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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: 17-2672723-GATAAAACT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=2672723&ref=GATAAAACT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 2672723,
"ref": "GATAAAACT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "NM_000430.4",
"consequences": [
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "NM_000430.4",
"protein_id": "NP_000421.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": "ENST00000397195.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000430.4"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000397195.10",
"protein_id": "ENSP00000380378.4",
"transcript_support_level": 1,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 5589,
"mane_select": "NM_000430.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397195.10"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "n.612_619delCTATAAAA",
"hgvs_p": null,
"transcript": "ENST00000572915.6",
"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": 1361,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000572915.6"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.698_705delCTATAAAA",
"hgvs_p": "p.Thr233fs",
"transcript": "ENST00000674608.1",
"protein_id": "ENSP00000501976.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 428,
"cds_start": 698,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 942,
"cdna_end": null,
"cdna_length": 5337,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674608.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.698_705delCTATAAAA",
"hgvs_p": "p.Thr233fs",
"transcript": "ENST00000863852.1",
"protein_id": "ENSP00000533911.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 428,
"cds_start": 698,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 1060,
"cdna_end": null,
"cdna_length": 3142,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863852.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000576586.6",
"protein_id": "ENSP00000461087.2",
"transcript_support_level": 4,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 982,
"cdna_end": null,
"cdna_length": 5384,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000576586.6"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000675202.1",
"protein_id": "ENSP00000502843.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1096,
"cdna_end": null,
"cdna_length": 5491,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675202.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000675331.1",
"protein_id": "ENSP00000502031.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1137,
"cdna_end": null,
"cdna_length": 5532,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675331.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000675390.1",
"protein_id": "ENSP00000501969.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 975,
"cdna_end": null,
"cdna_length": 5370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675390.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000676098.1",
"protein_id": "ENSP00000502735.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 961,
"cdna_end": null,
"cdna_length": 5356,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676098.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000676188.1",
"protein_id": "ENSP00000502577.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 902,
"cdna_end": null,
"cdna_length": 5297,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676188.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000713986.1",
"protein_id": "ENSP00000519277.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 953,
"cdna_end": null,
"cdna_length": 1653,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713986.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000713987.1",
"protein_id": "ENSP00000519278.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1072,
"cdna_end": null,
"cdna_length": 1769,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000713987.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000863847.1",
"protein_id": "ENSP00000533906.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1357,
"cdna_end": null,
"cdna_length": 5756,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863847.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000863848.1",
"protein_id": "ENSP00000533907.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1346,
"cdna_end": null,
"cdna_length": 5748,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863848.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000863849.1",
"protein_id": "ENSP00000533908.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1263,
"cdna_end": null,
"cdna_length": 5663,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863849.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000863850.1",
"protein_id": "ENSP00000533909.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1333,
"cdna_end": null,
"cdna_length": 4620,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863850.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000863851.1",
"protein_id": "ENSP00000533910.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 3556,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863851.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000863853.1",
"protein_id": "ENSP00000533912.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1227,
"cdna_end": null,
"cdna_length": 1924,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863853.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000863854.1",
"protein_id": "ENSP00000533913.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1026,
"cdna_end": null,
"cdna_length": 1722,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000863854.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs",
"transcript": "ENST00000934916.1",
"protein_id": "ENSP00000604975.1",
"transcript_support_level": null,
"aa_start": 215,
"aa_end": null,
"aa_length": 410,
"cds_start": 644,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 5443,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934916.1"
},
{
"aa_ref": "TIK",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PAFAH1B1",
"gene_hgnc_id": 8574,
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{
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],
"gene_symbol": "PAFAH1B1",
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"dbsnp": "rs587784274",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
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"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.163,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
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"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
"score": 12,
"benign_score": 0,
"pathogenic_score": 12,
"criteria": [
"PVS1",
"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_000430.4",
"gene_symbol": "PAFAH1B1",
"hgnc_id": 8574,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.644_651delCTATAAAA",
"hgvs_p": "p.Thr215fs"
}
],
"clinvar_disease": "Lissencephaly due to LIS1 mutation",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Lissencephaly due to LIS1 mutation",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}