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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: 1-205794907-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=205794907&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 1,
"criteria": [
"PM2",
"BP4"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SLC41A1",
"hgnc_id": 19429,
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"inheritance_mode": "AR,Unknown",
"pathogenic_score": 2,
"score": 1,
"transcript": "NM_173854.6",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_score": 1,
"allele_count_reference_population": 73,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.0835,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.19,
"chr": "1",
"clinvar_classification": "Uncertain significance",
"clinvar_disease": "not specified",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.27914494276046753,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "T",
"aa_end": null,
"aa_length": 513,
"aa_ref": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_173854.6",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5017,
"cdna_start": 2356,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000367137.4",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 456,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2491,
"cdna_start": 2239,
"cds_end": null,
"cds_length": 1590,
"cds_start": 1367,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911130.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1367T>C",
"hgvs_p": "p.Ile456Thr",
"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": "I",
"aa_start": 452,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4890,
"cdna_start": 2230,
"cds_end": null,
"cds_length": 1578,
"cds_start": 1355,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000948596.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1355T>C",
"hgvs_p": "p.Ile452Thr",
"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": "I",
"aa_start": 450,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 2221,
"cds_end": null,
"cds_length": 1572,
"cds_start": 1349,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911129.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1349T>C",
"hgvs_p": "p.Ile450Thr",
"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": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4688,
"cdna_start": 2029,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911126.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4701,
"cdna_start": 2038,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911127.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4996,
"cdna_start": 2333,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000911128.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4985,
"cdna_start": 2324,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000937879.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4864,
"cdna_start": 2199,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000948595.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3080,
"cdna_start": 1996,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000948598.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5302,
"cdna_start": 2640,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000948599.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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
},
{
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"aa_length": 513,
"aa_ref": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5028,
"cdna_start": 2363,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000948600.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": "I",
"aa_start": 438,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4973,
"cdna_start": 2310,
"cds_end": null,
"cds_length": 1536,
"cds_start": 1313,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000948594.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1313T>C",
"hgvs_p": "p.Ile438Thr",
"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",
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"aa_length": 503,
"aa_ref": "I",
"aa_start": 430,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4822,
"cdna_start": 2161,
"cds_end": null,
"cds_length": 1512,
"cds_start": 1289,
"consequences": [
"missense_variant"
],
"exon_count": 11,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000948597.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1289T>C",
"hgvs_p": "p.Ile430Thr",
"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": "I",
"aa_start": 404,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4871,
"cdna_start": 2210,
"cds_end": null,
"cds_length": 1434,
"cds_start": 1211,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911124.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1211T>C",
"hgvs_p": "p.Ile404Thr",
"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": "I",
"aa_start": 391,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4707,
"cdna_start": 2046,
"cds_end": null,
"cds_length": 1395,
"cds_start": 1172,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000911125.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1172T>C",
"hgvs_p": "p.Ile391Thr",
"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",
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"aa_length": 513,
"aa_ref": "I",
"aa_start": 440,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4628,
"cdna_start": 1967,
"cds_end": null,
"cds_length": 1542,
"cds_start": 1319,
"consequences": [
"missense_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "XM_047416887.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "c.1319T>C",
"hgvs_p": "p.Ile440Thr",
"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": 3777,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 10,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000468057.5",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "n.1115T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000468057.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 2221,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000484228.1",
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"hgvs_c": "n.1385T>C",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000484228.1",
"transcript_support_level": 2
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs201009580",
"effect": "missense_variant",
"frequency_reference_population": 0.000045232384,
"gene_hgnc_id": 19429,
"gene_symbol": "SLC41A1",
"gnomad_exomes_ac": 70,
"gnomad_exomes_af": 0.000047885,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_ac": 3,
"gnomad_genomes_af": 0.0000197301,
"gnomad_genomes_homalt": 0,
"gnomad_mito_heteroplasmic": null,
"gnomad_mito_homoplasmic": null,
"hom_count_reference_population": 0,
"mitotip_prediction": null,
"mitotip_score": null,
"pathogenicity_classification_combined": "Uncertain significance",
"phenotype_combined": "not specified",
"phylop100way_prediction": "Uncertain_significance",
"phylop100way_score": 6.3,
"pos": 205794907,
"ref": "A",
"revel_prediction": "Benign",
"revel_score": 0.212,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_173854.6"
}
]
}