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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: 11-85981922-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=85981922&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 85981922,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_007166.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Ser533Asn",
"transcript": "NM_007166.4",
"protein_id": "NP_009097.2",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 652,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000393346.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007166.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Ser533Asn",
"transcript": "ENST00000393346.8",
"protein_id": "ENSP00000377015.3",
"transcript_support_level": 1,
"aa_start": 533,
"aa_end": null,
"aa_length": 652,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1959,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007166.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393346.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Ser526Asn",
"transcript": "ENST00000526033.5",
"protein_id": "ENSP00000433846.1",
"transcript_support_level": 1,
"aa_start": 526,
"aa_end": null,
"aa_length": 645,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526033.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Ser483Asn",
"transcript": "ENST00000532317.5",
"protein_id": "ENSP00000436958.1",
"transcript_support_level": 1,
"aa_start": 483,
"aa_end": null,
"aa_length": 610,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532317.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Ser533Asn",
"transcript": "ENST00000890386.1",
"protein_id": "ENSP00000560445.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 660,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1983,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890386.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1583G>A",
"hgvs_p": "p.Ser528Asn",
"transcript": "ENST00000890388.1",
"protein_id": "ENSP00000560447.1",
"transcript_support_level": null,
"aa_start": 528,
"aa_end": null,
"aa_length": 655,
"cds_start": 1583,
"cds_end": null,
"cds_length": 1968,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890388.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Ser526Asn",
"transcript": "ENST00000890390.1",
"protein_id": "ENSP00000560449.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 653,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890390.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Ser526Asn",
"transcript": "ENST00000890409.1",
"protein_id": "ENSP00000560468.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 653,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1962,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890409.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1556G>A",
"hgvs_p": "p.Ser519Asn",
"transcript": "ENST00000890402.1",
"protein_id": "ENSP00000560461.1",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 646,
"cds_start": 1556,
"cds_end": null,
"cds_length": 1941,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890402.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1577G>A",
"hgvs_p": "p.Ser526Asn",
"transcript": "NM_001206946.2",
"protein_id": "NP_001193875.1",
"transcript_support_level": null,
"aa_start": 526,
"aa_end": null,
"aa_length": 645,
"cds_start": 1577,
"cds_end": null,
"cds_length": 1938,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001206946.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1562G>A",
"hgvs_p": "p.Ser521Asn",
"transcript": "ENST00000890401.1",
"protein_id": "ENSP00000560460.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 640,
"cds_start": 1562,
"cds_end": null,
"cds_length": 1923,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890401.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Ser533Asn",
"transcript": "NM_001411034.1",
"protein_id": "NP_001397963.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 632,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411034.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Ser533Asn",
"transcript": "ENST00000356360.9",
"protein_id": "ENSP00000348718.5",
"transcript_support_level": 5,
"aa_start": 533,
"aa_end": null,
"aa_length": 632,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000356360.9"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1448G>A",
"hgvs_p": "p.Ser483Asn",
"transcript": "NM_001008660.3",
"protein_id": "NP_001008660.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 610,
"cds_start": 1448,
"cds_end": null,
"cds_length": 1833,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001008660.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Ser481Asn",
"transcript": "ENST00000890403.1",
"protein_id": "ENSP00000560462.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 608,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1827,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890403.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1430G>A",
"hgvs_p": "p.Ser477Asn",
"transcript": "ENST00000890411.1",
"protein_id": "ENSP00000560470.1",
"transcript_support_level": null,
"aa_start": 477,
"aa_end": null,
"aa_length": 604,
"cds_start": 1430,
"cds_end": null,
"cds_length": 1815,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890411.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Ser476Asn",
"transcript": "ENST00000890399.1",
"protein_id": "ENSP00000560458.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 603,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890399.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1442G>A",
"hgvs_p": "p.Ser481Asn",
"transcript": "ENST00000890408.1",
"protein_id": "ENSP00000560467.1",
"transcript_support_level": null,
"aa_start": 481,
"aa_end": null,
"aa_length": 600,
"cds_start": 1442,
"cds_end": null,
"cds_length": 1803,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890408.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1433G>A",
"hgvs_p": "p.Ser478Asn",
"transcript": "ENST00000890387.1",
"protein_id": "ENSP00000560446.1",
"transcript_support_level": null,
"aa_start": 478,
"aa_end": null,
"aa_length": 597,
"cds_start": 1433,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890387.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1598G>A",
"hgvs_p": "p.Ser533Asn",
"transcript": "ENST00000890396.1",
"protein_id": "ENSP00000560455.1",
"transcript_support_level": null,
"aa_start": 533,
"aa_end": null,
"aa_length": 597,
"cds_start": 1598,
"cds_end": null,
"cds_length": 1794,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890396.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1406G>A",
"hgvs_p": "p.Ser469Asn",
"transcript": "ENST00000890393.1",
"protein_id": "ENSP00000560452.1",
"transcript_support_level": null,
"aa_start": 469,
"aa_end": null,
"aa_length": 596,
"cds_start": 1406,
"cds_end": null,
"cds_length": 1791,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000890393.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PICALM",
"gene_hgnc_id": 15514,
"hgvs_c": "c.1427G>A",
"hgvs_p": "p.Ser476Asn",
"transcript": "ENST00000890412.1",
"protein_id": "ENSP00000560471.1",
"transcript_support_level": null,
"aa_start": 476,
"aa_end": null,
"aa_length": 595,
"cds_start": 1427,
"cds_end": null,
"cds_length": 1788,
"cdna_start": null,
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{
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{
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{
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{
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{
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{
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],
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],
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": 0.0583476722240448,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.17000000178813934,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.65,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.17,
"spliceai_max_prediction": "Benign",
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"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": -4,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
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"PM2",
"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "NM_007166.4",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "c.1598G>A",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}