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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: 1-205810103-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205810103&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 5,
"criteria": [
"PM2",
"BP4_Strong",
"BP7"
],
"effects": [
"synonymous_variant"
],
"gene_symbol": "SLC41A1",
"hgnc_id": 19429,
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": -3,
"transcript": "NM_173854.6",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong,BP7",
"acmg_score": -3,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "C",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.82,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": -0.8199999928474426,
"computational_source_selected": "BayesDel_noAF",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "NM_173854.6",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000367137.4",
"protein_coding": true,
"protein_id": "NP_776253.3",
"strand": false,
"transcript": "NM_173854.6",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 1376,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000367137.4",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_173854.6",
"protein_coding": true,
"protein_id": "ENSP00000356105.3",
"strand": false,
"transcript": "ENST00000367137.4",
"transcript_support_level": 1
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 529,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1590,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911130.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581189.1",
"strand": false,
"transcript": "ENST00000911130.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 525,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4890,
"cdna_start": 1214,
"cds_end": null,
"cds_length": 1578,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948596.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618655.1",
"strand": false,
"transcript": "ENST00000948596.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 523,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1572,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911129.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581188.1",
"strand": false,
"transcript": "ENST00000911129.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 1049,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911126.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581185.1",
"strand": false,
"transcript": "ENST00000911126.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 1058,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911127.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581186.1",
"strand": false,
"transcript": "ENST00000911127.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4996,
"cdna_start": 1353,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911128.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581187.1",
"strand": false,
"transcript": "ENST00000911128.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000937879.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000607938.1",
"strand": false,
"transcript": "ENST00000937879.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4864,
"cdna_start": 1219,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948595.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618654.1",
"strand": false,
"transcript": "ENST00000948595.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1016,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948598.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618657.1",
"strand": false,
"transcript": "ENST00000948598.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5302,
"cdna_start": 1660,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000948599.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618658.1",
"strand": false,
"transcript": "ENST00000948599.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 1383,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948600.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618659.1",
"strand": false,
"transcript": "ENST00000948600.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 511,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4973,
"cdna_start": 1336,
"cds_end": null,
"cds_length": 1536,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948594.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618653.1",
"strand": false,
"transcript": "ENST00000948594.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 503,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4822,
"cdna_start": 1211,
"cds_end": null,
"cds_length": 1512,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 11,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000948597.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618656.1",
"strand": false,
"transcript": "ENST00000948597.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 477,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": 1338,
"cds_end": null,
"cds_length": 1434,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911124.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581183.1",
"strand": false,
"transcript": "ENST00000911124.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 464,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 1213,
"cds_end": null,
"cds_length": 1395,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000911125.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000581184.1",
"strand": false,
"transcript": "ENST00000911125.1",
"transcript_support_level": null
},
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "T",
"aa_start": 113,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4628,
"cdna_start": 987,
"cds_end": null,
"cds_length": 1542,
"cds_start": 339,
"consequences": [
"synonymous_variant"
],
"exon_count": 10,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "XM_047416887.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.339C>G",
"hgvs_p": "p.Thr113Thr",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "XP_047272843.1",
"strand": false,
"transcript": "XM_047416887.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 843,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"downstream_gene_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000484000.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "n.*196C>G",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000484000.1",
"transcript_support_level": 3
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs11240569",
"effect": "synonymous_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"gnomad_exomes_ac": null,
"gnomad_exomes_af": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_ac": null,
"gnomad_genomes_af": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": null,
"phenotype_combined": null,
"phylop100way_prediction": "Benign",
"phylop100way_score": -1.336,
"pos": 205810103,
"ref": "G",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0.03999999910593033,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0.04,
"transcript": "NM_173854.6"
}
]
}