← Back to variant description
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: 8-144412579-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=144412579&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 144412579,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_130849.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1903C>T",
"hgvs_p": "p.Leu635Leu",
"transcript": "NM_130849.4",
"protein_id": "NP_570901.3",
"transcript_support_level": null,
"aa_start": 635,
"aa_end": null,
"aa_length": 647,
"cds_start": 1903,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1958,
"cdna_end": null,
"cdna_length": 2123,
"mane_select": "ENST00000301305.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1903C>T",
"hgvs_p": "p.Leu635Leu",
"transcript": "ENST00000301305.8",
"protein_id": "ENSP00000301305.4",
"transcript_support_level": 1,
"aa_start": 635,
"aa_end": null,
"aa_length": 647,
"cds_start": 1903,
"cds_end": null,
"cds_length": 1944,
"cdna_start": 1958,
"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.503C>T",
"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": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1828C>T",
"hgvs_p": "p.Leu610Leu",
"transcript": "NM_017767.3",
"protein_id": "NP_060237.3",
"transcript_support_level": null,
"aa_start": 610,
"aa_end": null,
"aa_length": 622,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2069,
"cdna_end": null,
"cdna_length": 2234,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1828C>T",
"hgvs_p": "p.Leu610Leu",
"transcript": "ENST00000276833.9",
"protein_id": "ENSP00000276833.5",
"transcript_support_level": 2,
"aa_start": 610,
"aa_end": null,
"aa_length": 622,
"cds_start": 1828,
"cds_end": null,
"cds_length": 1869,
"cdna_start": 2132,
"cdna_end": null,
"cdna_length": 2297,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1621C>T",
"hgvs_p": "p.Leu541Leu",
"transcript": "NM_001374839.1",
"protein_id": "NP_001361768.1",
"transcript_support_level": null,
"aa_start": 541,
"aa_end": null,
"aa_length": 553,
"cds_start": 1621,
"cds_end": null,
"cds_length": 1662,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 1841,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.409C>T",
"hgvs_p": "p.Leu137Leu",
"transcript": "NM_001280557.2",
"protein_id": "NP_001267486.1",
"transcript_support_level": null,
"aa_start": 137,
"aa_end": null,
"aa_length": 149,
"cds_start": 409,
"cds_end": null,
"cds_length": 450,
"cdna_start": 502,
"cdna_end": null,
"cdna_length": 667,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_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.1468C>T",
"hgvs_p": "p.Leu490Leu",
"transcript": "XM_024447189.2",
"protein_id": "XP_024302957.1",
"transcript_support_level": null,
"aa_start": 490,
"aa_end": null,
"aa_length": 502,
"cds_start": 1468,
"cds_end": null,
"cds_length": 1509,
"cdna_start": 1523,
"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": [
"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.488C>T",
"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.594C>T",
"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.333C>T",
"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.631C>T",
"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": "rs199706667",
"frequency_reference_population": 0.000027258051,
"hom_count_reference_population": 0,
"allele_count_reference_population": 44,
"gnomad_exomes_af": 0.0000253099,
"gnomad_genomes_af": 0.0000459547,
"gnomad_exomes_ac": 37,
"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.209,
"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": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_130849.4",
"gene_symbol": "SLC39A4",
"hgnc_id": 17129,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1903C>T",
"hgvs_p": "p.Leu635Leu"
}
],
"clinvar_disease": "Hereditary acrodermatitis enteropathica,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided|Hereditary acrodermatitis enteropathica",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}