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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: 17-44189518-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44189518&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44189518,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001076674.3",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "NM_001076674.3",
"protein_id": "NP_001070142.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000538716.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001076674.3"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "ENST00000538716.7",
"protein_id": "ENSP00000444565.1",
"transcript_support_level": 2,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001076674.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000538716.7"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Phe",
"transcript": "ENST00000319511.6",
"protein_id": "ENSP00000313214.5",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000319511.6"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Phe",
"transcript": "ENST00000357984.7",
"protein_id": "ENSP00000350672.3",
"transcript_support_level": 1,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000357984.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.253+219C>T",
"hgvs_p": null,
"transcript": "ENST00000590235.5",
"protein_id": "ENSP00000465015.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 94,
"cds_start": null,
"cds_end": null,
"cds_length": 285,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000590235.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "n.*54C>T",
"hgvs_p": null,
"transcript": "ENST00000587326.1",
"protein_id": "ENSP00000467506.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000587326.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "n.*54C>T",
"hgvs_p": null,
"transcript": "ENST00000587326.1",
"protein_id": "ENSP00000467506.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000587326.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "NM_001353177.2",
"protein_id": "NP_001340106.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353177.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "NM_001353181.2",
"protein_id": "NP_001340110.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353181.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "NM_001353184.2",
"protein_id": "NP_001340113.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353184.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "ENST00000587989.1",
"protein_id": "ENSP00000466971.1",
"transcript_support_level": 3,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587989.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "ENST00000890098.1",
"protein_id": "ENSP00000560157.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890098.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "ENST00000890099.1",
"protein_id": "ENSP00000560158.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890099.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe",
"transcript": "ENST00000890100.1",
"protein_id": "ENSP00000560159.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 321,
"cds_start": 532,
"cds_end": null,
"cds_length": 966,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890100.1"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Leu169Phe",
"transcript": "NM_001353180.2",
"protein_id": "NP_001340109.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 312,
"cds_start": 505,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353180.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.505C>T",
"hgvs_p": "p.Leu169Phe",
"transcript": "NM_001353189.2",
"protein_id": "NP_001340118.1",
"transcript_support_level": null,
"aa_start": 169,
"aa_end": null,
"aa_length": 312,
"cds_start": 505,
"cds_end": null,
"cds_length": 939,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353189.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Phe",
"transcript": "NM_001353173.2",
"protein_id": "NP_001340102.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353173.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Phe",
"transcript": "NM_001353175.2",
"protein_id": "NP_001340104.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353175.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Phe",
"transcript": "NM_001353176.2",
"protein_id": "NP_001340105.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353176.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Phe",
"transcript": "NM_001353178.2",
"protein_id": "NP_001340107.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353178.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Phe",
"transcript": "NM_001353182.2",
"protein_id": "NP_001340111.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353182.2"
},
{
"aa_ref": "L",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMUB2",
"gene_hgnc_id": 28459,
"hgvs_c": "c.472C>T",
"hgvs_p": "p.Leu158Phe",
"transcript": "NM_001353183.2",
"protein_id": "NP_001340112.1",
"transcript_support_level": null,
"aa_start": 158,
"aa_end": null,
"aa_length": 301,
"cds_start": 472,
"cds_end": null,
"cds_length": 906,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001353183.2"
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"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.8157554864883423,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.326,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8155,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.11,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 5.623,
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001076674.3",
"gene_symbol": "TMUB2",
"hgnc_id": 28459,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.532C>T",
"hgvs_p": "p.Leu178Phe"
}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}