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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: 19-11123341-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=19&pos=11123341&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "19",
"pos": 11123341,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_000527.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2308C>G",
"hgvs_p": "p.Gln770Glu",
"transcript": "NM_000527.5",
"protein_id": "NP_000518.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 860,
"cds_start": 2308,
"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": "Q",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2308C>G",
"hgvs_p": "p.Gln770Glu",
"transcript": "ENST00000558518.6",
"protein_id": "ENSP00000454071.1",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 860,
"cds_start": 2308,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2566C>G",
"hgvs_p": "p.Gln856Glu",
"transcript": "ENST00000252444.10",
"protein_id": "ENSP00000252444.6",
"transcript_support_level": 1,
"aa_start": 856,
"aa_end": null,
"aa_length": 946,
"cds_start": 2566,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2308C>G",
"hgvs_p": "p.Gln770Glu",
"transcript": "ENST00000558013.5",
"protein_id": "ENSP00000453346.1",
"transcript_support_level": 1,
"aa_start": 770,
"aa_end": null,
"aa_length": 858,
"cds_start": 2308,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2308C>G",
"hgvs_p": "p.Gln770Glu",
"transcript": "ENST00000557933.5",
"protein_id": "ENSP00000453557.1",
"transcript_support_level": 5,
"aa_start": 770,
"aa_end": null,
"aa_length": 948,
"cds_start": 2308,
"cds_end": null,
"cds_length": 2847,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000557933.5"
},
{
"aa_ref": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2305C>G",
"hgvs_p": "p.Gln769Glu",
"transcript": "ENST00000913405.1",
"protein_id": "ENSP00000583464.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 859,
"cds_start": 2305,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2308C>G",
"hgvs_p": "p.Gln770Glu",
"transcript": "NM_001195798.2",
"protein_id": "NP_001182727.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 858,
"cds_start": 2308,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2308C>G",
"hgvs_p": "p.Gln770Glu",
"transcript": "ENST00000856646.1",
"protein_id": "ENSP00000526705.1",
"transcript_support_level": null,
"aa_start": 770,
"aa_end": null,
"aa_length": 834,
"cds_start": 2308,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2188C>G",
"hgvs_p": "p.Gln730Glu",
"transcript": "ENST00000560467.2",
"protein_id": "ENSP00000453513.2",
"transcript_support_level": 3,
"aa_start": 730,
"aa_end": null,
"aa_length": 820,
"cds_start": 2188,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2185C>G",
"hgvs_p": "p.Gln729Glu",
"transcript": "NM_001195799.2",
"protein_id": "NP_001182728.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 819,
"cds_start": 2185,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2185C>G",
"hgvs_p": "p.Gln729Glu",
"transcript": "ENST00000535915.5",
"protein_id": "ENSP00000440520.1",
"transcript_support_level": 2,
"aa_start": 729,
"aa_end": null,
"aa_length": 819,
"cds_start": 2185,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2155C>G",
"hgvs_p": "p.Gln719Glu",
"transcript": "ENST00000856647.1",
"protein_id": "ENSP00000526706.1",
"transcript_support_level": null,
"aa_start": 719,
"aa_end": null,
"aa_length": 809,
"cds_start": 2155,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.2185C>G",
"hgvs_p": "p.Gln729Glu",
"transcript": "ENST00000942040.1",
"protein_id": "ENSP00000612099.1",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 793,
"cds_start": 2185,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1927C>G",
"hgvs_p": "p.Gln643Glu",
"transcript": "ENST00000856645.1",
"protein_id": "ENSP00000526704.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 733,
"cds_start": 1927,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1927C>G",
"hgvs_p": "p.Gln643Glu",
"transcript": "ENST00000913412.1",
"protein_id": "ENSP00000583471.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 731,
"cds_start": 1927,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1876C>G",
"hgvs_p": "p.Gln626Glu",
"transcript": "ENST00000913410.1",
"protein_id": "ENSP00000583469.1",
"transcript_support_level": null,
"aa_start": 626,
"aa_end": null,
"aa_length": 716,
"cds_start": 1876,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1873C>G",
"hgvs_p": "p.Gln625Glu",
"transcript": "ENST00000913407.1",
"protein_id": "ENSP00000583466.1",
"transcript_support_level": null,
"aa_start": 625,
"aa_end": null,
"aa_length": 715,
"cds_start": 1873,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1927C>G",
"hgvs_p": "p.Gln643Glu",
"transcript": "ENST00000913408.1",
"protein_id": "ENSP00000583467.1",
"transcript_support_level": null,
"aa_start": 643,
"aa_end": null,
"aa_length": 707,
"cds_start": 1927,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Gln602Glu",
"transcript": "NM_001195800.2",
"protein_id": "NP_001182729.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 692,
"cds_start": 1804,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Gln602Glu",
"transcript": "ENST00000455727.6",
"protein_id": "ENSP00000397829.2",
"transcript_support_level": 2,
"aa_start": 602,
"aa_end": null,
"aa_length": 692,
"cds_start": 1804,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1804C>G",
"hgvs_p": "p.Gln602Glu",
"transcript": "ENST00000913406.1",
"protein_id": "ENSP00000583465.1",
"transcript_support_level": null,
"aa_start": 602,
"aa_end": null,
"aa_length": 692,
"cds_start": 1804,
"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": "Q",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LDLR",
"gene_hgnc_id": 6547,
"hgvs_c": "c.1774C>G",
"hgvs_p": "p.Gln592Glu",
"transcript": "NM_001195803.2",
"protein_id": "NP_001182732.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 682,
"cds_start": 1774,
"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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"dbsnp": "rs763625913",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_genomes_af": null,
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"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
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"computational_score_selected": 0.27375540137290955,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.387,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.12,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.532,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2,BP4",
"acmg_by_gene": [
{
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"pathogenic_score": 3,
"criteria": [
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"PP2",
"BP4"
],
"verdict": "Uncertain_significance",
"transcript": "NM_000527.5",
"gene_symbol": "LDLR",
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"effects": [
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],
"inheritance_mode": "AD,AR,SD",
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],
"clinvar_disease": "Familial hypercholesterolemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Familial hypercholesterolemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}