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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: 11-61523937-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61523937&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61523937,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001365809.2",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Ser549Asn",
"transcript": "NM_001365809.2",
"protein_id": "NP_001352738.1",
"transcript_support_level": null,
"aa_start": 549,
"aa_end": null,
"aa_length": 686,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000539008.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001365809.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1646G>A",
"hgvs_p": "p.Ser549Asn",
"transcript": "ENST00000539008.6",
"protein_id": "ENSP00000439694.1",
"transcript_support_level": 5,
"aa_start": 549,
"aa_end": null,
"aa_length": 686,
"cds_start": 1646,
"cds_end": null,
"cds_length": 2061,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001365809.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539008.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Ser341Asn",
"transcript": "ENST00000540677.5",
"protein_id": "ENSP00000444201.1",
"transcript_support_level": 1,
"aa_start": 341,
"aa_end": null,
"aa_length": 478,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000540677.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Ser266Asn",
"transcript": "ENST00000263846.8",
"protein_id": "ENSP00000263846.4",
"transcript_support_level": 1,
"aa_start": 266,
"aa_end": null,
"aa_length": 403,
"cds_start": 797,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263846.8"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Ser474Asn",
"transcript": "ENST00000542670.5",
"protein_id": "ENSP00000444019.1",
"transcript_support_level": 5,
"aa_start": 474,
"aa_end": null,
"aa_length": 611,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542670.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Ser385Asn",
"transcript": "NM_001411007.1",
"protein_id": "NP_001397936.1",
"transcript_support_level": null,
"aa_start": 385,
"aa_end": null,
"aa_length": 522,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001411007.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1154G>A",
"hgvs_p": "p.Ser385Asn",
"transcript": "ENST00000535826.5",
"protein_id": "ENSP00000437720.1",
"transcript_support_level": 5,
"aa_start": 385,
"aa_end": null,
"aa_length": 522,
"cds_start": 1154,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535826.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1061G>A",
"hgvs_p": "p.Ser354Asn",
"transcript": "ENST00000968863.1",
"protein_id": "ENSP00000638922.1",
"transcript_support_level": null,
"aa_start": 354,
"aa_end": null,
"aa_length": 491,
"cds_start": 1061,
"cds_end": null,
"cds_length": 1476,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968863.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1085G>A",
"hgvs_p": "p.Ser362Asn",
"transcript": "NM_001370210.1",
"protein_id": "NP_001357139.1",
"transcript_support_level": null,
"aa_start": 362,
"aa_end": null,
"aa_length": 479,
"cds_start": 1085,
"cds_end": null,
"cds_length": 1440,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370210.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1022G>A",
"hgvs_p": "p.Ser341Asn",
"transcript": "NM_001252065.2",
"protein_id": "NP_001238994.1",
"transcript_support_level": null,
"aa_start": 341,
"aa_end": null,
"aa_length": 478,
"cds_start": 1022,
"cds_end": null,
"cds_length": 1437,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001252065.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Ser310Asn",
"transcript": "NM_001300773.2",
"protein_id": "NP_001287702.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 447,
"cds_start": 929,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300773.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Ser310Asn",
"transcript": "ENST00000542836.5",
"protein_id": "ENSP00000444568.1",
"transcript_support_level": 5,
"aa_start": 310,
"aa_end": null,
"aa_length": 447,
"cds_start": 929,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000542836.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.929G>A",
"hgvs_p": "p.Ser310Asn",
"transcript": "ENST00000933166.1",
"protein_id": "ENSP00000603225.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 447,
"cds_start": 929,
"cds_end": null,
"cds_length": 1344,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933166.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Ser266Asn",
"transcript": "NM_004200.4",
"protein_id": "NP_004191.2",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 403,
"cds_start": 797,
"cds_end": null,
"cds_length": 1212,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004200.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.797G>A",
"hgvs_p": "p.Ser266Asn",
"transcript": "NM_001370211.1",
"protein_id": "NP_001357140.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 383,
"cds_start": 797,
"cds_end": null,
"cds_length": 1152,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370211.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.704G>A",
"hgvs_p": "p.Ser235Asn",
"transcript": "ENST00000933167.1",
"protein_id": "ENSP00000603226.1",
"transcript_support_level": null,
"aa_start": 235,
"aa_end": null,
"aa_length": 372,
"cds_start": 704,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933167.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1664G>A",
"hgvs_p": "p.Ser555Asn",
"transcript": "XM_011545335.3",
"protein_id": "XP_011543637.1",
"transcript_support_level": null,
"aa_start": 555,
"aa_end": null,
"aa_length": 692,
"cds_start": 1664,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545335.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1541G>A",
"hgvs_p": "p.Ser514Asn",
"transcript": "XM_011545336.3",
"protein_id": "XP_011543638.1",
"transcript_support_level": null,
"aa_start": 514,
"aa_end": null,
"aa_length": 651,
"cds_start": 1541,
"cds_end": null,
"cds_length": 1956,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545336.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1532G>A",
"hgvs_p": "p.Ser511Asn",
"transcript": "XM_011545337.3",
"protein_id": "XP_011543639.1",
"transcript_support_level": null,
"aa_start": 511,
"aa_end": null,
"aa_length": 648,
"cds_start": 1532,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545337.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1514G>A",
"hgvs_p": "p.Ser505Asn",
"transcript": "XM_005274384.3",
"protein_id": "XP_005274441.1",
"transcript_support_level": null,
"aa_start": 505,
"aa_end": null,
"aa_length": 642,
"cds_start": 1514,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005274384.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1439G>A",
"hgvs_p": "p.Ser480Asn",
"transcript": "XM_011545338.3",
"protein_id": "XP_011543640.1",
"transcript_support_level": null,
"aa_start": 480,
"aa_end": null,
"aa_length": 617,
"cds_start": 1439,
"cds_end": null,
"cds_length": 1854,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011545338.3"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SYT7",
"gene_hgnc_id": 11514,
"hgvs_c": "c.1421G>A",
"hgvs_p": "p.Ser474Asn",
"transcript": "XM_005274385.5",
"protein_id": "XP_005274442.1",
"transcript_support_level": null,
"aa_start": 474,
"aa_end": null,
"aa_length": 611,
"cds_start": 1421,
"cds_end": null,
"cds_length": 1836,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
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],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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{
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001365809.2",
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"effects": [
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],
"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
}