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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: 12-49185102-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=49185102&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 49185102,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000301071.12",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "NM_006009.4",
"protein_id": "NP_006000.2",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 451,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "ENST00000301071.12",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "ENST00000301071.12",
"protein_id": "ENSP00000301071.7",
"transcript_support_level": 1,
"aa_start": 422,
"aa_end": null,
"aa_length": 451,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1365,
"cdna_end": null,
"cdna_length": 1672,
"mane_select": "NM_006009.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"transcript": "ENST00000550767.6",
"protein_id": "ENSP00000446637.1",
"transcript_support_level": 1,
"aa_start": 387,
"aa_end": null,
"aa_length": 416,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1446,
"cdna_end": null,
"cdna_length": 1777,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "NM_001270399.2",
"protein_id": "NP_001257328.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 451,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1925,
"cdna_end": null,
"cdna_length": 2232,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "ENST00000295766.9",
"protein_id": "ENSP00000439020.2",
"transcript_support_level": 2,
"aa_start": 422,
"aa_end": null,
"aa_length": 451,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1744,
"cdna_end": null,
"cdna_length": 1887,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys",
"transcript": "ENST00000715688.1",
"protein_id": "ENSP00000520499.1",
"transcript_support_level": null,
"aa_start": 422,
"aa_end": null,
"aa_length": 451,
"cds_start": 1264,
"cds_end": null,
"cds_length": 1356,
"cdna_start": 1609,
"cdna_end": null,
"cdna_length": 1940,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"transcript": "NM_001270400.2",
"protein_id": "NP_001257329.1",
"transcript_support_level": null,
"aa_start": 387,
"aa_end": null,
"aa_length": 416,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1453,
"cdna_end": null,
"cdna_length": 1760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"transcript": "ENST00000547939.6",
"protein_id": "ENSP00000450268.2",
"transcript_support_level": 3,
"aa_start": 387,
"aa_end": null,
"aa_length": 416,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1676,
"cdna_end": null,
"cdna_length": 2007,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.1159C>T",
"hgvs_p": "p.Arg387Cys",
"transcript": "ENST00000552924.2",
"protein_id": "ENSP00000448725.2",
"transcript_support_level": 2,
"aa_start": 387,
"aa_end": null,
"aa_length": 416,
"cds_start": 1159,
"cds_end": null,
"cds_length": 1251,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 1782,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "n.2297C>T",
"hgvs_p": null,
"transcript": "ENST00000550811.2",
"protein_id": null,
"transcript_support_level": 4,
"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": 2628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"hgvs_c": "c.*720C>T",
"hgvs_p": null,
"transcript": "ENST00000679733.1",
"protein_id": "ENSP00000505459.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 188,
"cds_start": -4,
"cds_end": null,
"cds_length": 567,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1802,
"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": "TUBA1B-AS1",
"gene_hgnc_id": 56356,
"hgvs_c": "n.474-3181G>A",
"hgvs_p": null,
"transcript": "ENST00000656133.1",
"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": 675,
"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": "TUBA1B-AS1",
"gene_hgnc_id": 56356,
"hgvs_c": "n.345-76G>A",
"hgvs_p": null,
"transcript": "ENST00000811789.1",
"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": 485,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "TUBA1A",
"gene_hgnc_id": 20766,
"dbsnp": "rs137853049",
"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": 0.9586158990859985,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.915,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9989,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.39,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.837,
"phylop100way_prediction": "Uncertain_significance",
"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": 19,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PM1,PM2,PM5,PP2,PP3_Strong,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 19,
"benign_score": 0,
"pathogenic_score": 19,
"criteria": [
"PM1",
"PM2",
"PM5",
"PP2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000301071.12",
"gene_symbol": "TUBA1A",
"hgnc_id": 20766,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.1264C>T",
"hgvs_p": "p.Arg422Cys"
},
{
"score": 14,
"benign_score": 0,
"pathogenic_score": 14,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000656133.1",
"gene_symbol": "TUBA1B-AS1",
"hgnc_id": 56356,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.474-3181G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Inborn genetic diseases,Lissencephaly due to TUBA1A mutation,Tubulinopathy,not provided",
"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:6 LP:1",
"phenotype_combined": "Lissencephaly due to TUBA1A mutation|Inborn genetic diseases|not provided|Tubulinopathy",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}