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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: 19-38942691-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=38942691&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 38942691,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_148169.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "NM_024907.7",
"protein_id": "NP_079183.4",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000292852.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024907.7"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000292852.9",
"protein_id": "ENSP00000292852.3",
"transcript_support_level": 1,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_024907.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000292852.9"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000269547",
"gene_hgnc_id": null,
"hgvs_c": "c.466G>C",
"hgvs_p": "p.Gly156Arg",
"transcript": "ENST00000599996.1",
"protein_id": "ENSP00000472465.1",
"transcript_support_level": 2,
"aa_start": 156,
"aa_end": null,
"aa_length": 587,
"cds_start": 466,
"cds_end": null,
"cds_length": 1764,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000599996.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.796G>C",
"hgvs_p": "p.Gly266Arg",
"transcript": "ENST00000939441.1",
"protein_id": "ENSP00000609500.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 292,
"cds_start": 796,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939441.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.781G>C",
"hgvs_p": "p.Gly261Arg",
"transcript": "NM_148169.3",
"protein_id": "NP_680474.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 287,
"cds_start": 781,
"cds_end": null,
"cds_length": 864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_148169.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000595329.5",
"protein_id": "ENSP00000470361.1",
"transcript_support_level": 2,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000595329.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856598.1",
"protein_id": "ENSP00000526657.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856598.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856599.1",
"protein_id": "ENSP00000526658.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856599.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856600.1",
"protein_id": "ENSP00000526659.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856600.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856601.1",
"protein_id": "ENSP00000526660.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856601.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856602.1",
"protein_id": "ENSP00000526661.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856602.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856603.1",
"protein_id": "ENSP00000526662.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856603.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856604.1",
"protein_id": "ENSP00000526663.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856604.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856605.1",
"protein_id": "ENSP00000526664.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856605.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856606.1",
"protein_id": "ENSP00000526665.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856606.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856607.1",
"protein_id": "ENSP00000526666.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856607.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000856608.1",
"protein_id": "ENSP00000526667.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856608.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000939439.1",
"protein_id": "ENSP00000609498.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939439.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000939442.1",
"protein_id": "ENSP00000609501.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000939442.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000944470.1",
"protein_id": "ENSP00000614529.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944470.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000944471.1",
"protein_id": "ENSP00000614530.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944471.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FBXO17",
"gene_hgnc_id": 18754,
"hgvs_c": "c.754G>C",
"hgvs_p": "p.Gly252Arg",
"transcript": "ENST00000944472.1",
"protein_id": "ENSP00000614531.1",
"transcript_support_level": null,
"aa_start": 252,
"aa_end": null,
"aa_length": 278,
"cds_start": 754,
"cds_end": null,
"cds_length": 837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000944472.1"
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{
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{
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{
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 2.219,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"PM2",
"BP4"
],
"verdict": "Uncertain_significance",
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"inheritance_mode": "AR",
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{
"score": 1,
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"BP4"
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"verdict": "Uncertain_significance",
"transcript": "ENST00000599996.1",
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"effects": [
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"inheritance_mode": "",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}