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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: 15-34792417-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=34792417&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 34792417,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000290378.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "NM_005159.5",
"protein_id": "NP_005150.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 377,
"cds_start": 607,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": "ENST00000290378.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "ENST00000290378.6",
"protein_id": "ENSP00000290378.4",
"transcript_support_level": 1,
"aa_start": 203,
"aa_end": null,
"aa_length": 377,
"cds_start": 607,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1382,
"mane_select": "NM_005159.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.718G>C",
"hgvs_p": "p.Val240Leu",
"transcript": "ENST00000713613.1",
"protein_id": "ENSP00000518909.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 414,
"cds_start": 718,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 784,
"cdna_end": null,
"cdna_length": 1498,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "NM_001406482.1",
"protein_id": "NP_001393411.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 377,
"cds_start": 607,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 707,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "NM_001406483.1",
"protein_id": "NP_001393412.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 377,
"cds_start": 607,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1021,
"cdna_end": null,
"cdna_length": 1730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "ENST00000713610.1",
"protein_id": "ENSP00000518905.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 377,
"cds_start": 607,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 815,
"cdna_end": null,
"cdna_length": 1504,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "ENST00000713615.1",
"protein_id": "ENSP00000518911.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 377,
"cds_start": 607,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1435,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.472G>C",
"hgvs_p": "p.Val158Leu",
"transcript": "NM_001406484.1",
"protein_id": "NP_001393413.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 332,
"cds_start": 472,
"cds_end": null,
"cds_length": 999,
"cdna_start": 754,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "ENST00000713616.1",
"protein_id": "ENSP00000518912.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 313,
"cds_start": 607,
"cds_end": null,
"cds_length": 942,
"cdna_start": 673,
"cdna_end": null,
"cdna_length": 1190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.166G>C",
"hgvs_p": "p.Val56Leu",
"transcript": "NM_001406485.1",
"protein_id": "NP_001393414.1",
"transcript_support_level": null,
"aa_start": 56,
"aa_end": null,
"aa_length": 230,
"cds_start": 166,
"cds_end": null,
"cds_length": 693,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 1410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu",
"transcript": "XM_047432979.1",
"protein_id": "XP_047288935.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 377,
"cds_start": 607,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1036,
"cdna_end": null,
"cdna_length": 1745,
"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": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.297G>C",
"hgvs_p": null,
"transcript": "ENST00000557860.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 636,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.713G>C",
"hgvs_p": null,
"transcript": "ENST00000560563.2",
"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": 2339,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.701G>C",
"hgvs_p": null,
"transcript": "ENST00000647798.1",
"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": 1410,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.764G>C",
"hgvs_p": null,
"transcript": "ENST00000648556.1",
"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": 805,
"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": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.687G>C",
"hgvs_p": null,
"transcript": "ENST00000650163.1",
"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": 1396,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.607G>C",
"hgvs_p": null,
"transcript": "ENST00000713608.1",
"protein_id": "ENSP00000518903.1",
"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": 1505,
"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": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"hgvs_c": "n.607G>C",
"hgvs_p": null,
"transcript": "ENST00000713617.1",
"protein_id": "ENSP00000518913.1",
"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": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GJD2-DT",
"gene_hgnc_id": 55560,
"hgvs_c": "n.299+14986C>G",
"hgvs_p": null,
"transcript": "ENST00000503496.6",
"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": 3088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "GJD2-DT",
"gene_hgnc_id": 55560,
"hgvs_c": "n.139-18079C>G",
"hgvs_p": null,
"transcript": "ENST00000671663.2",
"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": 3148,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "GJD2-DT",
"gene_hgnc_id": 55560,
"hgvs_c": "n.299+14986C>G",
"hgvs_p": null,
"transcript": "NR_120329.1",
"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": 2727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ACTC1",
"gene_hgnc_id": 143,
"dbsnp": "rs1060502822",
"frequency_reference_population": 6.84046e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84046e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.04044199362397194,
"computational_prediction_selected": "Benign",
"computational_source_selected": "CardioboostCm",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.6,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.7176,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.23,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.568,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"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": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000290378.6",
"gene_symbol": "ACTC1",
"hgnc_id": 143,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.607G>C",
"hgvs_p": "p.Val203Leu"
},
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000503496.6",
"gene_symbol": "GJD2-DT",
"hgnc_id": 55560,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.299+14986C>G",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}