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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: 2-189562125-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=189562125&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 189562125,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_014585.6",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "NM_014585.6",
"protein_id": "NP_055400.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000261024.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014585.6"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000261024.7",
"protein_id": "ENSP00000261024.3",
"transcript_support_level": 1,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014585.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000261024.7"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000852923.1",
"protein_id": "ENSP00000522982.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852923.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000852924.1",
"protein_id": "ENSP00000522983.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852924.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000852925.1",
"protein_id": "ENSP00000522984.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852925.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"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": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000852926.1",
"protein_id": "ENSP00000522985.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852926.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000852927.1",
"protein_id": "ENSP00000522986.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852927.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000852928.1",
"protein_id": "ENSP00000522987.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852928.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000972158.1",
"protein_id": "ENSP00000642217.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972158.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp",
"transcript": "ENST00000972159.1",
"protein_id": "ENSP00000642218.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 571,
"cds_start": 1469,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972159.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1463G>A",
"hgvs_p": "p.Gly488Asp",
"transcript": "ENST00000972160.1",
"protein_id": "ENSP00000642219.1",
"transcript_support_level": null,
"aa_start": 488,
"aa_end": null,
"aa_length": 569,
"cds_start": 1463,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000972160.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1193G>A",
"hgvs_p": "p.Gly398Asp",
"transcript": "ENST00000852929.1",
"protein_id": "ENSP00000522988.1",
"transcript_support_level": null,
"aa_start": 398,
"aa_end": null,
"aa_length": 479,
"cds_start": 1193,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000852929.1"
},
{
"aa_ref": "G",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"hgvs_c": "c.1349G>A",
"hgvs_p": "p.Gly450Asp",
"transcript": "XM_047444066.1",
"protein_id": "XP_047300022.1",
"transcript_support_level": null,
"aa_start": 450,
"aa_end": null,
"aa_length": 531,
"cds_start": 1349,
"cds_end": null,
"cds_length": 1596,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047444066.1"
}
],
"gene_symbol": "SLC40A1",
"gene_hgnc_id": 10909,
"dbsnp": "rs1060501102",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9803775548934937,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.866,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9952,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PM2",
"PM5",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_014585.6",
"gene_symbol": "SLC40A1",
"hgnc_id": 10909,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.1469G>A",
"hgvs_p": "p.Gly490Asp"
}
],
"clinvar_disease": "Hemochromatosis type 4,SLC40A1-related disorder",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Hemochromatosis type 4|SLC40A1-related disorder",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}