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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: 19-11129629-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11129629&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11129629,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_000527.5",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Val836Ile",
"transcript": "NM_000527.5",
"protein_id": "NP_000518.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 860,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000558518.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000527.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Val836Ile",
"transcript": "ENST00000558518.6",
"protein_id": "ENSP00000454071.1",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 860,
"cds_start": 2506,
"cds_end": null,
"cds_length": 2583,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000527.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000558518.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2764G>A",
"hgvs_p": "p.Val922Ile",
"transcript": "ENST00000252444.10",
"protein_id": "ENSP00000252444.6",
"transcript_support_level": 1,
"aa_start": 922,
"aa_end": null,
"aa_length": 946,
"cds_start": 2764,
"cds_end": null,
"cds_length": 2841,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000252444.10"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Val836Ile",
"transcript": "ENST00000558013.5",
"protein_id": "ENSP00000453346.1",
"transcript_support_level": 1,
"aa_start": 836,
"aa_end": null,
"aa_length": 858,
"cds_start": 2506,
"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": "ENST00000558013.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2503G>A",
"hgvs_p": "p.Val835Ile",
"transcript": "ENST00000913405.1",
"protein_id": "ENSP00000583464.1",
"transcript_support_level": null,
"aa_start": 835,
"aa_end": null,
"aa_length": 859,
"cds_start": 2503,
"cds_end": null,
"cds_length": 2580,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913405.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Val836Ile",
"transcript": "NM_001195798.2",
"protein_id": "NP_001182727.1",
"transcript_support_level": null,
"aa_start": 836,
"aa_end": null,
"aa_length": 858,
"cds_start": 2506,
"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": "NM_001195798.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2428G>A",
"hgvs_p": "p.Val810Ile",
"transcript": "ENST00000856646.1",
"protein_id": "ENSP00000526705.1",
"transcript_support_level": null,
"aa_start": 810,
"aa_end": null,
"aa_length": 834,
"cds_start": 2428,
"cds_end": null,
"cds_length": 2505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856646.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2386G>A",
"hgvs_p": "p.Val796Ile",
"transcript": "ENST00000560467.2",
"protein_id": "ENSP00000453513.2",
"transcript_support_level": 3,
"aa_start": 796,
"aa_end": null,
"aa_length": 820,
"cds_start": 2386,
"cds_end": null,
"cds_length": 2463,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000560467.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "NM_001195799.2",
"protein_id": "NP_001182728.1",
"transcript_support_level": null,
"aa_start": 795,
"aa_end": null,
"aa_length": 819,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001195799.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2383G>A",
"hgvs_p": "p.Val795Ile",
"transcript": "ENST00000535915.5",
"protein_id": "ENSP00000440520.1",
"transcript_support_level": 2,
"aa_start": 795,
"aa_end": null,
"aa_length": 819,
"cds_start": 2383,
"cds_end": null,
"cds_length": 2460,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535915.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Val785Ile",
"transcript": "ENST00000856647.1",
"protein_id": "ENSP00000526706.1",
"transcript_support_level": null,
"aa_start": 785,
"aa_end": null,
"aa_length": 809,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856647.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2335G>A",
"hgvs_p": "p.Val779Ile",
"transcript": "ENST00000856648.1",
"protein_id": "ENSP00000526707.1",
"transcript_support_level": null,
"aa_start": 779,
"aa_end": null,
"aa_length": 803,
"cds_start": 2335,
"cds_end": null,
"cds_length": 2412,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856648.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2305G>A",
"hgvs_p": "p.Val769Ile",
"transcript": "ENST00000942040.1",
"protein_id": "ENSP00000612099.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 793,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2382,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942040.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Val709Ile",
"transcript": "ENST00000856645.1",
"protein_id": "ENSP00000526704.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 733,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000856645.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2125G>A",
"hgvs_p": "p.Val709Ile",
"transcript": "ENST00000913412.1",
"protein_id": "ENSP00000583471.1",
"transcript_support_level": null,
"aa_start": 709,
"aa_end": null,
"aa_length": 731,
"cds_start": 2125,
"cds_end": null,
"cds_length": 2196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913412.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2074G>A",
"hgvs_p": "p.Val692Ile",
"transcript": "ENST00000913410.1",
"protein_id": "ENSP00000583469.1",
"transcript_support_level": null,
"aa_start": 692,
"aa_end": null,
"aa_length": 716,
"cds_start": 2074,
"cds_end": null,
"cds_length": 2151,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913410.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Val691Ile",
"transcript": "ENST00000913407.1",
"protein_id": "ENSP00000583466.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 715,
"cds_start": 2071,
"cds_end": null,
"cds_length": 2148,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913407.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2047G>A",
"hgvs_p": "p.Val683Ile",
"transcript": "ENST00000913408.1",
"protein_id": "ENSP00000583467.1",
"transcript_support_level": null,
"aa_start": 683,
"aa_end": null,
"aa_length": 707,
"cds_start": 2047,
"cds_end": null,
"cds_length": 2124,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000913408.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Val668Ile",
"transcript": "NM_001195800.2",
"protein_id": "NP_001182729.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 692,
"cds_start": 2002,
"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": "NM_001195800.2"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Val668Ile",
"transcript": "ENST00000455727.6",
"protein_id": "ENSP00000397829.2",
"transcript_support_level": 2,
"aa_start": 668,
"aa_end": null,
"aa_length": 692,
"cds_start": 2002,
"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": "ENST00000455727.6"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2002G>A",
"hgvs_p": "p.Val668Ile",
"transcript": "ENST00000913406.1",
"protein_id": "ENSP00000583465.1",
"transcript_support_level": null,
"aa_start": 668,
"aa_end": null,
"aa_length": 692,
"cds_start": 2002,
"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": "ENST00000913406.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1972G>A",
"hgvs_p": "p.Val658Ile",
"transcript": "NM_001195803.2",
"protein_id": "NP_001182732.1",
"transcript_support_level": null,
"aa_start": 658,
"aa_end": null,
"aa_length": 682,
"cds_start": 1972,
"cds_end": null,
"cds_length": 2049,
"cdna_start": null,
"cdna_end": 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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"biotype": "pseudogene",
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],
"gene_symbol": "LDLR",
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"dbsnp": "rs879255220",
"frequency_reference_population": 0.0000068406566,
"hom_count_reference_population": 0,
"allele_count_reference_population": 10,
"gnomad_exomes_af": 0.00000684066,
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"gnomad_exomes_ac": 10,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.11796554923057556,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.486,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0739,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.07,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 0.805,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 1,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM1,PP2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 1,
"benign_score": 2,
"pathogenic_score": 3,
"criteria": [
"PM1",
"PP2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000527.5",
"gene_symbol": "LDLR",
"hgnc_id": 6547,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR,SD",
"hgvs_c": "c.2506G>A",
"hgvs_p": "p.Val836Ile"
}
],
"clinvar_disease": " 1, familial,Cardiovascular phenotype,Familial hypercholesterolemia,Hypercholesterolemia,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:6 LB:1",
"phenotype_combined": "Hypercholesterolemia, familial, 1|not specified|not provided|Cardiovascular phenotype|Familial hypercholesterolemia",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}