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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: 3-194617118-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=194617118&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 194617118,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001166305.2",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "NM_001011655.3",
"protein_id": "NP_001011655.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 428,
"cds_start": 764,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000347147.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001011655.3"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000347147.9",
"protein_id": "ENSP00000333355.6",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 428,
"cds_start": 764,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001011655.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000347147.9"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.905G>C",
"hgvs_p": "p.Arg302Pro",
"transcript": "ENST00000392432.6",
"protein_id": "ENSP00000376227.2",
"transcript_support_level": 1,
"aa_start": 302,
"aa_end": null,
"aa_length": 475,
"cds_start": 905,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392432.6"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000473092.5",
"protein_id": "ENSP00000418674.1",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000473092.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000381975.7",
"protein_id": "ENSP00000371402.3",
"transcript_support_level": 1,
"aa_start": 255,
"aa_end": null,
"aa_length": 396,
"cds_start": 764,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000381975.7"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.38G>C",
"hgvs_p": "p.Arg13Pro",
"transcript": "ENST00000432352.5",
"protein_id": "ENSP00000409963.1",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 197,
"cds_start": 38,
"cds_end": null,
"cds_length": 594,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000432352.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.528G>C",
"hgvs_p": null,
"transcript": "ENST00000477651.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000477651.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.905G>C",
"hgvs_p": "p.Arg302Pro",
"transcript": "NM_001166305.2",
"protein_id": "NP_001159777.1",
"transcript_support_level": null,
"aa_start": 302,
"aa_end": null,
"aa_length": 475,
"cds_start": 905,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166305.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000943214.1",
"protein_id": "ENSP00000613273.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 458,
"cds_start": 764,
"cds_end": null,
"cds_length": 1377,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943214.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "NM_138399.5",
"protein_id": "NP_612408.3",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 438,
"cds_start": 764,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_138399.5"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.785G>C",
"hgvs_p": "p.Arg262Pro",
"transcript": "ENST00000943212.1",
"protein_id": "ENSP00000613271.1",
"transcript_support_level": null,
"aa_start": 262,
"aa_end": null,
"aa_length": 435,
"cds_start": 785,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943212.1"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "NM_001166306.2",
"protein_id": "NP_001159778.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 396,
"cds_start": 764,
"cds_end": null,
"cds_length": 1191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166306.2"
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.764G>C",
"hgvs_p": "p.Arg255Pro",
"transcript": "ENST00000936586.1",
"protein_id": "ENSP00000606645.1",
"transcript_support_level": null,
"aa_start": 255,
"aa_end": null,
"aa_length": 375,
"cds_start": 764,
"cds_end": null,
"cds_length": 1128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936586.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.613-1421G>C",
"hgvs_p": null,
"transcript": "ENST00000943213.1",
"protein_id": "ENSP00000613272.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 382,
"cds_start": null,
"cds_end": null,
"cds_length": 1149,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943213.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.613-1448G>C",
"hgvs_p": null,
"transcript": "ENST00000936589.1",
"protein_id": "ENSP00000606648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 381,
"cds_start": null,
"cds_end": null,
"cds_length": 1146,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936589.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.613-1448G>C",
"hgvs_p": null,
"transcript": "ENST00000943216.1",
"protein_id": "ENSP00000613275.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943216.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.613-1421G>C",
"hgvs_p": null,
"transcript": "ENST00000936587.1",
"protein_id": "ENSP00000606646.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 371,
"cds_start": null,
"cds_end": null,
"cds_length": 1116,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936587.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.613-6098G>C",
"hgvs_p": null,
"transcript": "ENST00000943215.1",
"protein_id": "ENSP00000613274.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 339,
"cds_start": null,
"cds_end": null,
"cds_length": 1020,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943215.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.613-6098G>C",
"hgvs_p": null,
"transcript": "ENST00000870306.1",
"protein_id": "ENSP00000540365.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 328,
"cds_start": null,
"cds_end": null,
"cds_length": 987,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870306.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.612+6106G>C",
"hgvs_p": null,
"transcript": "ENST00000936588.1",
"protein_id": "ENSP00000606647.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 293,
"cds_start": null,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936588.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "c.310-1448G>C",
"hgvs_p": null,
"transcript": "ENST00000452358.5",
"protein_id": "ENSP00000414333.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 261,
"cds_start": null,
"cds_end": null,
"cds_length": 786,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000452358.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM44",
"gene_hgnc_id": 25120,
"hgvs_c": "n.616G>C",
"hgvs_p": null,
"transcript": "ENST00000494894.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000494894.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"transcript": "ENST00000419280.5",
"protein_id": "ENSP00000414077.1",
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"biotype": "nonsense_mediated_decay",
"feature": "ENST00000419280.5"
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],
"gene_symbol": "TMEM44",
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"dbsnp": "rs369611318",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.15288e-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": 0.23334449529647827,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.21,
"revel_prediction": "Benign",
"alphamissense_score": 0.9179,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.18,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.651,
"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": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001166305.2",
"gene_symbol": "TMEM44",
"hgnc_id": 25120,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.905G>C",
"hgvs_p": "p.Arg302Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}