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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: 1-55052783-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=55052783&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 55052783,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000302118.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Thr264Ser",
"transcript": "NM_174936.4",
"protein_id": "NP_777596.2",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 692,
"cds_start": 791,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": "ENST00000302118.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Thr264Ser",
"transcript": "ENST00000302118.5",
"protein_id": "ENSP00000303208.5",
"transcript_support_level": 1,
"aa_start": 264,
"aa_end": null,
"aa_length": 692,
"cds_start": 791,
"cds_end": null,
"cds_length": 2079,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3637,
"mane_select": "NM_174936.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.1148C>G",
"hgvs_p": "p.Thr383Ser",
"transcript": "ENST00000710286.1",
"protein_id": "ENSP00000518176.1",
"transcript_support_level": null,
"aa_start": 383,
"aa_end": null,
"aa_length": 811,
"cds_start": 1148,
"cds_end": null,
"cds_length": 2436,
"cdna_start": 1173,
"cdna_end": null,
"cdna_length": 3729,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Thr305Ser",
"transcript": "NM_001407240.1",
"protein_id": "NP_001394169.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 733,
"cds_start": 914,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1204,
"cdna_end": null,
"cdna_length": 3760,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.914C>G",
"hgvs_p": "p.Thr305Ser",
"transcript": "ENST00000713786.1",
"protein_id": "ENSP00000519088.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 733,
"cds_start": 914,
"cds_end": null,
"cds_length": 2202,
"cdna_start": 1284,
"cdna_end": null,
"cdna_length": 3840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Thr264Ser",
"transcript": "NM_001407241.1",
"protein_id": "NP_001394170.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 706,
"cds_start": 791,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3679,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.794C>G",
"hgvs_p": "p.Thr265Ser",
"transcript": "NM_001407242.1",
"protein_id": "NP_001394171.1",
"transcript_support_level": null,
"aa_start": 265,
"aa_end": null,
"aa_length": 693,
"cds_start": 794,
"cds_end": null,
"cds_length": 2082,
"cdna_start": 1084,
"cdna_end": null,
"cdna_length": 3640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.734C>G",
"hgvs_p": "p.Thr245Ser",
"transcript": "NM_001407243.1",
"protein_id": "NP_001394172.1",
"transcript_support_level": null,
"aa_start": 245,
"aa_end": null,
"aa_length": 673,
"cds_start": 734,
"cds_end": null,
"cds_length": 2022,
"cdna_start": 1024,
"cdna_end": null,
"cdna_length": 3580,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Thr264Ser",
"transcript": "NM_001407244.1",
"protein_id": "NP_001394173.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 634,
"cds_start": 791,
"cds_end": null,
"cds_length": 1905,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.599C>G",
"hgvs_p": "p.Thr200Ser",
"transcript": "NM_001407245.1",
"protein_id": "NP_001394174.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 628,
"cds_start": 599,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 889,
"cdna_end": null,
"cdna_length": 3445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Thr139Ser",
"transcript": "NM_001407246.1",
"protein_id": "NP_001394175.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 567,
"cds_start": 416,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 1440,
"cdna_end": null,
"cdna_length": 3996,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.416C>G",
"hgvs_p": "p.Thr139Ser",
"transcript": "ENST00000673903.1",
"protein_id": "ENSP00000501257.1",
"transcript_support_level": null,
"aa_start": 139,
"aa_end": null,
"aa_length": 567,
"cds_start": 416,
"cds_end": null,
"cds_length": 1704,
"cdna_start": 693,
"cdna_end": null,
"cdna_length": 3194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "c.791C>G",
"hgvs_p": "p.Thr264Ser",
"transcript": "NM_001407247.1",
"protein_id": "NP_001394176.1",
"transcript_support_level": null,
"aa_start": 264,
"aa_end": null,
"aa_length": 525,
"cds_start": 791,
"cds_end": null,
"cds_length": 1578,
"cdna_start": 1081,
"cdna_end": null,
"cdna_length": 3136,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.1612C>G",
"hgvs_p": null,
"transcript": "ENST00000490692.1",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.*287C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3849,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.791C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": 3833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.*235C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.791C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3904,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.1124C>G",
"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": -4,
"cds_end": null,
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"cdna_start": null,
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"cdna_length": 3628,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.765C>G",
"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": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3431,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.1081C>G",
"hgvs_p": null,
"transcript": "NR_176319.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3906,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.1204C>G",
"hgvs_p": null,
"transcript": "NR_176320.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3870,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "PCSK9",
"gene_hgnc_id": 20001,
"hgvs_c": "n.1081C>G",
"hgvs_p": null,
"transcript": "NR_176321.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Benign",
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"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.39,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_by_gene": [
{
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"BP4_Moderate"
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"verdict": "Uncertain_significance",
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"effects": [
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"inheritance_mode": "AD,AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}