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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: 15-63623777-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63623777&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63623777,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000443617.7",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13559G>C",
"hgvs_p": "p.Gly4520Ala",
"transcript": "NM_003922.4",
"protein_id": "NP_003913.3",
"transcript_support_level": null,
"aa_start": 4520,
"aa_end": null,
"aa_length": 4861,
"cds_start": 13559,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 13707,
"cdna_end": null,
"cdna_length": 15197,
"mane_select": "ENST00000443617.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13559G>C",
"hgvs_p": "p.Gly4520Ala",
"transcript": "ENST00000443617.7",
"protein_id": "ENSP00000390158.2",
"transcript_support_level": 1,
"aa_start": 4520,
"aa_end": null,
"aa_length": 4861,
"cds_start": 13559,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 13707,
"cdna_end": null,
"cdna_length": 15197,
"mane_select": "NM_003922.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13703G>C",
"hgvs_p": "p.Gly4568Ala",
"transcript": "XM_047433210.1",
"protein_id": "XP_047289166.1",
"transcript_support_level": null,
"aa_start": 4568,
"aa_end": null,
"aa_length": 4909,
"cds_start": 13703,
"cds_end": null,
"cds_length": 14730,
"cdna_start": 13856,
"cdna_end": null,
"cdna_length": 15346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13700G>C",
"hgvs_p": "p.Gly4567Ala",
"transcript": "XM_047433211.1",
"protein_id": "XP_047289167.1",
"transcript_support_level": null,
"aa_start": 4567,
"aa_end": null,
"aa_length": 4908,
"cds_start": 13700,
"cds_end": null,
"cds_length": 14727,
"cdna_start": 13853,
"cdna_end": null,
"cdna_length": 15343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13682G>C",
"hgvs_p": "p.Gly4561Ala",
"transcript": "XM_047433213.1",
"protein_id": "XP_047289169.1",
"transcript_support_level": null,
"aa_start": 4561,
"aa_end": null,
"aa_length": 4902,
"cds_start": 13682,
"cds_end": null,
"cds_length": 14709,
"cdna_start": 13835,
"cdna_end": null,
"cdna_length": 15325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13679G>C",
"hgvs_p": "p.Gly4560Ala",
"transcript": "XM_047433214.1",
"protein_id": "XP_047289170.1",
"transcript_support_level": null,
"aa_start": 4560,
"aa_end": null,
"aa_length": 4901,
"cds_start": 13679,
"cds_end": null,
"cds_length": 14706,
"cdna_start": 13832,
"cdna_end": null,
"cdna_length": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13679G>C",
"hgvs_p": "p.Gly4560Ala",
"transcript": "XM_047433215.1",
"protein_id": "XP_047289171.1",
"transcript_support_level": null,
"aa_start": 4560,
"aa_end": null,
"aa_length": 4901,
"cds_start": 13679,
"cds_end": null,
"cds_length": 14706,
"cdna_start": 13832,
"cdna_end": null,
"cdna_length": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13658G>C",
"hgvs_p": "p.Gly4553Ala",
"transcript": "XM_047433216.1",
"protein_id": "XP_047289172.1",
"transcript_support_level": null,
"aa_start": 4553,
"aa_end": null,
"aa_length": 4894,
"cds_start": 13658,
"cds_end": null,
"cds_length": 14685,
"cdna_start": 13811,
"cdna_end": null,
"cdna_length": 15301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13652G>C",
"hgvs_p": "p.Gly4551Ala",
"transcript": "XM_017022702.2",
"protein_id": "XP_016878191.1",
"transcript_support_level": null,
"aa_start": 4551,
"aa_end": null,
"aa_length": 4892,
"cds_start": 13652,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 13800,
"cdna_end": null,
"cdna_length": 15290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13652G>C",
"hgvs_p": "p.Gly4551Ala",
"transcript": "XM_047433217.1",
"protein_id": "XP_047289173.1",
"transcript_support_level": null,
"aa_start": 4551,
"aa_end": null,
"aa_length": 4892,
"cds_start": 13652,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 13805,
"cdna_end": null,
"cdna_length": 15295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13652G>C",
"hgvs_p": "p.Gly4551Ala",
"transcript": "XM_047433218.1",
"protein_id": "XP_047289174.1",
"transcript_support_level": null,
"aa_start": 4551,
"aa_end": null,
"aa_length": 4892,
"cds_start": 13652,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 13805,
"cdna_end": null,
"cdna_length": 15295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13652G>C",
"hgvs_p": "p.Gly4551Ala",
"transcript": "XM_047433219.1",
"protein_id": "XP_047289175.1",
"transcript_support_level": null,
"aa_start": 4551,
"aa_end": null,
"aa_length": 4892,
"cds_start": 13652,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 14125,
"cdna_end": null,
"cdna_length": 15615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13649G>C",
"hgvs_p": "p.Gly4550Ala",
"transcript": "XM_047433220.1",
"protein_id": "XP_047289176.1",
"transcript_support_level": null,
"aa_start": 4550,
"aa_end": null,
"aa_length": 4891,
"cds_start": 13649,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 13802,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13649G>C",
"hgvs_p": "p.Gly4550Ala",
"transcript": "XM_047433221.1",
"protein_id": "XP_047289177.1",
"transcript_support_level": null,
"aa_start": 4550,
"aa_end": null,
"aa_length": 4891,
"cds_start": 13649,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 13802,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13649G>C",
"hgvs_p": "p.Gly4550Ala",
"transcript": "XM_047433222.1",
"protein_id": "XP_047289178.1",
"transcript_support_level": null,
"aa_start": 4550,
"aa_end": null,
"aa_length": 4891,
"cds_start": 13649,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 13802,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13631G>C",
"hgvs_p": "p.Gly4544Ala",
"transcript": "XM_047433223.1",
"protein_id": "XP_047289179.1",
"transcript_support_level": null,
"aa_start": 4544,
"aa_end": null,
"aa_length": 4885,
"cds_start": 13631,
"cds_end": null,
"cds_length": 14658,
"cdna_start": 13784,
"cdna_end": null,
"cdna_length": 15274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13628G>C",
"hgvs_p": "p.Gly4543Ala",
"transcript": "XM_047433224.1",
"protein_id": "XP_047289180.1",
"transcript_support_level": null,
"aa_start": 4543,
"aa_end": null,
"aa_length": 4884,
"cds_start": 13628,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 13781,
"cdna_end": null,
"cdna_length": 15271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13628G>C",
"hgvs_p": "p.Gly4543Ala",
"transcript": "XM_047433225.1",
"protein_id": "XP_047289181.1",
"transcript_support_level": null,
"aa_start": 4543,
"aa_end": null,
"aa_length": 4884,
"cds_start": 13628,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 13781,
"cdna_end": null,
"cdna_length": 15271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13628G>C",
"hgvs_p": "p.Gly4543Ala",
"transcript": "XM_047433226.1",
"protein_id": "XP_047289182.1",
"transcript_support_level": null,
"aa_start": 4543,
"aa_end": null,
"aa_length": 4884,
"cds_start": 13628,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 13781,
"cdna_end": null,
"cdna_length": 15271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13628G>C",
"hgvs_p": "p.Gly4543Ala",
"transcript": "XM_047433227.1",
"protein_id": "XP_047289183.1",
"transcript_support_level": null,
"aa_start": 4543,
"aa_end": null,
"aa_length": 4884,
"cds_start": 13628,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 13776,
"cdna_end": null,
"cdna_length": 15266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13625G>C",
"hgvs_p": "p.Gly4542Ala",
"transcript": "XM_017022705.2",
"protein_id": "XP_016878194.1",
"transcript_support_level": null,
"aa_start": 4542,
"aa_end": null,
"aa_length": 4883,
"cds_start": 13625,
"cds_end": null,
"cds_length": 14652,
"cdna_start": 13773,
"cdna_end": null,
"cdna_length": 15263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 74,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.13625G>C",
"hgvs_p": "p.Gly4542Ala",
"transcript": "XM_047433228.1",
"protein_id": "XP_047289184.1",
"transcript_support_level": null,
"aa_start": 4542,
"aa_end": null,
"aa_length": 4883,
"cds_start": 13625,
"cds_end": null,
"cds_length": 14652,
"cdna_start": 13778,
"cdna_end": null,
"cdna_length": 15268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 73,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
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}
],
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"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
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"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
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{
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"PM5"
],
"verdict": "Uncertain_significance",
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"effects": [
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],
"clinvar_disease": "Inborn genetic diseases",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}