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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: 1-55063453-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=55063453&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 55063453,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001407240.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Val650Ile",
"transcript": "NM_174936.4",
"protein_id": "NP_777596.2",
"transcript_support_level": null,
"aa_start": 650,
"aa_end": null,
"aa_length": 692,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000302118.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_174936.4"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1948G>A",
"hgvs_p": "p.Val650Ile",
"transcript": "ENST00000302118.5",
"protein_id": "ENSP00000303208.5",
"transcript_support_level": 1,
"aa_start": 650,
"aa_end": null,
"aa_length": 692,
"cds_start": 1948,
"cds_end": null,
"cds_length": 2079,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_174936.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000302118.5"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.2305G>A",
"hgvs_p": "p.Val769Ile",
"transcript": "ENST00000710286.1",
"protein_id": "ENSP00000518176.1",
"transcript_support_level": null,
"aa_start": 769,
"aa_end": null,
"aa_length": 811,
"cds_start": 2305,
"cds_end": null,
"cds_length": 2436,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000710286.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Val691Ile",
"transcript": "NM_001407240.1",
"protein_id": "NP_001394169.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 733,
"cds_start": 2071,
"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": "NM_001407240.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Val691Ile",
"transcript": "ENST00000713786.1",
"protein_id": "ENSP00000519088.1",
"transcript_support_level": null,
"aa_start": 691,
"aa_end": null,
"aa_length": 733,
"cds_start": 2071,
"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": "ENST00000713786.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1990G>A",
"hgvs_p": "p.Val664Ile",
"transcript": "NM_001407241.1",
"protein_id": "NP_001394170.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 706,
"cds_start": 1990,
"cds_end": null,
"cds_length": 2121,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407241.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Val651Ile",
"transcript": "NM_001407242.1",
"protein_id": "NP_001394171.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 693,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407242.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1951G>A",
"hgvs_p": "p.Val651Ile",
"transcript": "ENST00000923576.1",
"protein_id": "ENSP00000593635.1",
"transcript_support_level": null,
"aa_start": 651,
"aa_end": null,
"aa_length": 693,
"cds_start": 1951,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000923576.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1891G>A",
"hgvs_p": "p.Val631Ile",
"transcript": "NM_001407243.1",
"protein_id": "NP_001394172.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 673,
"cds_start": 1891,
"cds_end": null,
"cds_length": 2022,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407243.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1774G>A",
"hgvs_p": "p.Val592Ile",
"transcript": "NM_001407244.1",
"protein_id": "NP_001394173.1",
"transcript_support_level": null,
"aa_start": 592,
"aa_end": null,
"aa_length": 634,
"cds_start": 1774,
"cds_end": null,
"cds_length": 1905,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407244.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1756G>A",
"hgvs_p": "p.Val586Ile",
"transcript": "NM_001407245.1",
"protein_id": "NP_001394174.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 628,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407245.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1756G>A",
"hgvs_p": "p.Val586Ile",
"transcript": "ENST00000854983.1",
"protein_id": "ENSP00000525042.1",
"transcript_support_level": null,
"aa_start": 586,
"aa_end": null,
"aa_length": 628,
"cds_start": 1756,
"cds_end": null,
"cds_length": 1887,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000854983.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "NM_001407246.1",
"protein_id": "NP_001394175.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 567,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407246.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1573G>A",
"hgvs_p": "p.Val525Ile",
"transcript": "ENST00000673903.1",
"protein_id": "ENSP00000501257.1",
"transcript_support_level": null,
"aa_start": 525,
"aa_end": null,
"aa_length": 567,
"cds_start": 1573,
"cds_end": null,
"cds_length": 1704,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673903.1"
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1447G>A",
"hgvs_p": "p.Val483Ile",
"transcript": "NM_001407247.1",
"protein_id": "NP_001394176.1",
"transcript_support_level": null,
"aa_start": 483,
"aa_end": null,
"aa_length": 525,
"cds_start": 1447,
"cds_end": null,
"cds_length": 1578,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001407247.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.2494G>A",
"hgvs_p": null,
"transcript": "ENST00000490692.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000490692.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.*1444G>A",
"hgvs_p": null,
"transcript": "ENST00000673726.2",
"protein_id": "ENSP00000501004.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673726.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.*288G>A",
"hgvs_p": null,
"transcript": "ENST00000673913.2",
"protein_id": "ENSP00000501161.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000673913.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.*1392G>A",
"hgvs_p": null,
"transcript": "ENST00000713785.1",
"protein_id": "ENSP00000519087.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000713785.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.*1113G>A",
"hgvs_p": null,
"transcript": "ENST00000713787.1",
"protein_id": "ENSP00000519089.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000713787.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.2229G>A",
"hgvs_p": null,
"transcript": "NR_110451.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_110451.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.2032G>A",
"hgvs_p": null,
"transcript": "NR_176318.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_176318.1"
},
{
"aa_ref": null,
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],
"gene_symbol": "PCSK9",
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"dbsnp": "rs767706622",
"frequency_reference_population": 0.000013629836,
"hom_count_reference_population": 0,
"allele_count_reference_population": 22,
"gnomad_exomes_af": 0.0000123137,
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"gnomad_exomes_ac": 18,
"gnomad_genomes_ac": 4,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06738629937171936,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.074,
"revel_prediction": "Benign",
"alphamissense_score": 0.085,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.56,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.04,
"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": -4,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Strong",
"acmg_by_gene": [
{
"score": -4,
"benign_score": 4,
"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_001407240.1",
"gene_symbol": "PCSK9",
"hgnc_id": 20001,
"effects": [
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],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.2071G>A",
"hgvs_p": "p.Val691Ile"
}
],
"clinvar_disease": " 1, 3, autosomal dominant, familial,Familial hypercholesterolemia,Hypercholesterolemia",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Hypercholesterolemia, familial, 1|Hypercholesterolemia, autosomal dominant, 3|Familial hypercholesterolemia",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}