"aa_length": 553,
"cds_start": 1636,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1691,
"cdna_end": null,
"cdna_length": 1841,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "c.424C>G",
"hgvs_p": "p.Leu142Val",
"transcript": "NM_001280557.2",
"protein_id": "NP_001267486.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 149,
"cds_start": 424,
"cds_end": null,
"cds_length": 450,
"cdna_start": 517,
"cdna_end": null,
"cdna_length": 667,
"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": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "c.1483C>G",
"hgvs_p": "p.Leu495Val",
"transcript": "XM_024447189.2",
"protein_id": "XP_024302957.1",
"transcript_support_level": null,
"aa_start": 495,
"aa_end": null,
"aa_length": 502,
"cds_start": 1483,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1538,
"cdna_end": null,
"cdna_length": 1688,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "n.503C>G",
"hgvs_p": null,
"transcript": "ENST00000527148.5",
"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,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "n.609C>G",
"hgvs_p": null,
"transcript": "ENST00000529462.5",
"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": 2778,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "n.348C>G",
"hgvs_p": null,
"transcript": "ENST00000530807.5",
"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": 498,
"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": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"hgvs_c": "n.646C>G",
"hgvs_p": null,
"transcript": "ENST00000531013.1",
"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": 795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC39A4",
"gene_hgnc_id": 17129,
"dbsnp": "rs1554871788",
"frequency_reference_population": 6.840507e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84051e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11055886745452881,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.054,
"revel_prediction": "Benign",
"alphamissense_score": 0.0889,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.618,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_130849.4",
"gene_symbol": "SLC39A4",
"hgnc_id": 17129,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1918C>G",
"hgvs_p": "p.Leu640Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}