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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: 12-27692838-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=27692838&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 27692838,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_177444.3",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Arg992Cys",
"transcript": "NM_003622.4",
"protein_id": "NP_003613.4",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000228425.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003622.4"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.2974C>T",
"hgvs_p": "p.Arg992Cys",
"transcript": "ENST00000228425.11",
"protein_id": "ENSP00000228425.6",
"transcript_support_level": 1,
"aa_start": 992,
"aa_end": null,
"aa_length": 1005,
"cds_start": 2974,
"cds_end": null,
"cds_length": 3018,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003622.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000228425.11"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.2992C>T",
"hgvs_p": "p.Arg998Cys",
"transcript": "ENST00000318304.12",
"protein_id": "ENSP00000314724.8",
"transcript_support_level": 1,
"aa_start": 998,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2992,
"cds_end": null,
"cds_length": 3036,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000318304.12"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.2899C>T",
"hgvs_p": "p.Arg967Cys",
"transcript": "ENST00000542629.5",
"protein_id": "ENSP00000443442.1",
"transcript_support_level": 1,
"aa_start": 967,
"aa_end": null,
"aa_length": 980,
"cds_start": 2899,
"cds_end": null,
"cds_length": 2943,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542629.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.2533C>T",
"hgvs_p": "p.Arg845Cys",
"transcript": "ENST00000537927.5",
"protein_id": "ENSP00000445425.1",
"transcript_support_level": 1,
"aa_start": 845,
"aa_end": null,
"aa_length": 858,
"cds_start": 2533,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000537927.5"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3070C>T",
"hgvs_p": "p.Arg1024Cys",
"transcript": "ENST00000943203.1",
"protein_id": "ENSP00000613262.1",
"transcript_support_level": null,
"aa_start": 1024,
"aa_end": null,
"aa_length": 1037,
"cds_start": 3070,
"cds_end": null,
"cds_length": 3114,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943203.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Arg1023Cys",
"transcript": "ENST00000887725.1",
"protein_id": "ENSP00000557784.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887725.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3067C>T",
"hgvs_p": "p.Arg1023Cys",
"transcript": "ENST00000943192.1",
"protein_id": "ENSP00000613251.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1036,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943192.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3061C>T",
"hgvs_p": "p.Arg1021Cys",
"transcript": "ENST00000943196.1",
"protein_id": "ENSP00000613255.1",
"transcript_support_level": null,
"aa_start": 1021,
"aa_end": null,
"aa_length": 1034,
"cds_start": 3061,
"cds_end": null,
"cds_length": 3105,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943196.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3058C>T",
"hgvs_p": "p.Arg1020Cys",
"transcript": "ENST00000887720.1",
"protein_id": "ENSP00000557779.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1033,
"cds_start": 3058,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887720.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3058C>T",
"hgvs_p": "p.Arg1020Cys",
"transcript": "ENST00000887729.1",
"protein_id": "ENSP00000557788.1",
"transcript_support_level": null,
"aa_start": 1020,
"aa_end": null,
"aa_length": 1033,
"cds_start": 3058,
"cds_end": null,
"cds_length": 3102,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887729.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3055C>T",
"hgvs_p": "p.Arg1019Cys",
"transcript": "ENST00000943184.1",
"protein_id": "ENSP00000613243.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3055,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943184.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3055C>T",
"hgvs_p": "p.Arg1019Cys",
"transcript": "ENST00000943198.1",
"protein_id": "ENSP00000613257.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3055,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943198.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3055C>T",
"hgvs_p": "p.Arg1019Cys",
"transcript": "ENST00000943199.1",
"protein_id": "ENSP00000613258.1",
"transcript_support_level": null,
"aa_start": 1019,
"aa_end": null,
"aa_length": 1032,
"cds_start": 3055,
"cds_end": null,
"cds_length": 3099,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943199.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3037C>T",
"hgvs_p": "p.Arg1013Cys",
"transcript": "ENST00000943195.1",
"protein_id": "ENSP00000613254.1",
"transcript_support_level": null,
"aa_start": 1013,
"aa_end": null,
"aa_length": 1026,
"cds_start": 3037,
"cds_end": null,
"cds_length": 3081,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943195.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3034C>T",
"hgvs_p": "p.Arg1012Cys",
"transcript": "ENST00000887718.1",
"protein_id": "ENSP00000557777.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887718.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3034C>T",
"hgvs_p": "p.Arg1012Cys",
"transcript": "ENST00000887722.1",
"protein_id": "ENSP00000557781.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000887722.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3034C>T",
"hgvs_p": "p.Arg1012Cys",
"transcript": "ENST00000943182.1",
"protein_id": "ENSP00000613241.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943182.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3034C>T",
"hgvs_p": "p.Arg1012Cys",
"transcript": "ENST00000943183.1",
"protein_id": "ENSP00000613242.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943183.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3034C>T",
"hgvs_p": "p.Arg1012Cys",
"transcript": "ENST00000943200.1",
"protein_id": "ENSP00000613259.1",
"transcript_support_level": null,
"aa_start": 1012,
"aa_end": null,
"aa_length": 1025,
"cds_start": 3034,
"cds_end": null,
"cds_length": 3078,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943200.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3028C>T",
"hgvs_p": "p.Arg1010Cys",
"transcript": "ENST00000943190.1",
"protein_id": "ENSP00000613249.1",
"transcript_support_level": null,
"aa_start": 1010,
"aa_end": null,
"aa_length": 1023,
"cds_start": 3028,
"cds_end": null,
"cds_length": 3072,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000943190.1"
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PPFIBP1",
"gene_hgnc_id": 9249,
"hgvs_c": "c.3025C>T",
"hgvs_p": "p.Arg1009Cys",
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{
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],
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"computational_score_selected": 0.04077780246734619,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.07000000029802322,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.036,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.45,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.095,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.07,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"mitotip_prediction": null,
"acmg_score": -2,
"acmg_classification": "Likely_benign",
"acmg_criteria": "PM2,BP4_Strong",
"acmg_by_gene": [
{
"score": -2,
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "NM_177444.3",
"gene_symbol": "PPFIBP1",
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"effects": [
"missense_variant"
],
"inheritance_mode": "Unknown,AR",
"hgvs_c": "c.2992C>T",
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{
"score": -2,
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"criteria": [
"PM2",
"BP4_Strong"
],
"verdict": "Likely_benign",
"transcript": "ENST00000740393.1",
"gene_symbol": "MRPS35-DT",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.253-296G>A",
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}
],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}