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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: 15-63645525-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63645525&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63645525,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000443617.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11036G>A",
"hgvs_p": "p.Arg3679His",
"transcript": "NM_003922.4",
"protein_id": "NP_003913.3",
"transcript_support_level": null,
"aa_start": 3679,
"aa_end": null,
"aa_length": 4861,
"cds_start": 11036,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 11184,
"cdna_end": null,
"cdna_length": 15197,
"mane_select": "ENST00000443617.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11036G>A",
"hgvs_p": "p.Arg3679His",
"transcript": "ENST00000443617.7",
"protein_id": "ENSP00000390158.2",
"transcript_support_level": 1,
"aa_start": 3679,
"aa_end": null,
"aa_length": 4861,
"cds_start": 11036,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 11184,
"cdna_end": null,
"cdna_length": 15197,
"mane_select": "NM_003922.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11180G>A",
"hgvs_p": "p.Arg3727His",
"transcript": "XM_047433210.1",
"protein_id": "XP_047289166.1",
"transcript_support_level": null,
"aa_start": 3727,
"aa_end": null,
"aa_length": 4909,
"cds_start": 11180,
"cds_end": null,
"cds_length": 14730,
"cdna_start": 11333,
"cdna_end": null,
"cdna_length": 15346,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11177G>A",
"hgvs_p": "p.Arg3726His",
"transcript": "XM_047433211.1",
"protein_id": "XP_047289167.1",
"transcript_support_level": null,
"aa_start": 3726,
"aa_end": null,
"aa_length": 4908,
"cds_start": 11177,
"cds_end": null,
"cds_length": 14727,
"cdna_start": 11330,
"cdna_end": null,
"cdna_length": 15343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11159G>A",
"hgvs_p": "p.Arg3720His",
"transcript": "XM_047433213.1",
"protein_id": "XP_047289169.1",
"transcript_support_level": null,
"aa_start": 3720,
"aa_end": null,
"aa_length": 4902,
"cds_start": 11159,
"cds_end": null,
"cds_length": 14709,
"cdna_start": 11312,
"cdna_end": null,
"cdna_length": 15325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11156G>A",
"hgvs_p": "p.Arg3719His",
"transcript": "XM_047433214.1",
"protein_id": "XP_047289170.1",
"transcript_support_level": null,
"aa_start": 3719,
"aa_end": null,
"aa_length": 4901,
"cds_start": 11156,
"cds_end": null,
"cds_length": 14706,
"cdna_start": 11309,
"cdna_end": null,
"cdna_length": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11156G>A",
"hgvs_p": "p.Arg3719His",
"transcript": "XM_047433215.1",
"protein_id": "XP_047289171.1",
"transcript_support_level": null,
"aa_start": 3719,
"aa_end": null,
"aa_length": 4901,
"cds_start": 11156,
"cds_end": null,
"cds_length": 14706,
"cdna_start": 11309,
"cdna_end": null,
"cdna_length": 15322,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11135G>A",
"hgvs_p": "p.Arg3712His",
"transcript": "XM_047433216.1",
"protein_id": "XP_047289172.1",
"transcript_support_level": null,
"aa_start": 3712,
"aa_end": null,
"aa_length": 4894,
"cds_start": 11135,
"cds_end": null,
"cds_length": 14685,
"cdna_start": 11288,
"cdna_end": null,
"cdna_length": 15301,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11129G>A",
"hgvs_p": "p.Arg3710His",
"transcript": "XM_017022702.2",
"protein_id": "XP_016878191.1",
"transcript_support_level": null,
"aa_start": 3710,
"aa_end": null,
"aa_length": 4892,
"cds_start": 11129,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 11277,
"cdna_end": null,
"cdna_length": 15290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11129G>A",
"hgvs_p": "p.Arg3710His",
"transcript": "XM_047433217.1",
"protein_id": "XP_047289173.1",
"transcript_support_level": null,
"aa_start": 3710,
"aa_end": null,
"aa_length": 4892,
"cds_start": 11129,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 11282,
"cdna_end": null,
"cdna_length": 15295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11129G>A",
"hgvs_p": "p.Arg3710His",
"transcript": "XM_047433218.1",
"protein_id": "XP_047289174.1",
"transcript_support_level": null,
"aa_start": 3710,
"aa_end": null,
"aa_length": 4892,
"cds_start": 11129,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 11282,
"cdna_end": null,
"cdna_length": 15295,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11129G>A",
"hgvs_p": "p.Arg3710His",
"transcript": "XM_047433219.1",
"protein_id": "XP_047289175.1",
"transcript_support_level": null,
"aa_start": 3710,
"aa_end": null,
"aa_length": 4892,
"cds_start": 11129,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 11602,
"cdna_end": null,
"cdna_length": 15615,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11126G>A",
"hgvs_p": "p.Arg3709His",
"transcript": "XM_047433220.1",
"protein_id": "XP_047289176.1",
"transcript_support_level": null,
"aa_start": 3709,
"aa_end": null,
"aa_length": 4891,
"cds_start": 11126,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 11279,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11126G>A",
"hgvs_p": "p.Arg3709His",
"transcript": "XM_047433221.1",
"protein_id": "XP_047289177.1",
"transcript_support_level": null,
"aa_start": 3709,
"aa_end": null,
"aa_length": 4891,
"cds_start": 11126,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 11279,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11126G>A",
"hgvs_p": "p.Arg3709His",
"transcript": "XM_047433222.1",
"protein_id": "XP_047289178.1",
"transcript_support_level": null,
"aa_start": 3709,
"aa_end": null,
"aa_length": 4891,
"cds_start": 11126,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 11279,
"cdna_end": null,
"cdna_length": 15292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11108G>A",
"hgvs_p": "p.Arg3703His",
"transcript": "XM_047433223.1",
"protein_id": "XP_047289179.1",
"transcript_support_level": null,
"aa_start": 3703,
"aa_end": null,
"aa_length": 4885,
"cds_start": 11108,
"cds_end": null,
"cds_length": 14658,
"cdna_start": 11261,
"cdna_end": null,
"cdna_length": 15274,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11105G>A",
"hgvs_p": "p.Arg3702His",
"transcript": "XM_047433224.1",
"protein_id": "XP_047289180.1",
"transcript_support_level": null,
"aa_start": 3702,
"aa_end": null,
"aa_length": 4884,
"cds_start": 11105,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 11258,
"cdna_end": null,
"cdna_length": 15271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11105G>A",
"hgvs_p": "p.Arg3702His",
"transcript": "XM_047433225.1",
"protein_id": "XP_047289181.1",
"transcript_support_level": null,
"aa_start": 3702,
"aa_end": null,
"aa_length": 4884,
"cds_start": 11105,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 11258,
"cdna_end": null,
"cdna_length": 15271,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11105G>A",
"hgvs_p": "p.Arg3702His",
"transcript": "XM_047433226.1",
"protein_id": "XP_047289182.1",
"transcript_support_level": null,
"aa_start": 3702,
"aa_end": null,
"aa_length": 4884,
"cds_start": 11105,
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"cdna_start": 11258,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11105G>A",
"hgvs_p": "p.Arg3702His",
"transcript": "XM_047433227.1",
"protein_id": "XP_047289183.1",
"transcript_support_level": null,
"aa_start": 3702,
"aa_end": null,
"aa_length": 4884,
"cds_start": 11105,
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"cdna_start": 11253,
"cdna_end": null,
"cdna_length": 15266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11102G>A",
"hgvs_p": "p.Arg3701His",
"transcript": "XM_017022705.2",
"protein_id": "XP_016878194.1",
"transcript_support_level": null,
"aa_start": 3701,
"aa_end": null,
"aa_length": 4883,
"cds_start": 11102,
"cds_end": null,
"cds_length": 14652,
"cdna_start": 11250,
"cdna_end": null,
"cdna_length": 15263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 57,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.11102G>A",
"hgvs_p": "p.Arg3701His",
"transcript": "XM_047433228.1",
"protein_id": "XP_047289184.1",
"transcript_support_level": null,
"aa_start": 3701,
"aa_end": null,
"aa_length": 4883,
"cds_start": 11102,
"cds_end": null,
"cds_length": 14652,
"cdna_start": 11255,
"cdna_end": null,
"cdna_length": 15268,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 56,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": 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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}
],
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"dbsnp": "rs143508709",
"frequency_reference_population": 0.00096667156,
"hom_count_reference_population": 9,
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"gnomad_exomes_af": 0.000524167,
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"gnomad_exomes_ac": 765,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.00811159610748291,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.124,
"revel_prediction": "Benign",
"alphamissense_score": 0.0777,
"alphamissense_prediction": "Benign",
"bayesdelnoaf_score": -0.62,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.317,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"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": -20,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BS1,BS2",
"acmg_by_gene": [
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BS1",
"BS2"
],
"verdict": "Benign",
"transcript": "ENST00000443617.7",
"gene_symbol": "HERC1",
"hgnc_id": 4867,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.11036G>A",
"hgvs_p": "p.Arg3679His"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}