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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: 19-48333372-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=48333372&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 4,
"criteria": [
"PM2",
"BP4_Strong"
],
"effects": [
"missense_variant"
],
"gene_symbol": "TMEM143",
"hgnc_id": 25603,
"hgvs_c": "c.1227G>C",
"hgvs_p": "p.Glu409Asp",
"inheritance_mode": "AR",
"pathogenic_score": 2,
"score": -2,
"transcript": "NM_018273.4",
"verdict": "Likely_benign"
}
],
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_score": -2,
"allele_count_reference_population": 0,
"alphamissense_prediction": null,
"alphamissense_score": 0.0727,
"alt": "G",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.77,
"chr": "19",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.025374919176101685,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 459,
"aa_ref": "E",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1227,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "NM_018273.4",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1227G>C",
"hgvs_p": "p.Glu409Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000293261.8",
"protein_coding": true,
"protein_id": "NP_060743.2",
"strand": false,
"transcript": "NM_018273.4",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 459,
"aa_ref": "E",
"aa_start": 409,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2263,
"cdna_start": 1247,
"cds_end": null,
"cds_length": 1380,
"cds_start": 1227,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000293261.8",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1227G>C",
"hgvs_p": "p.Glu409Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_018273.4",
"protein_coding": true,
"protein_id": "ENSP00000293261.2",
"strand": false,
"transcript": "ENST00000293261.8",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1960,
"cdna_start": 945,
"cds_end": null,
"cds_length": 1080,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000377431.6",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Glu309Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000366649.1",
"strand": false,
"transcript": "ENST00000377431.6",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 458,
"aa_ref": "E",
"aa_start": 408,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2259,
"cdna_start": 1243,
"cds_end": null,
"cds_length": 1377,
"cds_start": 1224,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000948722.1",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1224G>C",
"hgvs_p": "p.Glu408Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618781.1",
"strand": false,
"transcript": "ENST00000948722.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 457,
"aa_ref": "E",
"aa_start": 407,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2245,
"cdna_start": 1239,
"cds_end": null,
"cds_length": 1374,
"cds_start": 1221,
"consequences": [
"missense_variant"
],
"exon_count": 8,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000893975.1",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1221G>C",
"hgvs_p": "p.Glu407Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564034.1",
"strand": false,
"transcript": "ENST00000893975.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 424,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2158,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1122,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001303538.2",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1122G>C",
"hgvs_p": "p.Glu374Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290467.1",
"strand": false,
"transcript": "NM_001303538.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 424,
"aa_ref": "E",
"aa_start": 374,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2272,
"cdna_start": 1261,
"cds_end": null,
"cds_length": 1275,
"cds_start": 1122,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000435956.7",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1122G>C",
"hgvs_p": "p.Glu374Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000397038.2",
"strand": false,
"transcript": "ENST00000435956.7",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 423,
"aa_ref": "E",
"aa_start": 373,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2461,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 1272,
"cds_start": 1119,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000918864.1",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1119G>C",
"hgvs_p": "p.Glu373Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000588923.1",
"strand": false,
"transcript": "ENST00000918864.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 394,
"aa_ref": "E",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "NM_001303539.2",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Glu344Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290468.1",
"strand": false,
"transcript": "NM_001303539.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 394,
"aa_ref": "E",
"aa_start": 344,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2068,
"cdna_start": 1052,
"cds_end": null,
"cds_length": 1185,
"cds_start": 1032,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000893974.1",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.1032G>C",
"hgvs_p": "p.Glu344Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564033.1",
"strand": false,
"transcript": "ENST00000893974.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 359,
"aa_ref": "E",
"aa_start": 309,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1963,
"cdna_start": 947,
"cds_end": null,
"cds_length": 1080,
"cds_start": 927,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NM_001303540.2",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.927G>C",
"hgvs_p": "p.Glu309Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001290469.1",
"strand": false,
"transcript": "NM_001303540.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 322,
"aa_ref": "E",
"aa_start": 272,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1838,
"cdna_start": 824,
"cds_end": null,
"cds_length": 969,
"cds_start": 816,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "ENST00000893977.1",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.816G>C",
"hgvs_p": "p.Glu272Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564036.1",
"strand": false,
"transcript": "ENST00000893977.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 287,
"aa_ref": "E",
"aa_start": 237,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1734,
"cdna_start": 720,
"cds_end": null,
"cds_length": 864,
"cds_start": 711,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000893976.1",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.711G>C",
"hgvs_p": "p.Glu237Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000564035.1",
"strand": false,
"transcript": "ENST00000893976.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 257,
"aa_ref": "E",
"aa_start": 207,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1655,
"cdna_start": 639,
"cds_end": null,
"cds_length": 774,
"cds_start": 621,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 5,
"exon_rank_end": null,
"feature": "ENST00000948723.1",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "c.621G>C",
"hgvs_p": "p.Glu207Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000618782.1",
"strand": false,
"transcript": "ENST00000948723.1",
"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": 810,
"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": "ENST00000600816.1",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "n.714G>C",
"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": "ENST00000600816.1",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 1917,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 6,
"exon_rank": 6,
"exon_rank_end": null,
"feature": "NR_130317.2",
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"hgvs_c": "n.901G>C",
"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": "NR_130317.2",
"transcript_support_level": null
}
],
"custom_annotations": null,
"dbscsnv_ada_prediction": null,
"dbscsnv_ada_score": null,
"dbsnp": "rs1280945053",
"effect": "missense_variant",
"frequency_reference_population": null,
"gene_hgnc_id": 25603,
"gene_symbol": "TMEM143",
"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": "Benign",
"phylop100way_score": -2.171,
"pos": 48333372,
"ref": "C",
"revel_prediction": "Benign",
"revel_score": 0.045,
"splice_prediction_selected": "Benign",
"splice_score_selected": 0,
"splice_source_selected": "max_spliceai",
"spliceai_max_prediction": "Benign",
"spliceai_max_score": 0,
"transcript": "NM_018273.4"
}
]
}