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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: 19-37242879-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=37242879&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 37242879,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_152604.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387601.1",
"protein_id": "NP_001374530.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000684119.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001387601.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "ENST00000684119.1",
"protein_id": "ENSP00000507972.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001387601.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000684119.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "ENST00000352998.7",
"protein_id": "ENSP00000340132.2",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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": "ENST00000352998.7"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.646C>T",
"hgvs_p": "p.Arg216Trp",
"transcript": "ENST00000952121.1",
"protein_id": "ENSP00000622180.1",
"transcript_support_level": null,
"aa_start": 216,
"aa_end": null,
"aa_length": 476,
"cds_start": 646,
"cds_end": null,
"cds_length": 1431,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000952121.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001345947.2",
"protein_id": "NP_001332876.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001345947.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001345948.2",
"protein_id": "NP_001332877.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001345948.2"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001345949.3",
"protein_id": "NP_001332878.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001345949.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387593.1",
"protein_id": "NP_001374522.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387593.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387594.1",
"protein_id": "NP_001374523.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387594.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387595.1",
"protein_id": "NP_001374524.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387595.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387596.1",
"protein_id": "NP_001374525.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387596.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387597.1",
"protein_id": "NP_001374526.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387597.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387598.1",
"protein_id": "NP_001374527.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387598.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387599.1",
"protein_id": "NP_001374528.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387599.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387600.1",
"protein_id": "NP_001374529.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387600.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_001387602.1",
"protein_id": "NP_001374531.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_001387602.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "NM_152604.3",
"protein_id": "NP_689817.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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_152604.3"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "ENST00000589413.5",
"protein_id": "ENSP00000464871.1",
"transcript_support_level": 2,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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": "ENST00000589413.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "ENST00000590503.5",
"protein_id": "ENSP00000466101.1",
"transcript_support_level": 5,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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": "ENST00000590503.5"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "ENST00000882182.1",
"protein_id": "ENSP00000552241.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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": "ENST00000882182.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"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": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "ENST00000882183.1",
"protein_id": "ENSP00000552242.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"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": "ENST00000882183.1"
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZNF383",
"gene_hgnc_id": 18609,
"hgvs_c": "c.643C>T",
"hgvs_p": "p.Arg215Trp",
"transcript": "ENST00000938216.1",
"protein_id": "ENSP00000608275.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 475,
"cds_start": 643,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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],
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"computational_score_selected": 0.2674322724342346,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.077,
"revel_prediction": "Benign",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.295,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4",
"acmg_by_gene": [
{
"score": 1,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_152604.3",
"gene_symbol": "ZNF383",
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"effects": [
"missense_variant"
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"inheritance_mode": "AR",
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{
"score": 1,
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"criteria": [
"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000652687.1",
"gene_symbol": "ENSG00000267605",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
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}
],
"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
}