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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: 12-49185109-TGA-AAG (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49185109&ref=TGA&alt=AAG&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PS1_Very_Strong",
"PM1",
"PP2",
"PP3"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TUBA1A",
"hgnc_id": 20766,
"hgvs_c": "c.1255_1257delTCAinsCTT",
"hgvs_p": "p.Ser419Leu",
"inheritance_mode": "AD",
"pathogenic_score": 12,
"score": 12,
"transcript": "NM_006009.4",
"verdict": "Pathogenic"
},
{
"benign_score": 0,
"criteria": [
"PP3"
],
"effects": [
"intron_variant"
],
"gene_symbol": "TUBA1B-AS1",
"hgnc_id": 56356,
"hgvs_c": "n.474-3174_474-3172delTGAinsAAG",
"hgvs_p": null,
"inheritance_mode": "",
"pathogenic_score": 1,
"score": 1,
"transcript": "ENST00000656133.1",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Pathogenic",
"acmg_criteria": "PS1_Very_Strong,PM1,PP2,PP3",
"acmg_score": 12,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": null,
"alt": "AAG",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": null,
"bayesdelnoaf_score": null,
"chr": "12",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": null,
"computational_score_selected": null,
"computational_source_selected": null,
"consequences": [
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 451,
"aa_ref": "S",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_006009.4",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1255_1257delTCAinsCTT",
"hgvs_p": "p.Ser419Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000301071.12",
"protein_coding": true,
"protein_id": "NP_006000.2",
"strand": false,
"transcript": "NM_006009.4",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 451,
"aa_ref": "S",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1672,
"cdna_start": 1358,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000301071.12",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1255_1257delTCAinsCTT",
"hgvs_p": "p.Ser419Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006009.4",
"protein_coding": true,
"protein_id": "ENSP00000301071.7",
"strand": false,
"transcript": "ENST00000301071.12",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "S",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1777,
"cdna_start": 1439,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000550767.6",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1150_1152delTCAinsCTT",
"hgvs_p": "p.Ser384Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000446637.1",
"strand": false,
"transcript": "ENST00000550767.6",
"transcript_support_level": 1
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 451,
"aa_ref": "S",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2232,
"cdna_start": 1918,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270399.2",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1255_1257delTCAinsCTT",
"hgvs_p": "p.Ser419Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257328.1",
"strand": false,
"transcript": "NM_001270399.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 451,
"aa_ref": "S",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1887,
"cdna_start": 1737,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000295766.9",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1255_1257delTCAinsCTT",
"hgvs_p": "p.Ser419Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000439020.2",
"strand": false,
"transcript": "ENST00000295766.9",
"transcript_support_level": 2
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 451,
"aa_ref": "S",
"aa_start": 419,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1940,
"cdna_start": 1602,
"cds_end": null,
"cds_length": 1356,
"cds_start": 1255,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000715688.1",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1255_1257delTCAinsCTT",
"hgvs_p": "p.Ser419Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000520499.1",
"strand": false,
"transcript": "ENST00000715688.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 449,
"aa_ref": "S",
"aa_start": 417,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1666,
"cdna_start": 1352,
"cds_end": null,
"cds_length": 1350,
"cds_start": 1249,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000928854.1",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1249_1251delTCAinsCTT",
"hgvs_p": "p.Ser417Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000598913.1",
"strand": false,
"transcript": "ENST00000928854.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 432,
"aa_ref": "S",
"aa_start": 400,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1616,
"cdna_start": 1301,
"cds_end": null,
"cds_length": 1299,
"cds_start": 1198,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000871057.1",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1198_1200delTCAinsCTT",
"hgvs_p": "p.Ser400Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000541116.1",
"strand": false,
"transcript": "ENST00000871057.1",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "S",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1760,
"cdna_start": 1446,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "NM_001270400.2",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1150_1152delTCAinsCTT",
"hgvs_p": "p.Ser384Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001257329.1",
"strand": false,
"transcript": "NM_001270400.2",
"transcript_support_level": null
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "S",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2007,
"cdna_start": 1669,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000547939.6",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1150_1152delTCAinsCTT",
"hgvs_p": "p.Ser384Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000450268.2",
"strand": false,
"transcript": "ENST00000547939.6",
"transcript_support_level": 3
},
{
"aa_alt": "L",
"aa_end": null,
"aa_length": 416,
"aa_ref": "S",
"aa_start": 384,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1782,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1251,
"cds_start": 1150,
"consequences": [
"missense_variant"
],
"exon_count": 4,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000552924.2",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.1150_1152delTCAinsCTT",
"hgvs_p": "p.Ser384Leu",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000448725.2",
"strand": false,
"transcript": "ENST00000552924.2",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": 188,
"aa_ref": null,
"aa_start": null,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": null,
"cds_end": null,
"cds_length": 567,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 4,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000679733.1",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "c.*711_*713delTCAinsCTT",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000505459.1",
"strand": false,
"transcript": "ENST00000679733.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 2628,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 3,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000550811.2",
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"hgvs_c": "n.2288_2290delTCAinsCTT",
"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": "ENST00000550811.2",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 675,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000656133.1",
"gene_hgnc_id": 56356,
"gene_symbol": "TUBA1B-AS1",
"hgvs_c": "n.474-3174_474-3172delTGAinsAAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000656133.1",
"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": 485,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"intron_variant"
],
"exon_count": 2,
"exon_rank": null,
"exon_rank_end": null,
"feature": "ENST00000811789.1",
"gene_hgnc_id": 56356,
"gene_symbol": "TUBA1B-AS1",
"hgvs_c": "n.345-69_345-67delTGAinsAAG",
"hgvs_p": null,
"intron_rank": 1,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": true,
"transcript": "ENST00000811789.1",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": null,
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 20766,
"gene_symbol": "TUBA1A",
"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": "Pathogenic",
"phylop100way_score": 9.509,
"pos": 49185109,
"ref": "TGA",
"revel_prediction": null,
"revel_score": null,
"splice_prediction_selected": null,
"splice_score_selected": null,
"splice_source_selected": null,
"spliceai_max_prediction": null,
"spliceai_max_score": null,
"transcript": "NM_006009.4"
}
]
}