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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: 1-183529400-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=183529400&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 6,
"criteria": [
"BP4_Moderate",
"BS2"
],
"effects": [
"missense_variant",
"splice_region_variant"
],
"gene_symbol": "SMG7",
"hgnc_id": 16792,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"inheritance_mode": "AD",
"pathogenic_score": 0,
"score": -6,
"transcript": "NM_001350220.2",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_score": -6,
"allele_count_reference_population": 110,
"alphamissense_prediction": null,
"alphamissense_score": 0.3813,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.11,
"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": 0.15410757064819336,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 832,
"cds_end": null,
"cds_length": 3564,
"cds_start": 710,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375584.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000688051.1",
"protein_coding": true,
"protein_id": "NP_001362513.1",
"strand": true,
"transcript": "NM_001375584.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1187,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 5946,
"cdna_start": 832,
"cds_end": null,
"cds_length": 3564,
"cds_start": 710,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000688051.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_001375584.1",
"protein_coding": true,
"protein_id": "ENSP00000510175.1",
"strand": true,
"transcript": "ENST00000688051.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4642,
"cdna_start": 828,
"cds_end": null,
"cds_length": 3537,
"cds_start": 710,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000507469.5",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000425133.1",
"strand": true,
"transcript": "ENST00000507469.5",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1137,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5788,
"cdna_start": 829,
"cds_end": null,
"cds_length": 3414,
"cds_start": 710,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000347615.6",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000340766.2",
"strand": true,
"transcript": "ENST00000347615.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1091,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5629,
"cdna_start": 804,
"cds_end": null,
"cds_length": 3276,
"cds_start": 710,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000515829.6",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000421358.2",
"strand": true,
"transcript": "ENST00000515829.6",
"transcript_support_level": 1
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6222,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 3651,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350220.2",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337149.1",
"strand": true,
"transcript": "NM_001350220.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6085,
"cdna_start": 971,
"cds_end": null,
"cds_length": 3651,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001394133.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381062.1",
"strand": true,
"transcript": "NM_001394133.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1216,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6204,
"cdna_start": 1107,
"cds_end": null,
"cds_length": 3651,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000685780.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000508915.1",
"strand": true,
"transcript": "ENST00000685780.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1178,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4649,
"cdna_start": 832,
"cds_end": null,
"cds_length": 3537,
"cds_start": 710,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_201569.3",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_963863.2",
"strand": true,
"transcript": "NM_201569.3",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1177,
"aa_ref": "R",
"aa_start": 227,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6458,
"cdna_start": 1344,
"cds_end": null,
"cds_length": 3534,
"cds_start": 680,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000920481.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.680G>A",
"hgvs_p": "p.Arg227Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000590540.1",
"strand": true,
"transcript": "ENST00000920481.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5947,
"cdna_start": 971,
"cds_end": null,
"cds_length": 3513,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001331007.2",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001317936.1",
"strand": true,
"transcript": "NM_001331007.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6084,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 3513,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001350221.2",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337150.1",
"strand": true,
"transcript": "NM_001350221.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1170,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5970,
"cdna_start": 992,
"cds_end": null,
"cds_length": 3513,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000367537.7",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356507.3",
"strand": true,
"transcript": "ENST00000367537.7",
"transcript_support_level": 5
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6250,
"cdna_start": 1286,
"cds_end": null,
"cds_length": 3501,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 25,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001394134.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381063.1",
"strand": true,
"transcript": "NM_001394134.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5935,
"cdna_start": 971,
"cds_end": null,
"cds_length": 3501,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001394135.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381064.1",
"strand": true,
"transcript": "NM_001394135.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1166,
"aa_ref": "R",
"aa_start": 266,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6072,
"cdna_start": 1108,
"cds_end": null,
"cds_length": 3501,
"cds_start": 797,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "NM_001394136.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Arg266Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381065.1",
"strand": true,
"transcript": "NM_001394136.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5914,
"cdna_start": 800,
"cds_end": null,
"cds_length": 3438,
"cds_start": 584,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001174061.2",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001167532.1",
"strand": true,
"transcript": "NM_001174061.2",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 6190,
"cdna_start": 1076,
"cds_end": null,
"cds_length": 3438,
"cds_start": 584,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 24,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "NM_001394137.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001381066.1",
"strand": true,
"transcript": "NM_001394137.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1145,
"aa_ref": "R",
"aa_start": 195,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3985,
"cdna_start": 799,
"cds_end": null,
"cds_length": 3438,
"cds_start": 584,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 22,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000508461.5",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.584G>A",
"hgvs_p": "p.Arg195Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000426915.1",
"strand": true,
"transcript": "ENST00000508461.5",
"transcript_support_level": 2
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1141,
"aa_ref": "R",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5808,
"cdna_start": 832,
"cds_end": null,
"cds_length": 3426,
"cds_start": 710,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_count": 23,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_001375585.1",
"gene_hgnc_id": 16792,
"gene_symbol": "SMG7",
"hgvs_c": "c.710G>A",
"hgvs_p": "p.Arg237Gln",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001362514.1",
"strand": true,
"transcript": "NM_001375585.1",
"transcript_support_level": null
},
{
"aa_alt": "Q",
"aa_end": null,
"aa_length": 1137,
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