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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: 5-156344662-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=156344662&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 156344662,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_000337.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "NM_000337.6",
"protein_id": "NP_000328.2",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 290,
"cds_start": 177,
"cds_end": null,
"cds_length": 873,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 9383,
"mane_select": "ENST00000337851.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "ENST00000337851.9",
"protein_id": "ENSP00000338343.4",
"transcript_support_level": 1,
"aa_start": 59,
"aa_end": null,
"aa_length": 290,
"cds_start": 177,
"cds_end": null,
"cds_length": 873,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 9383,
"mane_select": "NM_000337.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Val58Val",
"transcript": "ENST00000435422.7",
"protein_id": "ENSP00000403003.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 289,
"cds_start": 174,
"cds_end": null,
"cds_length": 870,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 9755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Val58Val",
"transcript": "NM_001128209.2",
"protein_id": "NP_001121681.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 289,
"cds_start": 174,
"cds_end": null,
"cds_length": 870,
"cdna_start": 243,
"cdna_end": null,
"cdna_length": 9337,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "NM_172244.3",
"protein_id": "NP_758447.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 256,
"cds_start": 177,
"cds_end": null,
"cds_length": 771,
"cdna_start": 289,
"cdna_end": null,
"cdna_length": 1166,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "ENST00000517913.5",
"protein_id": "ENSP00000429378.1",
"transcript_support_level": 5,
"aa_start": 59,
"aa_end": null,
"aa_length": 256,
"cds_start": 177,
"cds_end": null,
"cds_length": 771,
"cdna_start": 539,
"cdna_end": null,
"cdna_length": 1412,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "XM_005265966.6",
"protein_id": "XP_005266023.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 290,
"cds_start": 177,
"cds_end": null,
"cds_length": 873,
"cdna_start": 522,
"cdna_end": null,
"cdna_length": 9616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "XM_017009724.2",
"protein_id": "XP_016865213.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 290,
"cds_start": 177,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1134,
"cdna_end": null,
"cdna_length": 10228,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "XM_047417518.1",
"protein_id": "XP_047273474.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 290,
"cds_start": 177,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1273,
"cdna_end": null,
"cdna_length": 10367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "XM_047417519.1",
"protein_id": "XP_047273475.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 290,
"cds_start": 177,
"cds_end": null,
"cds_length": 873,
"cdna_start": 1624,
"cdna_end": null,
"cdna_length": 10718,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.174C>T",
"hgvs_p": "p.Val58Val",
"transcript": "XM_047417520.1",
"protein_id": "XP_047273476.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 289,
"cds_start": 174,
"cds_end": null,
"cds_length": 870,
"cdna_start": 1018,
"cdna_end": null,
"cdna_length": 10112,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val",
"transcript": "XM_005265967.3",
"protein_id": "XP_005266024.1",
"transcript_support_level": null,
"aa_start": 59,
"aa_end": null,
"aa_length": 175,
"cds_start": 177,
"cds_end": null,
"cds_length": 528,
"cdna_start": 289,
"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": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"hgvs_c": "n.177C>T",
"hgvs_p": null,
"transcript": "ENST00000524347.2",
"protein_id": "ENSP00000430794.1",
"transcript_support_level": 5,
"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": 739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "LOC124901120",
"gene_hgnc_id": null,
"hgvs_c": "n.234+2791G>A",
"hgvs_p": null,
"transcript": "XR_007059016.1",
"protein_id": null,
"transcript_support_level": null,
"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": 300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SGCD",
"gene_hgnc_id": 10807,
"dbsnp": "rs727505265",
"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": -0.3499999940395355,
"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": -0.35,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.591,
"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": -9,
"acmg_classification": "Benign",
"acmg_criteria": "PM2,BP4_Moderate,BP6_Very_Strong,BP7",
"acmg_by_gene": [
{
"score": -9,
"benign_score": 11,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong",
"BP7"
],
"verdict": "Benign",
"transcript": "NM_000337.6",
"gene_symbol": "SGCD",
"hgnc_id": 10807,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AR,AD",
"hgvs_c": "c.177C>T",
"hgvs_p": "p.Val59Val"
},
{
"score": -8,
"benign_score": 10,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP6_Very_Strong"
],
"verdict": "Benign",
"transcript": "XR_007059016.1",
"gene_symbol": "LOC124901120",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.234+2791G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2F,Dilated cardiomyopathy 1L,not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:3",
"phenotype_combined": "not specified|Autosomal recessive limb-girdle muscular dystrophy type 2F|Dilated cardiomyopathy 1L|Autosomal recessive limb-girdle muscular dystrophy type 2F;Dilated cardiomyopathy 1L",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}