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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: 10-86716377-CCCTACACCCCCTCCCCTGCCCCTG-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=86716377&ref=CCCTACACCCCCTCCCCTGCCCCTG&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 86716377,
"ref": "CCCTACACCCCCTCCCCTGCCCCTG",
"alt": "C",
"effect": "disruptive_inframe_deletion",
"transcript": "NM_001171610.2",
"consequences": [
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1320_1343delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro441_Ser448del",
"transcript": "NM_007078.3",
"protein_id": "NP_009009.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 727,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361373.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_007078.3"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1320_1343delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro441_Ser448del",
"transcript": "ENST00000361373.9",
"protein_id": "ENSP00000355296.3",
"transcript_support_level": 1,
"aa_start": 440,
"aa_end": null,
"aa_length": 727,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_007078.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361373.9"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1524_1547delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro509_Ser516del",
"transcript": "ENST00000945680.1",
"protein_id": "ENSP00000615739.1",
"transcript_support_level": null,
"aa_start": 508,
"aa_end": null,
"aa_length": 795,
"cds_start": 1524,
"cds_end": null,
"cds_length": 2388,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000945680.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1461_1484delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro488_Ser495del",
"transcript": "ENST00000871464.1",
"protein_id": "ENSP00000541523.1",
"transcript_support_level": null,
"aa_start": 487,
"aa_end": null,
"aa_length": 774,
"cds_start": 1461,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871464.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1368_1391delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro457_Ser464del",
"transcript": "ENST00000871462.1",
"protein_id": "ENSP00000541521.1",
"transcript_support_level": null,
"aa_start": 456,
"aa_end": null,
"aa_length": 743,
"cds_start": 1368,
"cds_end": null,
"cds_length": 2232,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871462.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1335_1358delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro446_Ser453del",
"transcript": "NM_001171610.2",
"protein_id": "NP_001165081.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 732,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001171610.2"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1335_1358delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro446_Ser453del",
"transcript": "ENST00000623056.4",
"protein_id": "ENSP00000485500.1",
"transcript_support_level": 5,
"aa_start": 445,
"aa_end": null,
"aa_length": 732,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623056.4"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1335_1358delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro446_Ser453del",
"transcript": "ENST00000871441.1",
"protein_id": "ENSP00000541500.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 732,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871441.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1335_1358delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro446_Ser453del",
"transcript": "ENST00000871460.1",
"protein_id": "ENSP00000541519.1",
"transcript_support_level": null,
"aa_start": 445,
"aa_end": null,
"aa_length": 732,
"cds_start": 1335,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871460.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1320_1343delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro441_Ser448del",
"transcript": "ENST00000871439.1",
"protein_id": "ENSP00000541498.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 727,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871439.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1320_1343delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro441_Ser448del",
"transcript": "ENST00000871467.1",
"protein_id": "ENSP00000541526.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 727,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2184,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871467.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1272_1295delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro425_Ser432del",
"transcript": "ENST00000871456.1",
"protein_id": "ENSP00000541515.1",
"transcript_support_level": null,
"aa_start": 424,
"aa_end": null,
"aa_length": 711,
"cds_start": 1272,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871456.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1320_1343delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro441_Ser448del",
"transcript": "ENST00000871458.1",
"protein_id": "ENSP00000541517.1",
"transcript_support_level": null,
"aa_start": 440,
"aa_end": null,
"aa_length": 710,
"cds_start": 1320,
"cds_end": null,
"cds_length": 2133,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871458.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1227_1250delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro410_Ser417del",
"transcript": "ENST00000871454.1",
"protein_id": "ENSP00000541513.1",
"transcript_support_level": null,
"aa_start": 409,
"aa_end": null,
"aa_length": 696,
"cds_start": 1227,
"cds_end": null,
"cds_length": 2091,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871454.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1179_1202delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro394_Ser401del",
"transcript": "NM_001368066.1",
"protein_id": "NP_001354995.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 680,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001368066.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1179_1202delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro394_Ser401del",
"transcript": "ENST00000689740.1",
"protein_id": "ENSP00000510300.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 680,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689740.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1179_1202delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro394_Ser401del",
"transcript": "ENST00000693680.1",
"protein_id": "ENSP00000509539.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 680,
"cds_start": 1179,
"cds_end": null,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000693680.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1179_1202delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro394_Ser401del",
"transcript": "ENST00000871440.1",
"protein_id": "ENSP00000541499.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 680,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871440.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1179_1202delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro394_Ser401del",
"transcript": "ENST00000871442.1",
"protein_id": "ENSP00000541501.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 680,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871442.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDB3",
"gene_hgnc_id": 15710,
"hgvs_c": "c.1179_1202delCCCTGCCCCTGCCTACACCCCCTC",
"hgvs_p": "p.Pro394_Ser401del",
"transcript": "ENST00000871446.1",
"protein_id": "ENSP00000541505.1",
"transcript_support_level": null,
"aa_start": 393,
"aa_end": null,
"aa_length": 680,
"cds_start": 1179,
"cds_end": null,
"cds_length": 2043,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000871446.1"
},
{
"aa_ref": "SPAPAYTPS",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"disruptive_inframe_deletion"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
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{
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],
"verdict": "Uncertain_significance",
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],
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"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:2",
"phenotype_combined": "not specified|Myofibrillar myopathy 4|not provided|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}