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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: 21-39660813-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=39660813&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 39660813,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000684187.2",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "NM_001356336.2",
"protein_id": "NP_001343265.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 13097,
"mane_select": "ENST00000684187.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000684187.2",
"protein_id": "ENSP00000506797.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 773,
"cdna_end": null,
"cdna_length": 13097,
"mane_select": "NM_001356336.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000380618.5",
"protein_id": "ENSP00000369992.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 687,
"cdna_end": null,
"cdna_length": 2763,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000380620.8",
"protein_id": "ENSP00000369994.3",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 13170,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.266T>C",
"hgvs_p": "p.Met89Thr",
"transcript": "NM_033172.3",
"protein_id": "NP_149362.2",
"transcript_support_level": null,
"aa_start": 89,
"aa_end": null,
"aa_length": 314,
"cds_start": 266,
"cds_end": null,
"cds_length": 945,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 12954,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "NM_001278650.2",
"protein_id": "NP_001265579.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 12866,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "NM_001356338.2",
"protein_id": "NP_001343267.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 13050,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "NM_001356339.2",
"protein_id": "NP_001343268.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 495,
"cdna_end": null,
"cdna_length": 12819,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "NM_006057.3",
"protein_id": "NP_006048.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 681,
"cdna_end": null,
"cdna_length": 13005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "NM_033170.3",
"protein_id": "NP_149360.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 548,
"cdna_end": null,
"cdna_length": 12872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "NM_033171.3",
"protein_id": "NP_149361.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 790,
"cdna_end": null,
"cdna_length": 13114,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000343118.6",
"protein_id": "ENSP00000343318.4",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 506,
"cdna_end": null,
"cdna_length": 1185,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000398714.4",
"protein_id": "ENSP00000381699.4",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 614,
"cdna_end": null,
"cdna_length": 1293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000615480.5",
"protein_id": "ENSP00000480285.1",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 542,
"cdna_end": null,
"cdna_length": 1290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000682542.1",
"protein_id": "ENSP00000507453.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 737,
"cdna_end": null,
"cdna_length": 1416,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000683344.1",
"protein_id": "ENSP00000508165.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
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"cdna_start": 845,
"cdna_end": null,
"cdna_length": 1524,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr",
"transcript": "ENST00000684495.1",
"protein_id": "ENSP00000507285.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 310,
"cds_start": 254,
"cds_end": null,
"cds_length": 933,
"cdna_start": 776,
"cdna_end": null,
"cdna_length": 1455,
"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": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000225330",
"gene_hgnc_id": null,
"hgvs_c": "n.220+30323T>C",
"hgvs_p": null,
"transcript": "ENST00000416555.1",
"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": 544,
"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": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"hgvs_c": "n.493+901T>C",
"hgvs_p": null,
"transcript": "ENST00000682818.1",
"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": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "B3GALT5",
"gene_hgnc_id": 920,
"dbsnp": "rs3746887",
"frequency_reference_population": 0.78499705,
"hom_count_reference_population": 497330,
"allele_count_reference_population": 1251122,
"gnomad_exomes_af": 0.7942,
"gnomad_genomes_af": 0.697668,
"gnomad_exomes_ac": 1145117,
"gnomad_genomes_ac": 106005,
"gnomad_exomes_homalt": 458420,
"gnomad_genomes_homalt": 38910,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.0000011249134104218683,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.01,
"revel_prediction": "Benign",
"alphamissense_score": 0.0735,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.82,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -2.786,
"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": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000684187.2",
"gene_symbol": "B3GALT5",
"hgnc_id": 920,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.254T>C",
"hgvs_p": "p.Met85Thr"
},
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000416555.1",
"gene_symbol": "ENSG00000225330",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.220+30323T>C",
"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
}