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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: 15-63609181-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=63609181&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 63609181,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14486G>A",
"hgvs_p": "p.Arg4829His",
"transcript": "NM_003922.4",
"protein_id": "NP_003913.3",
"transcript_support_level": null,
"aa_start": 4829,
"aa_end": null,
"aa_length": 4861,
"cds_start": 14486,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 14634,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14486G>A",
"hgvs_p": "p.Arg4829His",
"transcript": "ENST00000443617.7",
"protein_id": "ENSP00000390158.2",
"transcript_support_level": 1,
"aa_start": 4829,
"aa_end": null,
"aa_length": 4861,
"cds_start": 14486,
"cds_end": null,
"cds_length": 14586,
"cdna_start": 14634,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14630G>A",
"hgvs_p": "p.Arg4877His",
"transcript": "XM_047433210.1",
"protein_id": "XP_047289166.1",
"transcript_support_level": null,
"aa_start": 4877,
"aa_end": null,
"aa_length": 4909,
"cds_start": 14630,
"cds_end": null,
"cds_length": 14730,
"cdna_start": 14783,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14627G>A",
"hgvs_p": "p.Arg4876His",
"transcript": "XM_047433211.1",
"protein_id": "XP_047289167.1",
"transcript_support_level": null,
"aa_start": 4876,
"aa_end": null,
"aa_length": 4908,
"cds_start": 14627,
"cds_end": null,
"cds_length": 14727,
"cdna_start": 14780,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14609G>A",
"hgvs_p": "p.Arg4870His",
"transcript": "XM_047433213.1",
"protein_id": "XP_047289169.1",
"transcript_support_level": null,
"aa_start": 4870,
"aa_end": null,
"aa_length": 4902,
"cds_start": 14609,
"cds_end": null,
"cds_length": 14709,
"cdna_start": 14762,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14606G>A",
"hgvs_p": "p.Arg4869His",
"transcript": "XM_047433214.1",
"protein_id": "XP_047289170.1",
"transcript_support_level": null,
"aa_start": 4869,
"aa_end": null,
"aa_length": 4901,
"cds_start": 14606,
"cds_end": null,
"cds_length": 14706,
"cdna_start": 14759,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14606G>A",
"hgvs_p": "p.Arg4869His",
"transcript": "XM_047433215.1",
"protein_id": "XP_047289171.1",
"transcript_support_level": null,
"aa_start": 4869,
"aa_end": null,
"aa_length": 4901,
"cds_start": 14606,
"cds_end": null,
"cds_length": 14706,
"cdna_start": 14759,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14585G>A",
"hgvs_p": "p.Arg4862His",
"transcript": "XM_047433216.1",
"protein_id": "XP_047289172.1",
"transcript_support_level": null,
"aa_start": 4862,
"aa_end": null,
"aa_length": 4894,
"cds_start": 14585,
"cds_end": null,
"cds_length": 14685,
"cdna_start": 14738,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14579G>A",
"hgvs_p": "p.Arg4860His",
"transcript": "XM_017022702.2",
"protein_id": "XP_016878191.1",
"transcript_support_level": null,
"aa_start": 4860,
"aa_end": null,
"aa_length": 4892,
"cds_start": 14579,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 14727,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14579G>A",
"hgvs_p": "p.Arg4860His",
"transcript": "XM_047433217.1",
"protein_id": "XP_047289173.1",
"transcript_support_level": null,
"aa_start": 4860,
"aa_end": null,
"aa_length": 4892,
"cds_start": 14579,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 14732,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14579G>A",
"hgvs_p": "p.Arg4860His",
"transcript": "XM_047433218.1",
"protein_id": "XP_047289174.1",
"transcript_support_level": null,
"aa_start": 4860,
"aa_end": null,
"aa_length": 4892,
"cds_start": 14579,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 14732,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14579G>A",
"hgvs_p": "p.Arg4860His",
"transcript": "XM_047433219.1",
"protein_id": "XP_047289175.1",
"transcript_support_level": null,
"aa_start": 4860,
"aa_end": null,
"aa_length": 4892,
"cds_start": 14579,
"cds_end": null,
"cds_length": 14679,
"cdna_start": 15052,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14576G>A",
"hgvs_p": "p.Arg4859His",
"transcript": "XM_047433220.1",
"protein_id": "XP_047289176.1",
"transcript_support_level": null,
"aa_start": 4859,
"aa_end": null,
"aa_length": 4891,
"cds_start": 14576,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 14729,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14576G>A",
"hgvs_p": "p.Arg4859His",
"transcript": "XM_047433221.1",
"protein_id": "XP_047289177.1",
"transcript_support_level": null,
"aa_start": 4859,
"aa_end": null,
"aa_length": 4891,
"cds_start": 14576,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 14729,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14576G>A",
"hgvs_p": "p.Arg4859His",
"transcript": "XM_047433222.1",
"protein_id": "XP_047289178.1",
"transcript_support_level": null,
"aa_start": 4859,
"aa_end": null,
"aa_length": 4891,
"cds_start": 14576,
"cds_end": null,
"cds_length": 14676,
"cdna_start": 14729,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14558G>A",
"hgvs_p": "p.Arg4853His",
"transcript": "XM_047433223.1",
"protein_id": "XP_047289179.1",
"transcript_support_level": null,
"aa_start": 4853,
"aa_end": null,
"aa_length": 4885,
"cds_start": 14558,
"cds_end": null,
"cds_length": 14658,
"cdna_start": 14711,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14555G>A",
"hgvs_p": "p.Arg4852His",
"transcript": "XM_047433224.1",
"protein_id": "XP_047289180.1",
"transcript_support_level": null,
"aa_start": 4852,
"aa_end": null,
"aa_length": 4884,
"cds_start": 14555,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 14708,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14555G>A",
"hgvs_p": "p.Arg4852His",
"transcript": "XM_047433225.1",
"protein_id": "XP_047289181.1",
"transcript_support_level": null,
"aa_start": 4852,
"aa_end": null,
"aa_length": 4884,
"cds_start": 14555,
"cds_end": null,
"cds_length": 14655,
"cdna_start": 14708,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14555G>A",
"hgvs_p": "p.Arg4852His",
"transcript": "XM_047433226.1",
"protein_id": "XP_047289182.1",
"transcript_support_level": null,
"aa_start": 4852,
"aa_end": null,
"aa_length": 4884,
"cds_start": 14555,
"cds_end": null,
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"cdna_start": 14708,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14555G>A",
"hgvs_p": "p.Arg4852His",
"transcript": "XM_047433227.1",
"protein_id": "XP_047289183.1",
"transcript_support_level": null,
"aa_start": 4852,
"aa_end": null,
"aa_length": 4884,
"cds_start": 14555,
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"cds_length": 14655,
"cdna_start": 14703,
"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": 78,
"exon_rank_end": null,
"exon_count": 78,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14552G>A",
"hgvs_p": "p.Arg4851His",
"transcript": "XM_017022705.2",
"protein_id": "XP_016878194.1",
"transcript_support_level": null,
"aa_start": 4851,
"aa_end": null,
"aa_length": 4883,
"cds_start": 14552,
"cds_end": null,
"cds_length": 14652,
"cdna_start": 14700,
"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": 79,
"exon_rank_end": null,
"exon_count": 79,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"hgvs_c": "c.14552G>A",
"hgvs_p": "p.Arg4851His",
"transcript": "XM_047433228.1",
"protein_id": "XP_047289184.1",
"transcript_support_level": null,
"aa_start": 4851,
"aa_end": null,
"aa_length": 4883,
"cds_start": 14552,
"cds_end": null,
"cds_length": 14652,
"cdna_start": 14705,
"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": 78,
"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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}
],
"gene_symbol": "HERC1",
"gene_hgnc_id": 4867,
"dbsnp": "rs374249242",
"frequency_reference_population": 0.000014252818,
"hom_count_reference_population": 0,
"allele_count_reference_population": 23,
"gnomad_exomes_af": 0.0000143699,
"gnomad_genomes_af": 0.0000131292,
"gnomad_exomes_ac": 21,
"gnomad_genomes_ac": 2,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7870989441871643,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.626,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.8217,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.27,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.905,
"phylop100way_prediction": "Pathogenic",
"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": "Uncertain_significance",
"acmg_criteria": "PM2,PP3,PP5",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3",
"PP5"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000443617.7",
"gene_symbol": "HERC1",
"hgnc_id": 4867,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.14486G>A",
"hgvs_p": "p.Arg4829His"
}
],
"clinvar_disease": " and psychomotor retardation, dysmorphic facies,Inborn genetic diseases,Macrocephaly,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "LP:1 US:3",
"phenotype_combined": "Inborn genetic diseases|not provided|Macrocephaly, dysmorphic facies, and psychomotor retardation",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}